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
ZNF385B	151126	broad.mit.edu	37	2	180311376	180311376	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:180311376C>T	ENST00000410066.1	-	7	1395	c.792G>A	c.(790-792)aaG>aaA	p.K264K	ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Silent_p.K162K|ZNF385B_ENST00000336917.5_Silent_p.K162K|ZNF385B_ENST00000409343.1_Silent_p.K188K	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	264						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CATTTGTGCTCTTGGAGGGAG	0.478000													35	86					0	0	0.006230	0	0
ZBED1	9189	broad.mit.edu	37	X	2408251	2408251	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chrX:2408251G>A	ENST00000381223.4	-	2	713	c.510C>T	c.(508-510)acC>acT	p.T170T	ZBED1_ENST00000381222.2_Silent_p.T170T|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Silent_p.T170T	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	170						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			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)				GGATGGCCTTGGTAGAGATGT	0.637000													24	166					0	0	0.008361	0	0
COLEC11	78989	broad.mit.edu	37	2	3691490	3691490	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:3691490C>T	ENST00000403096.3	+	6	1011	c.520C>T	c.(520-522)Cgt>Tgt	p.R174C	COLEC11_ENST00000418971.2_Missense_Mutation_p.R214C|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000404205.1_Missense_Mutation_p.R126C|COLEC11_ENST00000402794.1_Missense_Mutation_p.R150C|COLEC11_ENST00000382062.2_Missense_Mutation_p.R176C|COLEC11_ENST00000349077.4_Missense_Mutation_p.R200C|COLEC11_ENST00000236693.7_Missense_Mutation_p.R197C|COLEC11_ENST00000402922.1_Missense_Mutation_p.R150C	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	200	C-type lectin.					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)		CGGCCTGGCCCGTGTCTTCAT	0.667000													12	25					0	0	0.010729	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149350	142149350	+	RNA	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:142149350C>T	ENST00000390372.3	-	0	49																											TCACCTGCTACCAGGAGACAA	0.607000													37	46					0	0	0.013114	0	0
DSC3	1825	broad.mit.edu	37	18	28584252	28584252	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr18:28584252C>T	ENST00000434452.1	-	13	2123	c.1969G>A	c.(1969-1971)Ggc>Agc	p.G657S	DSC3_ENST00000360428.4_Missense_Mutation_p.G657S	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	657	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GCAGCTTGGCCGGCCCTGTCT	0.388000													8	57					0	0	0.006214	0	0
TECTA	7007	broad.mit.edu	37	11	121000698	121000698	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:121000698C>T	ENST00000392793.1	+	10	2990	c.2719C>T	c.(2719-2721)Cga>Tga	p.R907*	TECTA_ENST00000264037.2_Nonsense_Mutation_p.R907*			O75443	TECTA_HUMAN	tectorin alpha	907	VWFD 2.				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)		CAAGTTTTATCGAAGCCGCTC	0.562000													5	45					0	0	0.014758	0	0
ITPR3	3710	broad.mit.edu	37	6	33660659	33660659	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr6:33660659G>A	ENST00000374316.5	+	56	8673	c.7613G>A	c.(7612-7614)tGc>tAc	p.C2538Y	ITPR3_ENST00000605930.1_Missense_Mutation_p.C2538Y			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2538					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						AAGACGACATGCTTCATCTGT	0.547000													10	18					0	0	0.008291	0	0
COL3A1	1281	broad.mit.edu	37	2	189859820	189859820	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:189859820G>A	ENST00000304636.3	+	21	1674	c.1504G>A	c.(1504-1506)Gaa>Aaa	p.E502K	COL3A1_ENST00000317840.5_Missense_Mutation_p.E502K	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	502	Triple-helical region.				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)	CATCCCAGGAGAAAAGGTAGA	0.388000													18	59					0	0	0.010504	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105440679	105440679	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:105440679G>A	ENST00000258494.9	-	14	1895	c.1755C>T	c.(1753-1755)ctC>ctT	p.L585L	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	585	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TATCTTACCCGAGTGGCTCTT	0.413000													37	225					0	0	0.013114	0	0
BAI3	577	broad.mit.edu	37	6	69758149	69758149	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr6:69758149G>A	ENST00000370598.1	+	14	3001	c.2180G>A	c.(2179-2181)gGa>gAa	p.G727E		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	727					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)				GGACGGAAGGGAATGGTTGAC	0.363000													23	15					0	0	0.016522	0	0
NUP205	23165	broad.mit.edu	37	7	135311087	135311087	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:135311087C>G	ENST00000285968.6	+	33	4797	c.4771C>G	c.(4771-4773)Cgc>Ggc	p.R1591G		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1591					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						CTATGACATGCGCCCAGAAAC	0.423000													10	93					0	0	0.010729	0	0
CGN	57530	broad.mit.edu	37	1	151495982	151495982	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:151495982C>T	ENST00000271636.7	+	6	1346	c.1213C>T	c.(1213-1215)Cga>Tga	p.R405*		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	399	Glu-rich.					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)			AGAGTGCAGCCGACTGCAGGA	0.612000													24	23					0	0	0.016522	0	0
DNAH8	1769	broad.mit.edu	37	6	38840746	38840746	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr6:38840746C>T	ENST00000359357.3	+	49	6905	c.6651C>T	c.(6649-6651)tcC>tcT	p.S2217S	DNAH8_ENST00000449981.2_Silent_p.S2434S|DNAH8_ENST00000441566.1_Silent_p.S2181S					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						ACTTAAATTCCGTTTTGGATG	0.378000													18	25					0	0	0.012319	0	0
PRRG4	79056	broad.mit.edu	37	11	32860465	32860465	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:32860465C>T	ENST00000257836.3	+	4	558	c.305C>T	c.(304-306)aCc>aTc	p.T102I		NM_024081.5	NP_076986.1	Q9BZD6	TMG4_HUMAN	proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)	102						extracellular region|Golgi apparatus|integral to membrane	calcium ion binding			large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7	Breast(20;0.206)					AAAGGACCAACCACAAAATCA	0.299000													4	30					0	0	0.014758	0	0
IQCK	124152	broad.mit.edu	37	16	19838399	19838399	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:19838399C>T	ENST00000320394.6	+	9	1441	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	IQCK_ENST00000433597.2_Missense_Mutation_p.R160C|IQCK_ENST00000562762.1_3'UTR|IQCK_ENST00000564186.1_Missense_Mutation_p.R248C|IQCK_ENST00000541926.1_Missense_Mutation_p.219_219insF	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K	248										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						GAAGAAACTTCGCGAGGCCAA	0.438000													33	69					0	0	0.007835	0	0
CFTR	1080	broad.mit.edu	37	7	117246731	117246731	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:117246731G>A	ENST00000003084.6	+	18	3044	c.2912G>A	c.(2911-2913)gGg>gAg	p.G971E	CFTR_ENST00000454343.1_Missense_Mutation_p.G910E|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	971	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			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)	ATTATAGGTGGGATTCTTAAT	0.299000									Cystic Fibrosis				107	71					0	0	0.014410	0	0
TGM1	7051	broad.mit.edu	37	14	24731050	24731050	+	Missense_Mutation	SNP	G	G	A	rs138885883		TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr14:24731050G>A	ENST00000206765.6	-	3	482	c.359C>T	c.(358-360)tCg>tTg	p.S120L	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	120				Missing (in Ref. 5; M86360).	cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GTCCGAGCGCGAGCTCAGCAA	0.592000													32	30					0	0	0.005524	0	0
TAF15	8148	broad.mit.edu	37	17	34171094	34171094	+	Silent	SNP	T	T	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:34171094T>C	ENST00000588240.1	+	13	1135	c.1020T>C	c.(1018-1020)taT>taC	p.Y340Y	TAF15_ENST00000592237.1_Silent_p.Y249Y|TAF15_ENST00000311979.3_Silent_p.Y337Y	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	340	Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GTGGAGGATATAGAGGTCGTG	0.478000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								83	56					0	0	0.014410	0	0
HIF3A	64344	broad.mit.edu	37	19	46811540	46811540	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:46811540G>A	ENST00000339613.2	+	4	513	c.258G>A	c.(256-258)caG>caA	p.Q86Q	HIF3A_ENST00000300862.3_Silent_p.Q140Q|HIF3A_ENST00000472815.1_Silent_p.Q73Q|HIF3A_ENST00000600383.1_Silent_p.Q73Q|HIF3A_ENST00000377670.4_Silent_p.Q142Q|HIF3A_ENST00000420102.2_Silent_p.Q91Q|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000244303.6_Silent_p.Q73Q			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	142	PAS 1.				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)		AGGAGCTTCAGGACGCCCTGA	0.602000													56	72					0	0	0.014410	0	0
RAD54L2	23132	broad.mit.edu	37	3	51697054	51697054	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:51697054C>T	ENST00000409535.1	+	22	4147	c.4022C>T	c.(4021-4023)cCa>cTa	p.P1341L	RAD54L2_ENST00000296477.3_Missense_Mutation_p.P1035L	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1341						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CTGGTGTTTCCAGTGACTACT	0.592000													35	90					0	0	0.021022	0	0
TRHDE	29953	broad.mit.edu	37	12	72893278	72893278	+	Splice_Site	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:72893278G>A	ENST00000261180.4	+	6	1546	c.1449_splice	c.e6-1	p.E484_splice		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	484					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						TGTATTGCAGGAAAAGCAGAG	0.443000													5	48					0	0	0.001168	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818779	159818779	+	RNA	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:159818779C>T	ENST00000497452.1	-	0	517																											CGACTCCAGCCTCTTCGAAGA	0.493000													29	112					0	0	0.009535	0	0
BTD	686	broad.mit.edu	37	3	15643376	15643376	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:15643376C>T	ENST00000303498.5	+	1	128	c.19C>T	c.(19-21)Cag>Tag	p.Q7*	BTD_ENST00000449107.1_Intron|BTD_ENST00000437172.1_5'UTR	NM_000060.2	NP_000051.1	P43251	BTD_HUMAN	biotinidase	7					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						TGCGCATATTCAGGGCGGAAG	0.667000													15	37					0	0	0.006122	0	0
LINC00957	255031	broad.mit.edu	37	7	44080522	44080522	+	RNA	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:44080522C>T	ENST00000441052.1	+	0	1207																											AGGGCCTGATCCCAACCCGCT	0.627000													5	9					0	0	0.001168	0	0
VWA3B	200403	broad.mit.edu	37	2	98906990	98906990	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:98906990G>A	ENST00000477737.1	+	23	3266	c.3062G>A	c.(3061-3063)gGa>gAa	p.G1021E	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1021										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAATTGCAAGGAAATCCAACA	0.353000													5	12					0	0	0.014758	0	0
MED13	9969	broad.mit.edu	37	17	60088523	60088523	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:60088523A>G	ENST00000397786.2	-	9	1431	c.1355T>C	c.(1354-1356)aTa>aCa	p.I452T		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	452					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTTAGGAAGTATTTGTTGTTG	0.403000													9	53					0	0	0.013537	0	0
FAM66D	100132923	broad.mit.edu	37	8	11986710	11986710	+	RNA	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr8:11986710G>A	ENST00000434078.2	+	0	608					NR_027425.1																						GAAGTCCGCTGGATTTCAGGA	0.522000													50	249					0	0	0.014410	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101583064	101583064	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:101583064C>T	ENST00000310954.6	-	10	1989	c.1703G>A	c.(1702-1704)gGa>gAa	p.G568E		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	568					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TTCACATTTTCCAGCTTTAGC	0.328000													28	70					0	0	0.021022	0	0
DNAH5	1767	broad.mit.edu	37	5	13839571	13839571	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:13839571C>T	ENST00000265104.4	-	35	5880	c.5776G>A	c.(5776-5778)Gaa>Aaa	p.E1926K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1926	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)					TCAGAATCTTCGTTAAAGTAA	0.383000									Kartagener syndrome				5	48					0	0	0.014758	0	0
ABCA4	24	broad.mit.edu	37	1	94528173	94528173	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:94528173A>T	ENST00000370225.3	-	13	1983	c.1897T>A	c.(1897-1899)Tac>Aac	p.Y633N	ABCA4_ENST00000535735.1_Missense_Mutation_p.Y633N	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	633					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)		TGCTGGAGGTAGATTCCAACT	0.577000													11	43					0	0	0.013537	0	0
GALNT5	11227	broad.mit.edu	37	2	158153009	158153009	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:158153009G>A	ENST00000259056.4	+	5	2466	c.1981G>A	c.(1981-1983)Gaa>Aaa	p.E661K		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	661					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						CAGAATTAAAGAAACTGATAC	0.343000													11	29					0	0	0.013537	0	0
CFHR4	10877	broad.mit.edu	37	1	196874369	196874369	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:196874369G>A	ENST00000367416.2	+	3	522	c.385G>A	c.(385-387)Gga>Aga	p.G129R	CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000367418.1_Intron|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4									p.G129*(1)		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						AAATTCTTCAGGATCAATTAC	0.318000													48	62					0	0	0.014410	0	0
BMP3	651	broad.mit.edu	37	4	81966920	81966920	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr4:81966920C>T	ENST00000282701.2	+	2	665	c.345C>T	c.(343-345)atC>atT	p.I115I		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	115					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GACTGTATATCTTCAATCTGA	0.373000													5	26					0	0	0.001168	0	0
SYT4	6860	broad.mit.edu	37	18	40850435	40850435	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr18:40850435G>A	ENST00000255224.3	-	4	1517	c.1149C>T	c.(1147-1149)tcC>tcT	p.S383S	SYT4_ENST00000586678.1_5'UTR|SYT4_ENST00000590752.1_Silent_p.S365S	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	383	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CCTCATTTCGGGACCCCCTTT	0.458000													19	45					0	0	0.008871	0	0
DUXA	503835	broad.mit.edu	37	19	57670603	57670603	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:57670603C>T	ENST00000554048.2	-	3	223	c.224G>A	c.(223-225)aGa>aAa	p.R75K		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	75						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		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;0.0123)		AGCTTCTGGTCTTTTCTGGAA	0.423000													28	39					0	0	0.013726	0	0
CFAP54	144535	broad.mit.edu	37	12	97133780	97133780	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:97133780C>T	ENST00000524981.3	+	18	2365	c.2365C>T	c.(2365-2367)Ctt>Ttt	p.L789F				Q6ZTY8	CL063_HUMAN		763										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						GGATTCAAAACTTTTTGAAAA	0.313000													4	51					0	0	0.014758	0	0
MYF6	4618	broad.mit.edu	37	12	81102648	81102648	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:81102648C>T	ENST00000228641.3	+	3	860	c.638C>T	c.(637-639)tCg>tTg	p.S213L		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	213					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TCGTCAGCCTCGAGTAGCCTT	0.542000													40	77					0	0	0.009718	0	0
S100A9	6280	broad.mit.edu	37	1	153333202	153333202	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:153333202A>T	ENST00000368738.3	+	3	276	c.233A>T	c.(232-234)gAg>gTg	p.E78V		NM_002965.3	NP_002956.1	P06702	S10A9_HUMAN	S100 calcium binding protein A9	78	EF-hand 2.				cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)	4	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)			AGCTTCGAGGAGTTCATCATG	0.562000													26	58					0	0	0.008361	0	0
FBXO18	84893	broad.mit.edu	37	10	5969458	5969458	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr10:5969458G>A	ENST00000379999.5	+	20	3040	c.2936G>A	c.(2935-2937)cGt>cAt	p.R979H	FBXO18_ENST00000362091.4_Missense_Mutation_p.R928H|FBXO18_ENST00000397269.3_Missense_Mutation_p.R432H|FBXO18_ENST00000379994.1_Intron	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	928					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GCCAAGAAGCGTCTCATCATG	0.388000													35	69					0	0	0.014410	0	0
BSDC1	55108	broad.mit.edu	37	1	32849430	32849430	+	Splice_Site	SNP	C	C	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:32849430C>A	ENST00000341071.7	-	4	420		c.e4+1		BSDC1_ENST00000449308.1_Splice_Site|BSDC1_ENST00000419121.2_Intron|BSDC1_ENST00000526031.1_Intron|BSDC1_ENST00000413080.1_Splice_Site|BSDC1_ENST00000446293.2_Splice_Site|BSDC1_ENST00000455895.2_Splice_Site			Q9NW68	BSDC1_HUMAN	BSD domain containing 1								protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TCAGTGAATACCTTGGTGCCA	0.517000													15	45					3.52763e-06	3.63271e-06	0.004990	1	0
IL1RL1	9173	broad.mit.edu	37	2	102965595	102965595	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:102965595G>A	ENST00000233954.1	+	10	1445	c.1174G>A	c.(1174-1176)Gat>Aat	p.D392N		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	392	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						ATCCAGTACAGATGGGGCCAG	0.388000													33	57					0	0	0.008740	0	0
ILDR2	387597	broad.mit.edu	37	1	166904697	166904697	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:166904697C>T	ENST00000271417.3	-	6	776	c.721G>A	c.(721-723)Gca>Aca	p.A241T	ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000529071.1_Missense_Mutation_p.A222T|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000469934.2_Missense_Mutation_p.A241T|ILDR2_ENST00000525740.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	241						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GCCTTTGCTGCTTTCCCTGCT	0.577000													4	29					0	0	0.001168	0	0
ZNF180	7733	broad.mit.edu	37	19	44981860	44981860	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:44981860G>A	ENST00000221327.4	-	5	1119	c.838C>T	c.(838-840)Caa>Taa	p.Q280*	ZNF180_ENST00000391956.4_Nonsense_Mutation_p.Q255*|ZNF180_ENST00000592529.1_Nonsense_Mutation_p.Q253*	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CAAAAAGATTGAATACGGTCA	0.358000													18	61					0	0	0.010504	0	0
ILDR1	286676	broad.mit.edu	37	3	121712741	121712741	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:121712741G>A	ENST00000273691.3	-	6	828	c.723C>T	c.(721-723)gtC>gtT	p.V241V	ILDR1_ENST00000462014.1_Silent_p.V253V|ILDR1_ENST00000393631.1_Silent_p.V196V|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Silent_p.V285V	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	285						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)		AATACTCCAGGACACCATTGG	0.567000													21	32					0	0	0.004656	0	0
BMP6	654	broad.mit.edu	37	6	7845444	7845444	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr6:7845444C>T	ENST00000283147.6	+	2	895	c.736C>T	c.(736-738)Cct>Tct	p.P246S		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	246					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					ATCCCAGATTCCTGAGGGTGA	0.433000													24	76					0	0	0.013726	0	0
USP4	7375	broad.mit.edu	37	3	49339873	49339873	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:49339873G>A	ENST00000351842.4	-	9	1098	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	USP4_ENST00000488520.1_5'UTR|USP4_ENST00000265560.4_Missense_Mutation_p.R411W	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	411					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TTCTTTACCCGGTTCAGATCT	0.458000													25	71					0	0	0.004656	0	0
VWA3A	146177	broad.mit.edu	37	16	22135021	22135021	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:22135021G>A	ENST00000389398.5	+	16	1621	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	509						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CACAGTCTGTGAAAAAAGGTA	0.502000													21	96					0	0	0.010504	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947173	57947173	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:57947173T>C	ENST00000335397.3	+	3	573	c.257T>C	c.(256-258)cTg>cCg	p.L86P		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	86					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)				GCAGTGCTGCTGGAGCATGGG	0.532000													33	47					0	0	0.010818	0	0
SPTA1	6708	broad.mit.edu	37	1	158632604	158632604	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:158632604G>A	ENST00000368148.3	-	17	2532	c.2352C>T	c.(2350-2352)acC>acT	p.T784T	SPTA1_ENST00000368147.3_Silent_p.T784T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	784					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)					TCTTCTTTCGGGTGGCCAGTG	0.473000													6	38					0	0	0.001984	0	0
EGFLAM	133584	broad.mit.edu	37	5	38458457	38458457	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:38458457C>T	ENST00000322350.5	+	20	3078	c.2732C>T	c.(2731-2733)tCc>tTc	p.S911F	EGFLAM_ENST00000506135.1_Missense_Mutation_p.S54F|EGFLAM_ENST00000336740.6_Missense_Mutation_p.S677F|EGFLAM_ENST00000514476.1_Missense_Mutation_p.S54F|EGFLAM_ENST00000397202.2_Missense_Mutation_p.S277F|EGFLAM_ENST00000397210.3_Missense_Mutation_p.S54F|EGFLAM_ENST00000354891.3_Missense_Mutation_p.S919F	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	919	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)					GTGAATGGCTCCTTCAACGAT	0.537000													21	60					0	0	0.014323	0	0
EEF2K	29904	broad.mit.edu	37	16	22268095	22268095	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:22268095C>T	ENST00000263026.5	+	7	1119	c.645C>T	c.(643-645)atC>atT	p.I215I		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	215	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TGTGCATCATCGAGCTGAAGG	0.607000													15	27					0	0	0.004007	0	0
KCNF1	3754	broad.mit.edu	37	2	11053017	11053017	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:11053017C>T	ENST00000295082.1	+	1	955	c.465C>T	c.(463-465)gaC>gaT	p.D155D		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	155						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		TGGGCGTGGACGCAGCCGAGG	0.692000													3	34					0	0	0.009096	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382030	41382030	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:41382030C>T	ENST00000377801.3	-	2	784	c.710G>A	c.(709-711)aGa>aAa	p.R237K	PLCXD3_ENST00000328457.3_Missense_Mutation_p.R237K			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	237					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						TCCCTTCTTTCTTCTCTCAGT	0.517000													13	37					0	0	0.013537	0	0
MLF2	8079	broad.mit.edu	37	12	6859156	6859156	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:6859156C>G	ENST00000203630.5	-	7	1061	c.417G>C	c.(415-417)agG>agC	p.R139S	MLF2_ENST00000542154.1_Missense_Mutation_p.R139S|MLF2_ENST00000435120.1_Missense_Mutation_p.R139S|MLF2_ENST00000539187.1_Missense_Mutation_p.R139S			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	139					defense response	cytoplasm|nucleus	protein binding			kidney(2)|large_intestine(3)|lung(4)	9						CCCGAACAGTCCTCCGTGTCT	0.587000													9	77					0	0	0.008291	0	0
OR4D11	219986	broad.mit.edu	37	11	59271951	59271951	+	Silent	SNP	G	G	A	rs116174674	by1000genomes	TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:59271951G>A	ENST00000313253.1	+	1	903	c.903G>A	c.(901-903)ctG>ctA	p.L301L		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	301					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						TGAGAAGACTGAAGAGAAGAC	0.522000													7	29					0	0	0.004482	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724488	7724488	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:7724488C>T	ENST00000303635.7	+	9	2088	c.1881C>T	c.(1879-1881)gtC>gtT	p.V627V	CAMTA1_ENST00000439411.2_Silent_p.V627V	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	627					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)		CCCTCCCCGTCGAGCAGAACA	0.647000			T	WWTR1	epitheliod hemangioendothelioma								56	206					0	0	0.014410	0	0
SVIL	6840	broad.mit.edu	37	10	29813449	29813449	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr10:29813449C>T	ENST00000375398.2	-	16	2987	c.2538G>A	c.(2536-2538)atG>atA	p.M846I	SVIL_ENST00000375400.3_Missense_Mutation_p.M420I|SVIL_ENST00000355867.4_Missense_Mutation_p.M846I			O95425	SVIL_HUMAN	supervillin	846					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AGCGAGCGTTCATTCTCCTCT	0.468000													41	48					0	0	0.006999	0	0
OTOGL	283310	broad.mit.edu	37	12	80714217	80714217	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:80714217C>T	ENST00000458043.2	+	33	3797	c.3791C>T	c.(3790-3792)tCc>tTc	p.S1264F	OTOGL_ENST00000547103.1_Missense_Mutation_p.S1264F	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GCACTTGTTTCCTTGGAATCT	0.403000													9	36					0	0	0.008291	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202520	140202520	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:140202520C>T	ENST00000529859.1	+	1	1160	c.1160C>T	c.(1159-1161)tCc>tTc	p.S387F	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.S387F|PCDHA5_ENST00000529619.1_Missense_Mutation_p.S387F|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_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)			GTGACCTGCTCCCTAATGCCC	0.577000													51	76					0	0	0.014410	0	0
USP40	55230	broad.mit.edu	37	2	234402079	234402079	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:234402079G>A	ENST00000251722.6	-	25	3023	c.2906C>T	c.(2905-2907)tCc>tTc	p.S969F	USP40_ENST00000450966.1_Missense_Mutation_p.S981F|USP40_ENST00000427112.2_Missense_Mutation_p.S969F|USP40_ENST00000409945.1_Missense_Mutation_p.S145F			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	969					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		ACCTTGGCTGGAAGTGGCTCT	0.478000													15	27					0	0	0.008871	0	0
AFMID	125061	broad.mit.edu	37	17	76201792	76201792	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:76201792C>T	ENST00000409257.5	+	9	807	c.753C>T	c.(751-753)ttC>ttT	p.F251F	AFMID_ENST00000588800.1_Intron|AFMID_ENST00000327898.5_Silent_p.F251F|AFMID_ENST00000591952.1_Intron|AFMID_ENST00000589664.1_Intron	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	arylformamidase	251						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CCCCCGAATTCCACCGACAGT	0.592000													6	58					0	0	0.003080	0	0
CNGA2	1260	broad.mit.edu	37	X	150912026	150912026	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chrX:150912026C>A	ENST00000329903.4	+	6	1084	c.1051C>A	c.(1051-1053)Cta>Ata	p.L351I		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	351					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)					TGAGGAGTACCTATTTGTCAT	0.507000													50	23					9.52127e-25	1.00838e-24	0.014410	1	0
CDH18	1016	broad.mit.edu	37	5	19721488	19721488	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:19721488C>T	ENST00000507958.1	-	7	1601	c.611G>A	c.(610-612)gGa>gAa	p.G204E	CDH18_ENST00000502796.1_Missense_Mutation_p.G204E|CDH18_ENST00000382275.1_Missense_Mutation_p.G204E|CDH18_ENST00000506372.1_Missense_Mutation_p.G204E|CDH18_ENST00000511273.1_Missense_Mutation_p.G204E|CDH18_ENST00000274170.4_Missense_Mutation_p.G204E			Q13634	CAD18_HUMAN	cadherin 18, type 2	204	Cadherin 2.				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)					GTAGGGTTGTCCTTGGAGAAT	0.468000													36	60					0	0	0.006999	0	0
COL11A2	1302	broad.mit.edu	37	6	33148928	33148928	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr6:33148928C>T	ENST00000341947.2	-	9	1366	c.1139G>A	c.(1138-1140)gGg>gAg	p.G380E	COL11A2_ENST00000361917.1_Missense_Mutation_p.G273E|COL11A2_ENST00000395197.1_Missense_Mutation_p.G320E|COL11A2_ENST00000374713.1_Missense_Mutation_p.G333E|COL11A2_ENST00000374712.1_Missense_Mutation_p.G299E|COL11A2_ENST00000374714.1_Missense_Mutation_p.G354E|COL11A2_ENST00000357486.1_Missense_Mutation_p.G359E|COL11A2_ENST00000374708.4_Missense_Mutation_p.G294E	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	380	Nonhelical 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						TCCCTTCAGCCCTCGGGGTCC	0.577000													12	71					0	0	0.006122	0	0
OTOL1	131149	broad.mit.edu	37	3	161221501	161221501	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:161221501G>A	ENST00000327928.4	+	4	1205	c.1205G>A	c.(1204-1206)cGa>cAa	p.R402Q		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	402	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CGACCTGCTCGAATCAGTCTG	0.468000													20	11					0	0	0.008871	0	0
BRINP1	1620	broad.mit.edu	37	9	121929509	121929509	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:121929509C>T	ENST00000265922.3	-	8	2600	c.2139G>A	c.(2137-2139)ggG>ggA	p.G713G	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		713					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GCTGGGGTTTCCCCGGGGCCA	0.552000													40	43					0	0	0.009718	0	0
C1R	715	broad.mit.edu	37	12	7188537	7188537	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:7188537C>T	ENST00000542285.1	-	11	1410	c.1261G>A	c.(1261-1263)Ggc>Agc	p.G421S				P00736	C1R_HUMAN	complement component 1, r subcomponent	473	Sushi 2.				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)	GGGAAGTTGCCCATCTTGGCT	0.637000													3	17					0	0	0.009096	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377769	125377769	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:125377769C>T	ENST00000297913.2	+	1	822	c.753C>T	c.(751-753)ttC>ttT	p.F251F	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						TGGCCATATTCTATGGCACCC	0.557000													48	40					0	0	0.014410	0	0
DNAH5	1767	broad.mit.edu	37	5	13823471	13823471	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:13823471C>T	ENST00000265104.4	-	40	6692	c.6588G>A	c.(6586-6588)gaG>gaA	p.E2196E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2196					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)					AGGGTTCATCCTCATCAATCT	0.378000									Kartagener syndrome				18	34					0	0	0.008871	0	0
PROM2	150696	broad.mit.edu	37	2	95954337	95954337	+	Splice_Site	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:95954337G>A	ENST00000317620.9	+	22	2574	c.2441_splice	c.e22+1	p.S814_splice	PROM2_ENST00000403131.2_Splice_Site_p.S814_splice|PROM2_ENST00000542147.1_Splice_Site_p.S765_splice|PROM2_ENST00000317668.4_Splice_Site_p.S814_splice	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	814						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AAACGCCTCAGGTGAGGGGCT	0.617000													21	53					0	0	0.007291	0	0
C9orf3	84909	broad.mit.edu	37	9	97535328	97535328	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:97535328T>C	ENST00000375315.2	+	2	842	c.842T>C	c.(841-843)cTt>cCt	p.L281P	C9orf3_ENST00000297979.5_Missense_Mutation_p.L281P|C9orf3_ENST00000277198.2_Missense_Mutation_p.L281P	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	281					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AACAGGGCCCTTTTTCCATGC	0.463000													3	97					0	0	0.004672	0	0
UPB1	51733	broad.mit.edu	37	22	24909338	24909338	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr22:24909338G>A	ENST00000413389.2	+	5	1895	c.302G>A	c.(301-303)cGa>cAa	p.R101Q	UPB1_ENST00000326010.5_Missense_Mutation_p.R169Q			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	169	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					ATCCTGGAACGAGACAGCGAG	0.488000													28	75					0	0	0.015359	0	0
ELMO1	9844	broad.mit.edu	37	7	37298863	37298863	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:37298863C>T	ENST00000310758.4	-	6	983	c.336G>A	c.(334-336)cgG>cgA	p.R112R	ELMO1_ENST00000448602.1_Silent_p.R112R|ELMO1_ENST00000442504.1_Silent_p.R112R	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	112					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ACGTGACATCCCGGGAGAGGC	0.542000													29	29					0	0	0.017118	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140788198	140788198	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:140788198C>T	ENST00000520790.1	+	1	429	c.429C>T	c.(427-429)ttC>ttT	p.F143F	PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGAAATTTTCGAATCTGCAT	0.348000													25	24					0	0	0.021523	0	0
CDH9	1007	broad.mit.edu	37	5	26903765	26903765	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:26903765C>T	ENST00000231021.4	-	6	1152	c.980G>A	c.(979-981)gGg>gAg	p.G327E		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	327	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AGTTATAATCCCTTCCTGTGT	0.408000													55	111					0	0	0.014410	0	0
TESPA1	9840	broad.mit.edu	37	12	55356925	55356925	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:55356925G>A	ENST00000524622.1	-	7	1004	c.343C>T	c.(343-345)Cac>Tac	p.H115Y	TESPA1_ENST00000531122.1_Missense_Mutation_p.H115Y|TESPA1_ENST00000316577.8_Missense_Mutation_p.H253Y|TESPA1_ENST00000532804.1_Missense_Mutation_p.H115Y|TESPA1_ENST00000449076.1_Missense_Mutation_p.H253Y	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	253																	CAGAACATGTGGGATGGTGTG	0.512000													3	31					0	0	0.009096	0	0
CACNG6	59285	broad.mit.edu	37	19	54496162	54496162	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:54496162G>A	ENST00000252729.2	+	1	621	c.31G>A	c.(31-33)Gag>Aag	p.E11K	CACNG6_ENST00000352529.1_Missense_Mutation_p.E11K|CACNG6_ENST00000346968.2_Missense_Mutation_p.E11K	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	11						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	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;0.168)		CCTGCAAGAGGAGAAccggcg	0.736000													14	24					0	0	0.006122	0	0
TSHR	7253	broad.mit.edu	37	14	81610646	81610646	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr14:81610646C>T	ENST00000541158.2	+	11	2566	c.2244C>T	c.(2242-2244)acC>acT	p.T748T	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Silent_p.T748T			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	748					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CCCATCTAACCCCAAAGAAGC	0.408000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						12	52					0	0	0.004007	0	0
EPDR1	54749	broad.mit.edu	37	7	37988585	37988585	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:37988585C>T	ENST00000199448.4	+	2	792	c.413C>T	c.(412-414)tCc>tTc	p.S138F	EPDR1_ENST00000476620.1_Missense_Mutation_p.S36F|EPDR1_ENST00000425345.1_Missense_Mutation_p.S77F|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000559325.1_Missense_Mutation_p.S258F	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	138					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						GACCAGTACTCCATCGGGGGG	0.512000													18	58					0	0	0.021022	0	0
MYO16	23026	broad.mit.edu	37	13	109704766	109704766	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr13:109704766G>A	ENST00000356711.2	+	25	3051	c.2925G>A	c.(2923-2925)aaG>aaA	p.K975K	MYO16_ENST00000457511.2_Silent_p.K487K|MYO16_ENST00000357550.2_Silent_p.K975K	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	975	Myosin head-like 2.				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)			TGCTCAGTAAGAAAATGACAG	0.343000													10	55					0	0	0.013537	0	0
CRNN	49860	broad.mit.edu	37	1	152382652	152382652	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:152382652C>T	ENST00000271835.3	-	3	968	c.906G>A	c.(904-906)gtG>gtA	p.V302V	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	302	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGCTCCACGGTCTGGG	0.612000													176	185					0	0	0.014410	0	0
TMED9	54732	broad.mit.edu	37	5	177022373	177022373	+	Missense_Mutation	SNP	A	A	G	rs11545862		TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:177022373A>G	ENST00000332598.6	+	5	721	c.664A>G	c.(664-666)Atg>Gtg	p.M222V		NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain containing 9	222					transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)			TGTCTGGCAGATGCGGCACCT	0.602000													18	67					0	0	0.016522	0	0
TMEM185A	84548	broad.mit.edu	37	X	148690451	148690451	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chrX:148690451T>C	ENST00000316916.8	-	3	590	c.286A>G	c.(286-288)Atg>Gtg	p.M96V	TMEM185A_ENST00000507237.1_Missense_Mutation_p.M96V|TMEM185A_ENST00000536359.1_Missense_Mutation_p.M37V	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	96						integral to membrane				kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ACTTCAAACATCAACAAGAGC	0.478000													81	38					0	0	0.014410	0	0
FEM1C	56929	broad.mit.edu	37	5	114860483	114860483	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:114860483A>T	ENST00000274457.3	-	3	1937	c.1376T>A	c.(1375-1377)cTa>cAa	p.L459Q		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	459						cytoplasm				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		GTCTTGTTCTAGAGTACAAGG	0.388000													11	63					0	0	0.010729	0	0
DOCK3	1795	broad.mit.edu	37	3	51265425	51265425	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:51265425G>A	ENST00000266037.9	+	17	1576	c.1553G>A	c.(1552-1554)gGg>gAg	p.G518E		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	518	DHR-1.					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)		AAGGACAAAGGGGAAAAGAAA	0.428000													9	21					0	0	0.006214	0	0
CCDC54	84692	broad.mit.edu	37	3	107096864	107096864	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:107096864G>A	ENST00000261058.1	+	1	677	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	144										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GACAGAACTGGAAATTCAGAA	0.388000													23	32					0	0	0.014323	0	0
TRPM7	54822	broad.mit.edu	37	15	50884667	50884667	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr15:50884667C>T	ENST00000313478.7	-	26	4046	c.3765G>A	c.(3763-3765)tcG>tcA	p.S1255S	TRPM7_ENST00000560955.1_Silent_p.S1255S	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1255					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TGCTAGCTTCCGACGCTTTCT	0.393000													19	133					0	0	0.016522	0	0
SQSTM1	8878	broad.mit.edu	37	5	179263543	179263543	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:179263543G>A	ENST00000389805.4	+	8	1451	c.1273G>A	c.(1273-1275)Gga>Aga	p.G425R	SQSTM1_ENST00000360718.5_Missense_Mutation_p.G341R|SQSTM1_ENST00000510187.1_Silent_p.S341S|SQSTM1_ENST00000402874.3_Missense_Mutation_p.G341R|SQSTM1_ENST00000376929.3_Missense_Mutation_p.G341R|C5orf45_ENST00000403396.2_3'UTR	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	425	Interaction with NTRK1 (By similarity).|UBA.		G -> R (in PDB; loss of polyubiquitin- binding).		anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTATGACATCGGAGCGGCTCT	0.577000													21	112					0	0	0.014323	0	0
ASPH	444	broad.mit.edu	37	8	62416020	62416020	+	Silent	SNP	G	G	A	rs112982646		TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr8:62416020G>A	ENST00000541428.1	-	25	2248	c.2088C>T	c.(2086-2088)caC>caT	p.H696H	ASPH_ENST00000379454.4_Silent_p.H725H	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	725					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GCCATACCTCGTGCTCAAAGG	0.498000													4	48					0	0	0.014758	0	0
RCOR3	55758	broad.mit.edu	37	1	211462663	211462663	+	Silent	SNP	A	A	T	rs150197033		TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:211462663A>T	ENST00000367005.4	+	7	831	c.690A>T	c.(688-690)gcA>gcT	p.A230A	RCOR3_ENST00000367006.4_Silent_p.A288A|RCOR3_ENST00000419091.2_Silent_p.A288A|RCOR3_ENST00000452621.2_Silent_p.A288A	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		ATGTGGTAGCAGTTTCCTGTA	0.418000													17	56					0	0	0.006122	0	0
KLKB1	3818	broad.mit.edu	37	4	187175880	187175880	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr4:187175880C>T	ENST00000264690.6	+	12	1639	c.1452C>T	c.(1450-1452)atC>atT	p.I484I	KLKB1_ENST00000513864.1_Silent_p.I484I	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	484	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		ATCATGATATCGCCTTGATAA	0.343000													8	33					0	0	0.003080	0	0
SLC45A1	50651	broad.mit.edu	37	1	8397904	8397904	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:8397904C>T	ENST00000471889.1	+	7	2011	c.1626C>T	c.(1624-1626)ctC>ctT	p.L542L	SLC45A1_ENST00000377479.2_Silent_p.L576L|SLC45A1_ENST00000289877.8_Silent_p.L542L			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	542					carbohydrate transport	integral to membrane	symporter activity	p.L542L(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGATGTTGCTCTTCTACACAG	0.557000													27	76					0	0	0.015359	0	0
SCUBE2	57758	broad.mit.edu	37	11	9069050	9069050	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:9069050G>A	ENST00000457346.2	-	16	1929	c.1855C>T	c.(1855-1857)Cgc>Tgc	p.R619C	SCUBE2_ENST00000520467.1_Missense_Mutation_p.R619C|SCUBE2_ENST00000309263.3_Missense_Mutation_p.R590C|SCUBE2_ENST00000450649.2_Missense_Mutation_p.R464C|RP11-467K18.2_ENST00000531592.1_RNA			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	590						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CTGAGCGTGCGGATGGCTTTA	0.562000													6	43					0	0	0.006214	0	0
TRAV17	28666	broad.mit.edu	37	14	22465947	22465947	+	RNA	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr14:22465947C>T	ENST00000390445.2	+	0	170																											CTGGGAGTGTCTTTGGTGATT	0.473000													9	20					0	0	0.013537	0	0
KIAA1324	57535	broad.mit.edu	37	1	109716108	109716108	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:109716108C>T	ENST00000369939.3	+	6	892	c.709C>T	c.(709-711)Cga>Tga	p.R237*	KIAA1324_ENST00000529753.1_Nonsense_Mutation_p.R237*	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	237					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GGAGCTAAATCGAGGCAATAA	0.438000													13	48					0	0	0.004007	0	0
OR5H14	403273	broad.mit.edu	37	3	97868547	97868547	+	Silent	SNP	C	C	T	rs148407623	by1000genomes	TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:97868547C>T	ENST00000437310.1	+	1	378	c.318C>T	c.(316-318)atC>atT	p.I106I		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CGTTTGCAATCAGTGTAACCA	0.398000													67	117					0	0	0.014410	0	0
SMC1B	27127	broad.mit.edu	37	22	45765886	45765886	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr22:45765886G>A	ENST00000357450.4	-	15	2367	c.2368C>T	c.(2368-2370)Cgt>Tgt	p.R790C	SMC1B_ENST00000404354.3_Missense_Mutation_p.R790C	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	790					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCAAATTCACGAATATTTTCC	0.264000													16	23					0	0	0.010504	0	0
RIPK4	54101	broad.mit.edu	37	21	43161492	43161492	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr21:43161492G>A	ENST00000352483.2	-	9	2069	c.2005C>T	c.(2005-2007)Cgc>Tgc	p.R669C	RIPK4_ENST00000542057.1_Missense_Mutation_p.R558C|RIPK4_ENST00000544709.1_Missense_Mutation_p.R558C|RIPK4_ENST00000332512.3_Missense_Mutation_p.R621C			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	621						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ATGAGGATGCGGGCCACGCGG	0.692000													13	82					0	0	0.003163	0	0
KIAA1217	56243	broad.mit.edu	37	10	24820871	24820871	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr10:24820871G>A	ENST00000376451.2	+	10	2504	c.2244G>A	c.(2242-2244)acG>acA	p.T748T	KIAA1217_ENST00000376452.3_Silent_p.T1029T|KIAA1217_ENST00000307544.6_Silent_p.T748T|KIAA1217_ENST00000396445.1_Silent_p.T748T|KIAA1217_ENST00000396446.1_Silent_p.T748T|KIAA1217_ENST00000458595.1_Silent_p.T1030T|KIAA1217_ENST00000376462.1_Silent_p.T985T|KIAA1217_ENST00000376454.3_Silent_p.T1065T			Q5T5P2	SKT_HUMAN	KIAA1217	1065					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						TCACCACCACGAGGTCAGGCG	0.577000													37	24					0	0	0.006230	0	0
MED25	81857	broad.mit.edu	37	19	50335259	50335259	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:50335259G>A	ENST00000312865.6	+	11	1350	c.1297G>A	c.(1297-1299)Gtg>Atg	p.V433M	MED25_ENST00000538643.1_Missense_Mutation_p.V220M	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	433	Interaction with CREBBP.|Interaction with VP16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		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;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CCAGGTCTACGTGAATCATGG	0.602000													12	70					0	0	0.016723	0	0
MYPOP	339344	broad.mit.edu	37	19	46393885	46393885	+	Missense_Mutation	SNP	G	G	A	rs147675790	by1000genomes	TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:46393885G>A	ENST00000322217.5	-	3	1282	c.1196C>T	c.(1195-1197)cCg>cTg	p.P399L		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	399						nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						TAGATTTCACGGAGATTTCCA	0.642000													11	69					0	0	0.020292	0	0
LPAL2	80350	broad.mit.edu	37	6	160905108	160905108	+	RNA	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr6:160905108G>A	ENST00000335388.5	-	0	1019					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GGTTTGGAAGGATCCTCTAGG	0.512000													15	48					0	0	0.008871	0	0
TEK	7010	broad.mit.edu	37	9	27169478	27169478	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:27169478C>T	ENST00000380036.4	+	4	921	c.479C>T	c.(478-480)tCc>tTc	p.S160F	TEK_ENST00000519097.1_Missense_Mutation_p.S56F|TEK_ENST00000406359.4_Missense_Mutation_p.S160F	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	160					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TTACTAGGTTCCTTCATCCAT	0.493000													117	64					0	0	0.014410	0	0
RASGRF2	5924	broad.mit.edu	37	5	80422926	80422926	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:80422926C>T	ENST00000265080.4	+	17	2697	c.2630C>T	c.(2629-2631)tCa>tTa	p.S877L		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	877					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 transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TGCTCTGTTTCACCGGCTTCT	0.453000													16	46					0	0	0.012319	0	0
AXDND1	126859	broad.mit.edu	37	1	179460760	179460760	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:179460760C>T	ENST00000367618.3	+	19	2566	c.2179C>T	c.(2179-2181)Cta>Tta	p.L727L	AXDND1_ENST00000457238.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	727								p.L727L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGACTGTCTCCTAAAGTTGGA	0.398000													21	101					0	0	0.012319	0	0
FCRL2	79368	broad.mit.edu	37	1	157740251	157740251	+	Silent	SNP	T	T	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:157740251T>C	ENST00000361516.3	-	3	306	c.258A>G	c.(256-258)ggA>ggG	p.G86G	FCRL2_ENST00000392274.3_Silent_p.G86G|FCRL2_ENST00000368181.4_Silent_p.G86G	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	86	Ig-like C2-type 1.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GAAAGAGTTGTCCTTTGGTAC	0.383000													32	65					0	0	0.019004	0	0
PTPRJ	5795	broad.mit.edu	37	11	48157689	48157689	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:48157689C>T	ENST00000418331.2	+	9	2066	c.1714C>T	c.(1714-1716)Cat>Tat	p.H572Y		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	572	Fibronectin type-III 6.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GTATGTCTACCATTTAGTCAT	0.512000													12	38					0	0	0.016723	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174550	150174550	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:150174550G>A	ENST00000307271.3	+	5	2254	c.1680G>A	c.(1678-1680)gcG>gcA	p.A560A		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	560						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CGAAATACGCGATTATGCTGT	0.473000													16	174					0	0	0.007413	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033623	82033623	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	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													22	44					0	0	0.021523	0	0
MYO18B	84700	broad.mit.edu	37	22	26222468	26222468	+	Splice_Site	SNP	T	T	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr22:26222468T>C	ENST00000335473.7	+	14	3036		c.e14+2		MYO18B_ENST00000407587.2_Splice_Site|MYO18B_ENST00000536101.1_Splice_Site	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB							nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CATCAACAGGTAACGGGGCCT	0.547000													59	85					0	0	0.014410	0	0
SVEP1	79987	broad.mit.edu	37	9	113275385	113275385	+	Splice_Site	SNP	A	A	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:113275385A>G	ENST00000401783.2	-	5	1460	c.1123_splice	c.e5-1	p.L375_splice	SVEP1_ENST00000374469.1_Splice_Site_p.L352_splice|SVEP1_ENST00000374461.1_Splice_Site_p.L352_splice|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Splice_Site_p.L375_splice	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	375					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						GCAGTGGACAACTAACATTTA	0.398000													18	9					0	0	0.007413	0	0
CYP2C18	1562	broad.mit.edu	37	10	96443650	96443650	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr10:96443650G>A	ENST00000285979.6	+	1	273	c.74G>A	c.(73-75)gGa>gAa	p.G25E	CYP2C18_ENST00000339022.5_Missense_Mutation_p.G25E	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		CAGAGCTCTGGAAGAGGGAGG	0.483000													27	26					0	0	0.005443	0	0
KRT9	3857	broad.mit.edu	37	17	39725840	39725840	+	Splice_Site	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:39725840C>T	ENST00000246662.4	-	4	948		c.e4-1		KRT9_ENST00000588431.1_Splice_Site	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9						intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				GACTCATCTCCTGCCAGGGAA	0.527000													51	32					0	0	0.014410	0	0
FBXO27	126433	broad.mit.edu	37	19	39516072	39516072	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:39516072G>A	ENST00000292853.4	-	6	950	c.831C>T	c.(829-831)atC>atT	p.I277I	FBXO27_ENST00000509137.2_Silent_p.I277I|FBXO27_ENST00000600828.1_Silent_p.I276I	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	277	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	p.I277I(1)		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)			GGACTCGCACGATCACACTGG	0.587000													20	103					0	0	0.014323	0	0
WDR65	149465	broad.mit.edu	37	1	43675472	43675472	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:43675472C>T	ENST00000372492.4	+	11	2138	c.1814C>T	c.(1813-1815)tCt>tTt	p.S605F	WDR65_ENST00000528956.1_Missense_Mutation_p.S605F	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	605										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATCTCGCATTCTGGACGCATG	0.547000													7	47					0	0	0.003080	0	0
SNHG14	104472715	broad.mit.edu	37	15	25344685	25344685	+	RNA	SNP	A	A	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr15:25344685A>G	ENST00000546682.1	+	0	1475				SNORD116-26_ENST00000516006.1_RNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						TCTCATCGGAATCTGAACAAA	0.448000													22	62					0	0	0.004656	0	0
IL7R	3575	broad.mit.edu	37	5	35876106	35876106	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:35876106C>T	ENST00000303115.3	+	8	1027	c.898C>T	c.(898-900)Cct>Tct	p.P300S	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	300					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)			GAGTTTCAATCCTGAAAGTTT	0.418000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						10	38					0	0	0.008291	0	0
TMX3	54495	broad.mit.edu	37	18	66346769	66346769	+	Splice_Site	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr18:66346769C>T	ENST00000299608.2	-	15	1352		c.e15-1			NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3						cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						CTCCTTGGGCCTTCAAAAAAG	0.328000													5	35					0	0	0.001984	0	0
GOT2	2806	broad.mit.edu	37	16	58749996	58749996	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:58749996G>A	ENST00000245206.5	-	8	1069	c.941C>T	c.(940-942)cCc>cTc	p.P314L	GOT2_ENST00000434819.2_Missense_Mutation_p.P271L|GOT2_ENST00000564400.1_5'UTR	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	314					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GGAATACATGGGACGGATCAA	0.498000													20	18					0	0	0.014323	0	0
SBF1	6305	broad.mit.edu	37	22	50886787	50886787	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr22:50886787G>A	ENST00000380817.2	-	38	5421	c.5238C>T	c.(5236-5238)tcC>tcT	p.S1746S	SBF1_ENST00000390679.3_Silent_p.S1720S|SBF1_ENST00000348911.6_Silent_p.S1721S	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1720					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)		GGCTCAGGGTGGAGCCCACGG	0.682000													3	95					0	0	0.009096	0	0
COMT	1312	broad.mit.edu	37	22	19950226	19950226	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr22:19950226C>T	ENST00000361682.6	+	3	559	c.177C>T	c.(175-177)atC>atT	p.I59I	COMT_ENST00000406520.3_Silent_p.I59I|COMT_ENST00000403184.1_Silent_p.I59I|COMT_ENST00000403710.1_Silent_p.I59I|COMT_ENST00000449653.1_Silent_p.I9I|COMT_ENST00000407537.1_Silent_p.I9I	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN	catechol-O-methyltransferase	59					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	AGCAGCGCATCCTGAACCACG	0.622000													22	17					0	0	0.021523	0	0
ZXDC	79364	broad.mit.edu	37	3	126191117	126191117	+	Silent	SNP	G	G	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:126191117G>C	ENST00000389709.3	-	2	992	c.939C>G	c.(937-939)gcC>gcG	p.A313A	ZXDC_ENST00000336332.5_Silent_p.A313A	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	313					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GGGAAAACAGGGCACTCACTG	0.458000													21	77					0	0	0.021523	0	0
MNX1	3110	broad.mit.edu	37	7	156798384	156798384	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:156798384G>A	ENST00000252971.6	-	3	1336	c.1036C>T	c.(1036-1038)Cgc>Tgc	p.R346C	MNX1_ENST00000469500.1_Intron|MNX1_ENST00000543409.1_Missense_Mutation_p.R134C	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	346				RRLR -> PPA (in Ref. 1; AAB60647).	humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCAGGCGGCGTCCGCTGCCC	0.746000													6	38					0	0	0.004482	0	0
ANGPT4	51378	broad.mit.edu	37	20	870890	870890	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr20:870890G>A	ENST00000381922.3	-	2	533	c.431C>T	c.(430-432)gCc>gTc	p.A144V	ANGPT4_ENST00000546022.1_Missense_Mutation_p.A144V	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	144					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						GCGGATCTGGGCAGTGGTCTG	0.617000													17	41					0	0	0.010504	0	0
DNAH5	1767	broad.mit.edu	37	5	13766132	13766132	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:13766132C>T	ENST00000265104.4	-	59	10158	c.10054G>A	c.(10054-10056)Gaa>Aaa	p.E3352K	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3352	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)					TTTAAGGATTCCTGCCAGGAG	0.448000									Kartagener syndrome				15	78					0	0	0.006122	0	0
ZSCAN32	54925	broad.mit.edu	37	16	3433301	3433301	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:3433301G>A	ENST00000396852.4	-	7	1952	c.1645C>T	c.(1645-1647)Cac>Tac	p.H549Y	LA16c-306E5.2_ENST00000575785.1_RNA|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.H549Y|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.H337Y|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.H260Y					zinc finger and SCAN domain containing 32																		CTGCACTTGTGAGGCTTCTCG	0.507000													6	32					0	0	0.001168	0	0
CECR2	27443	broad.mit.edu	37	22	18028654	18028654	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr22:18028654C>A	ENST00000262608.8	+	16	3614	c.3614C>A	c.(3613-3615)cCa>cAa	p.P1205Q	CECR2_ENST00000400585.2_Missense_Mutation_p.P1062Q|CECR2_ENST00000400573.4_Missense_Mutation_p.P1204Q	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1246					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)		AGCGGACCCCCAGCCAGTCAG	0.557000													11	73					0.000978159	0.000998795	0.010729	1	0
RIMBP2	23504	broad.mit.edu	37	12	130919399	130919399	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:130919399C>G	ENST00000261655.4	-	11	2245	c.2082G>C	c.(2080-2082)gaG>gaC	p.E694D	RIMBP2_ENST00000535703.1_Missense_Mutation_p.E602D|RIMBP2_ENST00000536002.1_Missense_Mutation_p.E602D	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	694						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)		CGCTGCTTCTCTCTAGGAAGA	0.592000													13	72					0	0	0.020292	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72128159	72128159	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr14:72128159C>T	ENST00000555818.1	+	7	2578	c.2230C>T	c.(2230-2232)Ccg>Tcg	p.P744S	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.P219S|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.P744S|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.P744S	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	744	Rap-GAP.				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)		GGTGCACAATCCGTGCTCTGA	0.517000													28	27					0	0	0.015359	0	0
PRIM2	5558	broad.mit.edu	37	6	57398258	57398258	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr6:57398258G>A	ENST00000607273.1	+	10	1048	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	PRIM2_ENST00000389488.2_3'UTR	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	321					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TTTAACTTTGGAACAGACATT	0.383000													17	112					0	0	0.010504	0	0
GOT1	2805	broad.mit.edu	37	10	101163500	101163500	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr10:101163500G>A	ENST00000370508.5	-	6	801	c.774C>T	c.(772-774)tcC>tcT	p.S258S	GOT1_ENST00000543866.1_Silent_p.S237S	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	258					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CGAAGTTCTTGGAGAAGGACT	0.552000													32	27					0	0	0.019004	0	0
UROC1	131669	broad.mit.edu	37	3	126220130	126220130	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:126220130G>A	ENST00000383579.3	-	11	1109	c.1076C>T	c.(1075-1077)cCt>cTt	p.P359L	UROC1_ENST00000290868.2_Intron	NM_001165974.1	NP_001159446.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	0					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TTCCCTGGAAGGACACAAAAG	0.592000													60	79					0	0	0.014410	0	0
THADA	63892	broad.mit.edu	37	2	43779019	43779019	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:43779019G>A	ENST00000405006.4	-	19	3207	c.2856C>T	c.(2854-2856)ctC>ctT	p.L952L	THADA_ENST00000415080.2_Silent_p.L662L|THADA_ENST00000405975.2_Silent_p.L952L|THADA_ENST00000330266.7_Silent_p.L662L	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	952							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ACATCAAAAGGAGCTTCTCTA	0.453000													26	37					0	0	0.007291	0	0
EPS15L1	58513	broad.mit.edu	37	19	16513163	16513163	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:16513163G>A	ENST00000602009.1	-	10	2193	c.1298C>T	c.(1297-1299)tCc>tTc	p.S433F	EPS15L1_ENST00000594975.1_Missense_Mutation_p.S587F|EPS15L1_ENST00000597937.1_Missense_Mutation_p.S587F|EPS15L1_ENST00000455140.2_Missense_Mutation_p.S587F|EPS15L1_ENST00000248070.6_Missense_Mutation_p.S587F|EPS15L1_ENST00000535753.2_Missense_Mutation_p.S587F			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	587					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CTCTGCCAGGGAGACGCCTTC	0.597000													19	104					0	0	0.018920	0	0
BPIFB1	92747	broad.mit.edu	37	20	31889048	31889048	+	Silent	SNP	T	T	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr20:31889048T>C	ENST00000253354.1	+	9	918	c.757T>C	c.(757-759)Ttg>Ctg	p.L253L	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	253						extracellular space	lipid binding										GGCCAAGTTGTTGGACTCACA	0.498000													30	125					0	0	0.009535	0	0
FMO5	2330	broad.mit.edu	37	1	146658593	146658593	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:146658593C>T	ENST00000254090.4	-	9	1876	c.1488G>A	c.(1486-1488)agG>agA	p.R496R	FMO5_ENST00000369272.3_3'UTR|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000441068.2_Intron	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	496						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)					TCAGAGGCTTCCTGATGCGAT	0.453000													22	37					0	0	0.016522	0	0
ASH1L	55870	broad.mit.edu	37	1	155316192	155316192	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:155316192G>A	ENST00000368346.3	-	21	8526	c.7887C>T	c.(7885-7887)gaC>gaT	p.D2629D	ASH1L_ENST00000392403.3_Silent_p.D2624D|MIR555_ENST00000384987.1_RNA			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2629					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)			CAGGCCTTGGGTCACACTGCT	0.478000													35	183					0	0	0.006999	0	0
FBXO18	84893	broad.mit.edu	37	10	5953047	5953047	+	Silent	SNP	G	G	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr10:5953047G>T	ENST00000379999.5	+	7	1424	c.1320G>T	c.(1318-1320)gtG>gtT	p.V440V	FBXO18_ENST00000362091.4_Silent_p.V389V|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379994.1_Silent_p.V126V	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	389					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GCATAGCCGTGCTTCTCTACG	0.572000													53	73					1.85257e-25	1.97065e-25	0.014410	1	0
SLC35E4	339665	broad.mit.edu	37	22	31042757	31042757	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr22:31042757G>A	ENST00000343605.4	+	2	1591	c.792G>A	c.(790-792)ctG>ctA	p.L264L	SLC35E4_ENST00000406566.1_Intron|SLC35E4_ENST00000300385.8_Intron	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	264	Leu-rich.					integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GCTGCCTCCTGTCTGTTCTCT	0.667000													5	47					0	0	0.014758	0	0
LINC00957	255031	broad.mit.edu	37	7	44080523	44080523	+	RNA	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:44080523C>T	ENST00000441052.1	+	0	1208																											GGGCCTGATCCCAACCCGCTG	0.627000													7	10					0	0	0.003080	0	0
GRM6	2916	broad.mit.edu	37	5	178410195	178410195	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:178410195C>T	ENST00000231188.5	-	9	2330	c.2152G>A	c.(2152-2154)Gcc>Acc	p.A718T	GRM6_ENST00000517717.1_Missense_Mutation_p.A718T|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	718					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		GGGGGCCGGGCCCCCAGCCAT	0.612000													6	47					0	0	0.004482	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882732	228882732	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:228882732C>T	ENST00000392056.3	-	7	2884	c.2838G>A	c.(2836-2838)gcG>gcA	p.A946A	SPHKAP_ENST00000344657.5_Silent_p.A946A	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	946	PKA-RII subunit binding domain (By similarity).					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)		CAAGGCAAATCGCTGCAATTT	0.473000													51	80					0	0	0.014410	0	0
RASSF9	9182	broad.mit.edu	37	12	86199525	86199525	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:86199525C>T	ENST00000361228.3	-	2	631	c.263G>A	c.(262-264)aGg>aAg	p.R88K		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	88	Ras-associating.				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGGAAGAACCCTTTCGGAGCC	0.458000													34	58					0	0	0.017118	0	0
FNTB	2342	broad.mit.edu	37	14	65499385	65499385	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr14:65499385C>T	ENST00000246166.2	+	7	897	c.663C>T	c.(661-663)ctC>ctT	p.L221L	CHURC1-FNTB_ENST00000542227.1_Silent_p.L175L|CHURC1-FNTB_ENST00000447296.2_Silent_p.L255L|CHURC1-FNTB_ENST00000448390.2_5'UTR|MAX_ENST00000341653.2_Intron	NM_002028.3	NP_002019.1			farnesyltransferase, CAAX box, beta											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CTCCAGACCTCTTTGAGGGCA	0.507000													14	23					0	0	0.016723	0	0
REPIN1	29803	broad.mit.edu	37	7	150069948	150069948	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:150069948G>T	ENST00000397281.2	+	4	2107	c.1618G>T	c.(1618-1620)Gac>Tac	p.D540Y	REPIN1_ENST00000425389.2_Missense_Mutation_p.D540Y|REPIN1_ENST00000444957.1_Missense_Mutation_p.D540Y|REPIN1_ENST00000540729.1_Missense_Mutation_p.D540Y|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000489432.2_Missense_Mutation_p.D597Y	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	540					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)			CCACATCCGGGACGGCGCCTT	0.657000													8	61					0.000274275	0.000280654	0.004482	1	0
TTN	7273	broad.mit.edu	37	2	179612932	179612932	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:179612932G>A	ENST00000360870.5	-	46	14417	c.14195C>T	c.(14194-14196)tCa>tTa	p.S4732L	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	843	Ig-like 27.						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)			TAGGGCACATGATTCACTATA	0.353000													17	29					0	0	0.007413	0	0
RTKN2	219790	broad.mit.edu	37	10	64022432	64022432	+	Missense_Mutation	SNP	G	G	A	rs138538612		TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr10:64022432G>A	ENST00000373789.3	-	2	305	c.209C>T	c.(208-210)tCg>tTg	p.S70L	RTKN2_ENST00000395265.1_Missense_Mutation_p.S70L|RTKN2_ENST00000395260.3_Missense_Mutation_p.S70L	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	70					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)					CTGTAGCTCCGATGTATAGGC	0.363000													37	44					0	0	0.008740	0	0
PEG3	5178	broad.mit.edu	37	19	57326480	57326480	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:57326480C>A	ENST00000326441.9	-	10	3693	c.3330G>T	c.(3328-3330)gaG>gaT	p.E1110D	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E1110D|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E986D|PEG3_ENST00000593695.1_Missense_Mutation_p.E984D|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1110					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)		GGCCACAGTCCTCACATTCAT	0.502000													43	60					1.86633e-21	1.97228e-21	0.014410	1	0
SIK3	23387	broad.mit.edu	37	11	116747031	116747031	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:116747031G>A	ENST00000375300.1	-	8	1038	c.1033C>T	c.(1033-1035)Ctg>Ttg	p.L345L	SIK3_ENST00000434315.2_Silent_p.L186L|SIK3_ENST00000446921.2_Silent_p.L345L|SIK3_ENST00000542607.1_Silent_p.L287L|SIK3_ENST00000292055.4_Silent_p.L287L|SIK3_ENST00000375288.1_5'UTR			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	287						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCCTCATTCAGGGGGTCCACC	0.468000													22	71					0	0	0.004656	0	0
SMYD3	64754	broad.mit.edu	37	1	245927409	245927409	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:245927409C>T	ENST00000490107.1	-	11	1158	c.942G>A	c.(940-942)gtG>gtA	p.V314V	SMYD3_ENST00000541742.1_Silent_p.V314V|SMYD3_ENST00000366517.1_5'UTR|SMYD3_ENST00000388985.4_Silent_p.V373V	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	373						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		CAACTTTCATCACTTGAACCC	0.483000													17	87					0	0	0.010504	0	0
AHSP	51327	broad.mit.edu	37	16	31539884	31539884	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:31539884C>T	ENST00000302312.4	+	3	284	c.181C>T	c.(181-183)Caa>Taa	p.Q61*	AHSP_ENST00000569954.1_3'UTR	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN	alpha hemoglobin stabilizing protein	61					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding			lung(2)	2						AGGGGAGCCCCAAGAGCGAGA	0.532000													14	60					0	0	0.020292	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38645379	38645379	+	RNA	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr10:38645379G>A	ENST00000494540.1	+	0	72					NR_003086.1																						GTGAGTGCGCGAAGATGCGAA	0.597000													9	16					0	0	0.013537	0	0
NFX1	4799	broad.mit.edu	37	9	33354888	33354888	+	Silent	SNP	A	A	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:33354888A>G	ENST00000379540.3	+	19	2933	c.2871A>G	c.(2869-2871)aaA>aaG	p.K957K	NFX1_ENST00000379521.4_Silent_p.K957K	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	957					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)		TGGAAaggaaaaagtaagtag	0.433000													18	17					0	0	0.014323	0	0
LMO1	4004	broad.mit.edu	37	11	8248605	8248605	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:8248605C>T	ENST00000335790.3	-	3	777	c.282G>A	c.(280-282)ctG>ctA	p.L94L	LMO1_ENST00000534484.1_Silent_p.L83L|LMO1_ENST00000428101.2_Silent_p.L93L	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN	LIM domain only 1 (rhombotin 1)	94	LIM zinc-binding 2.				cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		AGGCTGGGATCAGCTTGCTGC	0.627000			"""T, A"""	TRD@	"""T-ALL, neuroblastoma"""	neuroblastoma							14	40					0	0	0.004007	0	0
UCHL1	7345	broad.mit.edu	37	4	41270104	41270104	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr4:41270104G>A	ENST00000512788.1	+	9	747	c.715G>A	c.(715-717)Gga>Aga	p.G239R	UCHL1_ENST00000503431.1_3'UTR|UCHL1_ENST00000508768.1_3'UTR|UCHL1_ENST00000284440.4_3'UTR			P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	0					cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						TCTGTGGGAGGGACTTTGCTG	0.507000													8	16					0	0	0.008291	0	0
NDST3	9348	broad.mit.edu	37	4	119161842	119161842	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr4:119161842C>T	ENST00000296499.5	+	11	2685	c.2282C>T	c.(2281-2283)cCa>cTa	p.P761L		NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	761	Heparan sulfate N-sulfotransferase 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						TATTTCCCCCCATTTCAGGTA	0.438000													7	26					0	0	0.001984	0	0
OR1L4	254973	broad.mit.edu	37	9	125486956	125486956	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:125486956C>T	ENST00000259466.1	+	1	688	c.688C>T	c.(688-690)Ccc>Tcc	p.P230S		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						GCTCAGAATCCCCTCTGCAGC	0.522000													63	226					0	0	0.014410	0	0
FEM1C	56929	broad.mit.edu	37	5	114860482	114860482	+	Silent	SNP	T	T	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:114860482T>C	ENST00000274457.3	-	3	1938	c.1377A>G	c.(1375-1377)ctA>ctG	p.L459L		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	459						cytoplasm				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		GGTCTTGTTCTAGAGTACAAG	0.388000													12	63					0	0	0.013537	0	0
SATB2	23314	broad.mit.edu	37	2	200137016	200137016	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:200137016G>A	ENST00000443023.1	-	10	3408	c.1943C>T	c.(1942-1944)tCc>tTc	p.S648F	SATB2_ENST00000417098.1_Missense_Mutation_p.S707F|SATB2_ENST00000457245.1_Missense_Mutation_p.S707F|SATB2_ENST00000428695.1_Missense_Mutation_p.S589F|SATB2_ENST00000260926.5_Missense_Mutation_p.S707F			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	707						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CATCTCCTCGGAGCCTTCCTC	0.542000													31	65					0	0	0.012213	0	0
OSMR	9180	broad.mit.edu	37	5	38904069	38904069	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:38904069G>A	ENST00000274276.3	+	8	1479	c.1077G>A	c.(1075-1077)agG>agA	p.R359R		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	359	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)					ACTCCATAAGGAATAATTTCA	0.313000													3	23					0	0	0.009096	0	0
CDON	50937	broad.mit.edu	37	11	125891409	125891409	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:125891409G>C	ENST00000392693.3	-	3	210	c.83C>G	c.(82-84)gCa>gGa	p.A28G	CDON_ENST00000263577.7_Missense_Mutation_p.A28G	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	28					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		AAAATAAGGTGCCAAGTCTAC	0.428000													12	14					0	0	0.003163	0	0
DNAH5	1767	broad.mit.edu	37	5	13794093	13794093	+	Silent	SNP	A	A	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:13794093A>G	ENST00000265104.4	-	48	8066	c.7962T>C	c.(7960-7962)gtT>gtC	p.V2654V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2654	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)					CATCAATAAAAACAGTCATCT	0.348000									Kartagener syndrome				20	29					0	0	0.010504	0	0
ZNF195	7748	broad.mit.edu	37	11	3381134	3381134	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:3381134G>A	ENST00000354599.6	-	4	992	c.888C>T	c.(886-888)agC>agT	p.S296S	ZNF195_ENST00000429541.2_Silent_p.S300S|ZNF195_ENST00000399602.4_Silent_p.S368S|ZNF195_ENST00000526601.1_Silent_p.S349S|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Silent_p.S300S|ZNF195_ENST00000005082.9_Silent_p.S345S	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		GATTAGAAAGGCTTGAGCAAG	0.423000													25	94					0	0	0.021523	0	0
CHD2	1106	broad.mit.edu	37	15	93492257	93492257	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr15:93492257C>T	ENST00000394196.4	+	13	2521	c.1453C>T	c.(1453-1455)Cga>Tga	p.R485*	CHD2_ENST00000536619.1_Nonsense_Mutation_p.R498*|CHD2_ENST00000420239.2_Nonsense_Mutation_p.R485*|CHD2_ENST00000557381.1_Nonsense_Mutation_p.R485*	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	485					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TCTGGAACTTCGAGATTATCA	0.413000													9	90					0	0	0.004482	0	0
ANKRD46	157567	broad.mit.edu	37	8	101541941	101541941	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr8:101541941G>A	ENST00000520311.1	-	3	924	c.121C>T	c.(121-123)Cgt>Tgt	p.R41C	ANKRD46_ENST00000520552.1_Missense_Mutation_p.R41C|ANKRD46_ENST00000519597.1_Missense_Mutation_p.R41C|ANKRD46_ENST00000519316.1_Missense_Mutation_p.R41C|ANKRD46_ENST00000335659.3_Missense_Mutation_p.R41C	NM_001270378.1	NP_001257307.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	41						integral to membrane				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			CTGCTGTCACGAATATTTGGG	0.493000													70	33					0	0	0.014410	0	0
SLC14A1	6563	broad.mit.edu	37	18	43310388	43310388	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr18:43310388C>T	ENST00000321925.4	+	3	335	c.103C>T	c.(103-105)Ctt>Ttt	p.L35F	SLC14A1_ENST00000415427.3_Missense_Mutation_p.L91F|SLC14A1_ENST00000436407.3_Missense_Mutation_p.L91F|SLC14A1_ENST00000402943.2_Intron|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000586142.1_Missense_Mutation_p.L35F|SLC14A1_ENST00000502059.2_Intron|SLC14A1_ENST00000535474.1_Intron|SLC14A1_ENST00000589700.1_Missense_Mutation_p.L35F|RP11-116O18.3_ENST00000589510.1_RNA	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	35						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CCCCAAAGCTCTTGGCTATGT	0.493000													14	41					0	0	0.004007	0	0
ABL1	25	broad.mit.edu	37	9	133755522	133755522	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:133755522C>T	ENST00000318560.5	+	9	1872	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	497					actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	AAACAATGTTCCAGGAATCCA	0.537000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								36	47					0	0	0.006999	0	0
FZD8	8325	broad.mit.edu	37	10	35929025	35929025	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr10:35929025C>T	ENST00000374694.1	-	1	1337	c.1333G>A	c.(1333-1335)Gcg>Acg	p.A445T		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	445					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						ACAAGCCACGCGGCCAGGTGG	0.652000													5	10					0	0	0.014758	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56702275	56702275	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:56702275C>T	ENST00000586855.2	-	4	983	c.670G>A	c.(670-672)Gat>Aat	p.D224N	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.D224N			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	224					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						TCCTTCAGATCCTTCTCCAAG	0.502000													55	62					0	0	0.014410	0	0
ELAVL2	1993	broad.mit.edu	37	9	23704974	23704974	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:23704974C>T	ENST00000397312.2	-	4	703	c.429G>A	c.(427-429)caG>caA	p.Q143Q	ELAVL2_ENST00000380117.1_Silent_p.Q143Q|ELAVL2_ENST00000223951.6_Silent_p.Q143Q|ELAVL2_ENST00000544538.1_Silent_p.Q143Q|ELAVL2_ENST00000380110.4_Silent_p.Q172Q	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	143	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GTGAAAAAAGCTGTTCCAACT	0.448000													40	41					0	0	0.010771	0	0
FLG2	388698	broad.mit.edu	37	1	152325496	152325496	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:152325496G>A	ENST00000388718.5	-	3	4838	c.4766C>T	c.(4765-4767)tCa>tTa	p.S1589L	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1589							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGTCTGTGTGAGCCCCCTGA	0.512000													153	160					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179605416	179605416	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:179605416C>T	ENST00000589042.1	-	48	12768	c.12544G>A	c.(12544-12546)Gag>Aag	p.E4182K	TTN_ENST00000460472.2_Missense_Mutation_p.E3819K|TTN_ENST00000342175.6_Missense_Mutation_p.E4011K|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E3944K|TTN_ENST00000591111.1_Missense_Mutation_p.E3865K|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3865							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)			AAGATTTTCTCGGTATCTGAT	0.413000													23	56					0	0	0.006320	0	0
CR2	1380	broad.mit.edu	37	1	207647034	207647034	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:207647034G>A	ENST00000367057.3	+	11	2312	c.2123G>A	c.(2122-2124)gGa>gAa	p.G708E	CR2_ENST00000458541.2_Intron|CR2_ENST00000367059.3_Intron|CR2_ENST00000367058.3_Intron	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	770	Sushi 11.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						ATGCCTTCAGGAAATTGGAGT	0.428000													29	132					0	0	0.019004	0	0
ABCD3	5825	broad.mit.edu	37	1	94953115	94953115	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:94953115T>G	ENST00000370214.4	+	11	939	c.915T>G	c.(913-915)aaT>aaG	p.N305K	ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000536817.1_Missense_Mutation_p.N232K|ABCD3_ENST00000394233.2_Intron|ABCD3_ENST00000454898.2_Missense_Mutation_p.N329K	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	305	ABC transmembrane type-1.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		ACCTACATAATTTCATTTTGT	0.299000													5	22					0	0	0.001984	0	0
PRODH2	58510	broad.mit.edu	37	19	36303154	36303154	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:36303154T>C	ENST00000301175.3	-	4	637	c.620A>G	c.(619-621)aAc>aGc	p.N207S		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	207					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)			AGCACCGAGGTTCCCCTCATA	0.687000													40	43					0	0	0.013114	0	0
SULT2B1	6820	broad.mit.edu	37	19	49102448	49102448	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:49102448C>T	ENST00000323090.4	+	6	1213	c.838C>T	c.(838-840)Cgt>Tgt	p.R280C	SULT2B1_ENST00000594274.1_3'UTR|SULT2B1_ENST00000201586.2_Missense_Mutation_p.R295C	NM_004605.2	NP_004596.2	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	295					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)		AGCCTTCGATCGTGCCTACCG	0.667000													4	24					0	0	0.009096	0	0
GALNT14	79623	broad.mit.edu	37	2	31167740	31167740	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:31167740G>A	ENST00000349752.5	-	8	1450	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S	GALNT14_ENST00000420311.2_Missense_Mutation_p.P236S|GALNT14_ENST00000324589.5_Missense_Mutation_p.P276S|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000356174.3_Missense_Mutation_p.P238S|GALNT14_ENST00000406653.1_Missense_Mutation_p.P251S	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	271						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)					GGCTCCGTGGGGTCCAGGCGC	0.587000													29	50					0	0	0.015359	0	0
MT1HL1	645745	broad.mit.edu	37	1	237167613	237167613	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:237167613C>G	ENST00000464121.2	-	1	105	c.60G>C	c.(58-60)aaG>aaC	p.K20N		NM_001276687.1	NP_001263616.1			metallothionein 1H-like 1																		ACTTTTTGCACTTGCAGGAGC	0.627000													10	51					0	0	0.020292	0	0
PRKD3	23683	broad.mit.edu	37	2	37543540	37543540	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:37543540C>T	ENST00000379066.1	-	2	890	c.128G>A	c.(127-129)gGa>gAa	p.G43E	PRKD3_ENST00000234179.2_Missense_Mutation_p.G43E			O94806	KPCD3_HUMAN	protein kinase D3	43					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)				ACTGAAGCTTCCATTAGAGAG	0.502000													22	63					0	0	0.016522	0	0
LEPREL1	55214	broad.mit.edu	37	3	189838082	189838082	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:189838082G>A	ENST00000319332.5	-	1	636	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	LEPREL1_ENST00000427335.2_Intron	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	147					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)	GGCACTCTGCGCTGGAAGTCG	0.667000													4	16					0	0	0.001168	0	0
CCDC137	339230	broad.mit.edu	37	17	79637484	79637484	+	Splice_Site	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:79637484G>A	ENST00000329214.8	+	3	900		c.e3+1			NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137											NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CAAAAAAAGCGTGAGTGGAGG	0.597000													16	8					0	0	0.004990	0	0
FCRL4	83417	broad.mit.edu	37	1	157548609	157548609	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:157548609G>A	ENST00000271532.1	-	9	1446	c.1311C>T	c.(1309-1311)tcC>tcT	p.S437S	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	437						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AGATGGAATGGGAGGACTCTC	0.537000													12	27					0	0	0.003163	0	0
BTBD11	121551	broad.mit.edu	37	12	108011178	108011178	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:108011178G>A	ENST00000280758.5	+	9	2724	c.2196G>A	c.(2194-2196)atG>atA	p.M732I	RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000420571.2_Intron|BTBD11_ENST00000490090.2_Missense_Mutation_p.M732I|BTBD11_ENST00000357167.4_Missense_Mutation_p.M269I	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	732						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGGGTGATATGAACTCTTTCA	0.517000													9	68					0	0	0.006214	0	0
KRT34	3885	broad.mit.edu	37	17	39535262	39535262	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:39535262C>T	ENST00000394001.1	-	6	1199	c.1169G>A	c.(1168-1170)cGg>cAg	p.R390Q		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	390	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				ACACTCCAGCCGGGCACGCAC	0.577000													23	172					0	0	0.012213	0	0
C1orf226	400793	broad.mit.edu	37	1	162353105	162353105	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:162353105G>A	ENST00000458626.2	+	2	623	c.451G>A	c.(451-453)Ggg>Agg	p.G151R	C1orf226_ENST00000426197.2_Missense_Mutation_p.G194R	NM_001085375.1	NP_001078844.1	A1L170	CA226_HUMAN	chromosome 1 open reading frame 226	151										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						TCTGGAGTATGGGACAGAGCC	0.607000													7	12					0	0	0.001984	0	0
HOXC11	3227	broad.mit.edu	37	12	54367468	54367468	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:54367468C>T	ENST00000546378.1	+	1	559	c.443C>T	c.(442-444)cCt>cTt	p.P148L	HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.P148L|HOTAIR_ENST00000455246.1_RNA			O43248	HXC11_HUMAN	homeobox C11	148					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						AGCGTCCTGCCTCAAGCCTTC	0.682000			T	NUP98	AML								41	96					0	0	0.010771	0	0
TTBK1	84630	broad.mit.edu	37	6	43225617	43225617	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr6:43225617G>T	ENST00000259750.4	+	10	1012	c.929G>T	c.(928-930)tGg>tTg	p.W310L	TTBK1_ENST00000304139.5_Missense_Mutation_p.W259L	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	310						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)			GCCTTTGACTGGGAGAAGGCA	0.592000													19	102					1.28384e-07	1.33057e-07	0.012319	1	0
IGFBP5	3488	broad.mit.edu	37	2	217543762	217543762	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:217543762C>T	ENST00000233813.4	-	2	1127	c.378G>A	c.(376-378)gaG>gaA	p.E126E		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	126					negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTCGGCCATCTCAGAGGTGG	0.632000													16	64					0	0	0.008871	0	0
CYP11A1	1583	broad.mit.edu	37	15	74636322	74636322	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr15:74636322C>T	ENST00000358632.4	-	4	858	c.163G>A	c.(163-165)Gtc>Atc	p.V55I	CYP11A1_ENST00000419019.2_Missense_Mutation_p.V55I|CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000268053.6_Missense_Mutation_p.V213I	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	213					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)	CCAAAAATGACGTTAGTGATG	0.592000													8	39					0	0	0.008291	0	0
VWA8	23078	broad.mit.edu	37	13	42393431	42393431	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr13:42393431C>T	ENST00000379310.3	-	15	1860	c.1792G>A	c.(1792-1794)Gaa>Aaa	p.E598K	VWA8_ENST00000281496.6_Missense_Mutation_p.E598K	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		GTTAAGAATTCTGGTCCCAGC	0.403000													7	29					0	0	0.001984	0	0
SLC16A6	9120	broad.mit.edu	37	17	66268882	66268882	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:66268882G>A	ENST00000327268.4	-	5	567	c.403C>T	c.(403-405)Cca>Tca	p.P135S	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.P135S	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	135						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	GTTACAGTTGGGAGAAAACTA	0.423000													28	53					0	0	0.007291	0	0
SS18	6760	broad.mit.edu	37	18	23615044	23615044	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr18:23615044G>A	ENST00000415083.2	-	9	1076	c.1021C>T	c.(1021-1023)Cca>Tca	p.P341S	SS18_ENST00000269137.7_Missense_Mutation_p.P310S|SS18_ENST00000545952.1_Missense_Mutation_p.P258S|SS18_ENST00000542743.1_Missense_Mutation_p.P258S|SS18_ENST00000542420.2_Missense_Mutation_p.P318S|SS18_ENST00000539849.1_Missense_Mutation_p.P259S	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	341	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					CCCTGTTGTGGAGGTGGTCCC	0.478000			T	"""SSX1,  SSX2"""	synovial sarcoma								25	56					0	0	0.007291	0	0
NPAS4	266743	broad.mit.edu	37	11	66191724	66191724	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:66191724C>T	ENST00000311034.2	+	7	1539	c.1363C>T	c.(1363-1365)Ctt>Ttt	p.L455F		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	455					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						ATCCAGCACTCTTCAAGAACA	0.577000													38	174					0	0	0.006999	0	0
EFCAB5	374786	broad.mit.edu	37	17	28408001	28408001	+	Splice_Site	SNP	T	T	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:28408001T>C	ENST00000394835.3	+	17	3618		c.e17+2		EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Splice_Site	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5								calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTCTATCAGGTAAGTCATAGA	0.398000													11	15					0	0	0.020292	0	0
TIGD3	220359	broad.mit.edu	37	11	65124274	65124274	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:65124274G>A	ENST00000309880.5	+	2	1202	c.995G>A	c.(994-996)gGg>gAg	p.G332E		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	332	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						GCCGAGGCCGGGGCAGGCATC	0.637000													9	13					0	0	0.004482	0	0
ZNF689	115509	broad.mit.edu	37	16	30616403	30616403	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:30616403C>T	ENST00000287461.3	-	3	1022	c.685G>A	c.(685-687)Ggg>Agg	p.G229R	ZNF689_ENST00000566673.1_5'UTR|RP11-146F11.5_ENST00000563540.1_RNA	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GGCTTCTCCCCTGTATGGATG	0.607000													28	60					0	0	0.007291	0	0
CAMK2A	815	broad.mit.edu	37	5	149652701	149652701	+	Silent	SNP	T	T	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:149652701T>C	ENST00000348628.6	-	2	749	c.84A>G	c.(82-84)cgA>cgG	p.R28R	CAMK2A_ENST00000398376.3_Silent_p.R28R	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	28	Protein kinase.				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCACACACCTTCGCACCACCG	0.562000													10	73					0	0	0.008291	0	0
ARAP2	116984	broad.mit.edu	37	4	36069567	36069567	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr4:36069567G>A	ENST00000303965.4	-	33	5566	c.5077C>T	c.(5077-5079)Ctt>Ttt	p.L1693F		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1693					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCTTTTGGAAGGGTTCTTGAC	0.348000													14	49					0	0	0.004007	0	0
HMCN1	83872	broad.mit.edu	37	1	186106752	186106752	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:186106752C>T	ENST00000271588.4	+	88	13934	c.13705C>T	c.(13705-13707)Caa>Taa	p.Q4569*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.Q4569*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4569	TSP type-1 1.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAGCCCTGCCAAGGTTCAGA	0.478000													27	22					0	0	0.009535	0	0
TXNDC15	79770	broad.mit.edu	37	5	134229287	134229287	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:134229287C>T	ENST00000358387.4	+	3	1322	c.697C>T	c.(697-699)Ctg>Ttg	p.L233L	TXNDC15_ENST00000546290.1_Silent_p.L210L	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	233	Thioredoxin.				cell redox homeostasis	integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTTAACTCTCTGCCCCGGGC	0.512000													25	110					0	0	0.018920	0	0
ZNF280A	129025	broad.mit.edu	37	22	22868569	22868569	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr22:22868569C>T	ENST00000302097.3	-	2	1638	c.1386G>A	c.(1384-1386)acG>acA	p.T462T		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CCTCCTTCAACGTCAAAAACT	0.418000													7	104					0	0	0.001984	0	0
ABO	28	broad.mit.edu	37	9	136131475	136131475	+	RNA	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:136131475C>T	ENST00000453660.2	-	0	653							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)		TCGCGGAACTCCATGTCCACG	0.642000													4	4					0	0	0.014758	0	0
DNAJA2	10294	broad.mit.edu	37	16	46993207	46993207	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:46993207G>A	ENST00000317089.5	-	7	1114	c.899C>T	c.(898-900)cCt>cTt	p.P300L		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	300					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				TACTTTGCCAGGGGGGTATTT	0.333000													30	32					0	0	0.015359	0	0
DSG4	147409	broad.mit.edu	37	18	28968393	28968393	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr18:28968393C>T	ENST00000359747.4	+	4	309	c.280C>T	c.(280-282)Cga>Tga	p.R94*	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Nonsense_Mutation_p.R94*	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	94	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGGGATTGATCGACCACCATA	0.408000													8	29					0	0	0.004482	0	0
GOT1	2805	broad.mit.edu	37	10	101163501	101163501	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr10:101163501G>A	ENST00000370508.5	-	6	800	c.773C>T	c.(772-774)tCc>tTc	p.S258F	GOT1_ENST00000543866.1_Missense_Mutation_p.S237F	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	258					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GAAGTTCTTGGAGAAGGACTG	0.557000													32	26					0	0	0.019004	0	0
COL14A1	7373	broad.mit.edu	37	8	121222048	121222048	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr8:121222048A>G	ENST00000297848.3	+	12	1645	c.1375A>G	c.(1375-1377)Atg>Gtg	p.M459V	COL14A1_ENST00000309791.4_Missense_Mutation_p.M459V|COL14A1_ENST00000247781.3_Missense_Mutation_p.M364V|COL14A1_ENST00000537875.1_Missense_Mutation_p.M459V|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	459	Fibronectin type-III 3.				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)			TGAGAACAGCATGCGAGTCAA	0.473000													117	39					0	0	0.014410	0	0
HNRNPM	4670	broad.mit.edu	37	19	8539077	8539077	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:8539077A>T	ENST00000348943.3	+	13	1184	c.952A>T	c.(952-954)Atg>Ttg	p.M318L	HNRNPM_ENST00000325495.4_Missense_Mutation_p.M357L	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	357					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TGGTGGTGGTATGGAAAACAT	0.463000													47	159					0	0	0.014410	0	0
NAB2	4665	broad.mit.edu	37	12	57485018	57485018	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:57485018G>A	ENST00000300131.3	+	2	572	c.194G>A	c.(193-195)gGa>gAa	p.G65E	NAB2_ENST00000342556.6_Missense_Mutation_p.G65E|NAB2_ENST00000357680.4_Missense_Mutation_p.G65E|NAB2_ENST00000554718.1_3'UTR	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	65	NCD1.				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						ATCCAGCAGGGAGGGGACGAC	0.642000													53	86					0	0	0.014410	0	0
OR7E24	26648	broad.mit.edu	37	19	9361872	9361872	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:9361872C>T	ENST00000456448.1	+	1	267	c.153C>T	c.(151-153)tcC>tcT	p.S51S		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S51*(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TGTTCCTGTCCATGTACCTGG	0.572000													47	79					0	0	0.014410	0	0
KLHL4	56062	broad.mit.edu	37	X	86880625	86880625	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chrX:86880625G>T	ENST00000373119.4	+	6	1298	c.1153G>T	c.(1153-1155)Gaa>Taa	p.E385*	KLHL4_ENST00000373114.4_Nonsense_Mutation_p.E385*	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	385						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						GGCAGATCTTGAAACCAGTTC	0.388000													15	7					1.15919e-05	1.18866e-05	0.008871	1	0
SYMPK	8189	broad.mit.edu	37	19	46355791	46355791	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:46355791G>A	ENST00000245934.7	-	4	418	c.174C>T	c.(172-174)gtC>gtT	p.V58V		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	58	Interaction with HSF1.				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TCAGCTCCTGGACCTGGAAGG	0.527000													10	80					0	0	0.013537	0	0
TRRAP	8295	broad.mit.edu	37	7	98524933	98524933	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:98524933C>T	ENST00000359863.4	+	23	3328	c.3119C>T	c.(3118-3120)cCc>cTc	p.P1040L	TRRAP_ENST00000446306.3_Missense_Mutation_p.P1039L|TRRAP_ENST00000355540.3_Missense_Mutation_p.P1040L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1040					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)			AGCGCCCTGCCCTTTGTCGCC	0.612000													7	68					0	0	0.003080	0	0
KIAA1456	57604	broad.mit.edu	37	8	12870199	12870199	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr8:12870199G>A	ENST00000524591.2	+	4	650	c.161G>A	c.(160-162)gGg>gAg	p.G54E	KIAA1456_ENST00000447063.2_Missense_Mutation_p.G54E	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	54							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						ATAGGTTGTGGGACTGGAAAA	0.403000													16	99					0	0	0.006122	0	0
TLN1	7094	broad.mit.edu	37	9	35703630	35703630	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:35703630G>A	ENST00000314888.9	-	48	6754	c.6401C>T	c.(6400-6402)gCc>gTc	p.A2134V	TLN1_ENST00000540444.1_Missense_Mutation_p.A2028V|TLN1_ENST00000464379.1_5'UTR	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2134					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATCTTCCACGGCTTTTACTGT	0.512000													11	83					0	0	0.016723	0	0
FAM83B	222584	broad.mit.edu	37	6	54805838	54805838	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr6:54805838G>T	ENST00000306858.7	+	5	2185	c.2069G>T	c.(2068-2070)aGg>aTg	p.R690M		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	690										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)					ACACTTACCAGGAATCGAGTT	0.383000													7	35					5.18039e-06	5.32337e-06	0.003080	1	0
SCUBE3	222663	broad.mit.edu	37	6	35211401	35211401	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr6:35211401G>A	ENST00000274938.7	+	16	1940	c.1940G>A	c.(1939-1941)gGc>gAc	p.G647D	SCUBE3_ENST00000394681.1_Missense_Mutation_p.G663D	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	647					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						TATTACCACGGCCAGACGGAG	0.667000													10	15					0	0	0.006214	0	0
DNAI1	27019	broad.mit.edu	37	9	34491552	34491552	+	Splice_Site	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:34491552G>A	ENST00000242317.4	+	8	852	c.681_splice	c.e8+1	p.Q227_splice	DNAI1_ENST00000488369.1_3'UTR	NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	227					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)		CAGCCAATCAGGTAAGACCCT	0.522000									Kartagener syndrome				30	27					0	0	0.017118	0	0
OR52R1	119695	broad.mit.edu	37	11	4825016	4825016	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:4825016G>A	ENST00000380382.1	-	1	831	c.832C>T	c.(832-834)Cgt>Tgt	p.R278C	OR52R1_ENST00000356069.2_Missense_Mutation_p.R199C|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	199					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)		CCATTCCCACGACTTATGCTT	0.493000													14	73					0	0	0.016723	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752746	62752746	+	RNA	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:62752746G>A	ENST00000331425.6	-	0	689					NR_003952.1																						ACATCTATATGGTTTCTCTCC	0.393000													4	64					0	0	0.001168	0	0
MSL2	55167	broad.mit.edu	37	3	135871300	135871300	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:135871300C>T	ENST00000309993.2	-	2	1155	c.423G>A	c.(421-423)gaG>gaA	p.E141E	MSL2_ENST00000434835.2_Silent_p.E67E	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	141					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TTTCTGTCTCCTCACAAAACA	0.388000													31	54					0	0	0.012213	0	0
SIRT4	23409	broad.mit.edu	37	12	120741433	120741433	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:120741433G>A	ENST00000202967.4	+	2	128	c.69G>A	c.(67-69)ccG>ccA	p.P23P		NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN	sirtuin 4	23					chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCAGCCAGCCGTGCTCGAAAG	0.498000													34	223					0	0	0.009718	0	0
ANKAR	150709	broad.mit.edu	37	2	190608180	190608180	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:190608180G>A	ENST00000520309.1	+	21	4078	c.3990G>A	c.(3988-3990)ctG>ctA	p.L1330L	ANKAR_ENST00000431575.2_Silent_p.L1259L|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000313581.4_Silent_p.L1330L	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1330						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)			AACAAACACTGGTGGGACTTC	0.353000													9	16					0	0	0.008291	0	0
NIPBL	25836	broad.mit.edu	37	5	37007540	37007540	+	Silent	SNP	A	A	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:37007540A>T	ENST00000282516.8	+	18	4702	c.4203A>T	c.(4201-4203)ctA>ctT	p.L1401L	NIPBL_ENST00000448238.2_Silent_p.L1401L	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1401					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)			CAGAATTGCTAGAGATACAAC	0.313000													5	12					0	0	0.001168	0	0
CACNB4	785	broad.mit.edu	37	2	152737314	152737314	+	Splice_Site	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:152737314C>T	ENST00000360283.6	-	3	545	c.288_splice	c.e3+1	p.E96_splice	CACNB4_ENST00000539935.1_Splice_Site_p.E130_splice|CACNB4_ENST00000427385.1_Splice_Site_p.E112_splice|CACNB4_ENST00000534999.1_Splice_Site_p.E96_splice|CACNB4_ENST00000201943.5_Splice_Site_p.E130_splice|CACNB4_ENST00000397327.2_Splice_Site_p.E83_splice			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	130					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	CTACATTTACCTCTTTAATAT	0.488000													6	11					0	0	0.001168	0	0
ZNF574	64763	broad.mit.edu	37	19	42584406	42584406	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:42584406C>T	ENST00000600245.1	+	2	2303	c.1648C>T	c.(1648-1650)Ccc>Tcc	p.P550S	ZNF574_ENST00000359044.4_Missense_Mutation_p.P550S|ZNF574_ENST00000222339.7_Missense_Mutation_p.P640S			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				AGGAGAGCGGCCCTACCGGTG	0.652000													26	107					0	0	0.021523	0	0
CC2D2B	387707	broad.mit.edu	37	10	97779486	97779486	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr10:97779486A>G	ENST00000344386.3	+	8	849	c.685A>G	c.(685-687)Aca>Gca	p.T229A	ENTPD1-AS1_ENST00000452728.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.T229A|ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000454638.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	229										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		ACAAAATAATACACCAATGGC	0.343000													61	71					0	0	0.014410	0	0
LOC101929006	101929006	broad.mit.edu	37	6	29231557	29231557	+	RNA	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr6:29231557G>A	ENST00000441381.1	+	0	79																											TCACATTAGTGAAAAGTTGAA	0.423000													57	146					0	0	0.014410	0	0
MUC17	140453	broad.mit.edu	37	7	100679132	100679132	+	Missense_Mutation	SNP	C	C	T	rs138483731	byFrequency	TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:100679132C>T	ENST00000306151.4	+	3	4499	c.4435C>T	c.(4435-4437)Cct>Tct	p.P1479S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1479	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)					TTCAACAACTCCTGTTGACTC	0.483000													37	577					0	0	0.009718	0	0
SCNN1A	6337	broad.mit.edu	37	12	6483883	6483883	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:6483883C>T	ENST00000358945.3	-	1	507	c.67G>A	c.(67-69)Ggg>Agg	p.G23R	SCNN1A_ENST00000543768.1_Missense_Mutation_p.G46R|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000228916.2_Missense_Mutation_p.G23R|SCNN1A_ENST00000396966.2_Missense_Mutation_p.G23R|SCNN1A_ENST00000360168.3_Missense_Mutation_p.G82R			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	23					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	p.G23R(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CGCTTGTTCCCCTTCATGAGC	0.662000													14	41					0	0	0.020292	0	0
TMEM150B	284417	broad.mit.edu	37	19	55828329	55828329	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:55828329C>T	ENST00000326652.4	-	7	512	c.330G>A	c.(328-330)aaG>aaA	p.K110K	TMEM150B_ENST00000438693.1_Silent_p.K110K			A6NC51	T150B_HUMAN	transmembrane protein 150B	110						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						GCCGCTGGTTCTTTTCCTGGG	0.597000													11	9					0	0	0.016723	0	0
HSPG2	3339	broad.mit.edu	37	1	22214554	22214554	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:22214554G>A	ENST00000374695.3	-	7	659	c.580C>T	c.(580-582)Cag>Tag	p.Q194*		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	194	SEA.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CTTGGGAACTGGGGCACTGCA	0.647000													15	24					0	0	0.004990	0	0
DENND1B	163486	broad.mit.edu	37	1	197704762	197704762	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:197704762C>T	ENST00000235453.4	-	3	283	c.6G>A	c.(4-6)gcG>gcA	p.A2A	DENND1B_ENST00000400967.2_Silent_p.A2A|DENND1B_ENST00000367396.3_Intron			Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	0						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						GTGGAGCTGCCGCCATGAAGG	0.488000													5	37					0	0	0.014758	0	0
PLA2R1	22925	broad.mit.edu	37	2	160885424	160885424	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:160885424C>T	ENST00000283243.7	-	5	1098	c.892G>A	c.(892-894)Gat>Aat	p.D298N	PLA2R1_ENST00000392771.1_Missense_Mutation_p.D298N	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	298	C-type lectin 1.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GCGTGTTCATCCAGCTGATTG	0.483000													4	33					0	0	0.003163	0	0
TENM2	57451	broad.mit.edu	37	5	167489158	167489158	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:167489158G>A	ENST00000519204.1	+	6	1158	c.1040G>A	c.(1039-1041)aGg>aAg	p.R347K	TENM2_ENST00000403607.2_Missense_Mutation_p.R301K|TENM2_ENST00000518659.1_Missense_Mutation_p.R468K|TENM2_ENST00000520394.1_Missense_Mutation_p.R236K|TENM2_ENST00000545108.1_Missense_Mutation_p.R468K					teneurin transmembrane protein 2																		GTGTTTTGGAGGTCACAAATT	0.488000													7	44					0	0	0.003080	0	0
OR6C76	390326	broad.mit.edu	37	12	55820527	55820527	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:55820527G>A	ENST00000328314.3	+	1	490	c.490G>A	c.(490-492)Gat>Aat	p.D164N		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTTACAGCTGGATTTCTGTGA	0.453000													52	60					0	0	0.014410	0	0
CXXC1	30827	broad.mit.edu	37	18	47812290	47812290	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr18:47812290C>G	ENST00000285106.6	-	5	1182	c.468G>C	c.(466-468)caG>caC	p.Q156H	CXXC1_ENST00000589940.1_Missense_Mutation_p.Q156H|CXXC1_ENST00000412036.2_Missense_Mutation_p.Q156H	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	156					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	p.Q156H(1)		autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						gctgctgctgctggtgatgct	0.557000													3	18					0	0	0.004672	0	0
PRKAA2	5563	broad.mit.edu	37	1	57157100	57157100	+	Silent	SNP	T	T	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:57157100T>C	ENST00000371244.4	+	3	336	c.270T>C	c.(268-270)ttT>ttC	p.F90F		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	90	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						CAGATTTTTTTATGGTAATGG	0.318000													8	36					0	0	0.013537	0	0
HYDIN	54768	broad.mit.edu	37	16	71209557	71209557	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:71209557C>T	ENST00000393567.2	-	5	619	c.469G>A	c.(469-471)Gga>Aga	p.G157R	HYDIN_ENST00000393550.2_Missense_Mutation_p.G157R|HYDIN_ENST00000448089.2_Missense_Mutation_p.G157R|HYDIN_ENST00000321489.5_Missense_Mutation_p.G157R|HYDIN_ENST00000448691.1_Missense_Mutation_p.G157R|HYDIN_ENST00000538248.1_Missense_Mutation_p.G184R|HYDIN_ENST00000288168.10_Missense_Mutation_p.G174R|HYDIN_ENST00000541601.1_Missense_Mutation_p.G174R	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	157										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)				GAAGGCACTCCAGGAGCCACT	0.448000													21	60					0	0	0.018920	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144912150	144912150	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:144912150G>A	ENST00000529945.1	-	11	3053	c.2614C>T	c.(2614-2616)Ctt>Ttt	p.L872F	PDE4DIP_ENST00000369351.3_Missense_Mutation_p.L709F|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.L709F|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L709F|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.L496F|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L846F|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.L846F|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L775F|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.L872F|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.L709F			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	709					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGTTTTCCAAGACAGCCAGTG	0.403000			T	PDGFRB	MPD								11	110					0	0	0.010729	0	0
PRRG4	79056	broad.mit.edu	37	11	32860464	32860464	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:32860464A>T	ENST00000257836.3	+	4	557	c.304A>T	c.(304-306)Acc>Tcc	p.T102S		NM_024081.5	NP_076986.1	Q9BZD6	TMG4_HUMAN	proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)	102						extracellular region|Golgi apparatus|integral to membrane	calcium ion binding			large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7	Breast(20;0.206)					TAAAGGACCAACCACAAAATC	0.294000													4	30					0	0	0.014758	0	0
ITPR1	3708	broad.mit.edu	37	3	4776914	4776914	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:4776914T>C	ENST00000354582.6	+	43	5725	c.5375T>C	c.(5374-5376)cTt>cCt	p.L1792P	ITPR1_ENST00000357086.4_Missense_Mutation_p.L1759P|ITPR1_ENST00000302640.8_Missense_Mutation_p.L1792P|ITPR1_ENST00000423119.2_Missense_Mutation_p.L1759P|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.L1792P|ITPR1_ENST00000456211.2_Missense_Mutation_p.L1744P			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1807					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)		CAGTGTCACCTTGACAAGGAG	0.502000													21	47					0	0	0.014323	0	0
STRA6	64220	broad.mit.edu	37	15	74474769	74474769	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr15:74474769C>T	ENST00000323940.5	-	15	1578	c.1333G>A	c.(1333-1335)Gga>Aga	p.G445R	STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000574278.1_Missense_Mutation_p.G460R|STRA6_ENST00000423167.2_Missense_Mutation_p.G436R|STRA6_ENST00000535552.1_Missense_Mutation_p.G482R|STRA6_ENST00000563965.1_Missense_Mutation_p.G484R|STRA6_ENST00000416286.3_Missense_Mutation_p.G437R|STRA6_ENST00000395105.4_Missense_Mutation_p.G445R|STRA6_ENST00000449139.2_Missense_Mutation_p.G445R	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	445					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GCCGTGGTTCCCAGGAAGAAG	0.612000													3	14					0	0	0.004672	0	0
DYRK4	8798	broad.mit.edu	37	12	4702206	4702206	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:4702206G>A	ENST00000540757.2	+	4	317	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	DYRK4_ENST00000010132.5_Missense_Mutation_p.E53K|DYRK4_ENST00000543431.1_Missense_Mutation_p.E53K	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	53						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			GTCTCCATATGAACAAAGTGA	0.483000													40	71					0	0	0.008740	0	0
KSR2	283455	broad.mit.edu	37	12	117996320	117996320	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:117996320G>A	ENST00000425217.1	-	8	1351	c.1297C>T	c.(1297-1299)Cac>Tac	p.H433Y	KSR2_ENST00000302438.5_Missense_Mutation_p.H159Y|KSR2_ENST00000339824.5_Missense_Mutation_p.H462Y|KSR2_ENST00000545002.1_5'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	462					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)					CCTCCTCGGTGGATGATCAGA	0.507000													23	41					0	0	0.008361	0	0
CD1E	913	broad.mit.edu	37	1	158324176	158324176	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:158324176C>T	ENST00000368160.3	+	2	68	c.68C>T	c.(67-69)gCt>gTt	p.A23V	CD1E_ENST00000368161.3_Missense_Mutation_p.A23V|CD1E_ENST00000434258.1_Missense_Mutation_p.A21V|CD1E_ENST00000368155.3_Missense_Mutation_p.A23V|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.A23V|CD1E_ENST00000368156.1_Missense_Mutation_p.A23V|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.A23V|CD1E_ENST00000368167.3_Missense_Mutation_p.A23V|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368154.1_Intron	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN	CD1e molecule	23					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GCTCCCCAGGCTCTACAATCC	0.507000													22	143					0	0	0.021523	0	0
MORC4	79710	broad.mit.edu	37	X	106205311	106205311	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chrX:106205311A>C	ENST00000355610.4	-	10	1461	c.1187T>G	c.(1186-1188)cTc>cGc	p.L396R	MORC4_ENST00000255495.7_Missense_Mutation_p.L396R|MORC4_ENST00000535534.1_Missense_Mutation_p.L144R	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	396							ATP binding|zinc ion binding			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						GTAAGCATTGAGCTTCTGGGC	0.363000													60	33					0	0	0.014410	0	0
CMSS1	84319	broad.mit.edu	37	3	99891217	99891217	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:99891217C>T	ENST00000421999.2	+	8	783	c.637C>T	c.(637-639)Ccg>Tcg	p.P213S	CMSS1_ENST00000489081.1_Missense_Mutation_p.P195S	NM_032359.3	NP_115735.2			cms1 ribosomal small subunit homolog (yeast)																		TGTAGGAACTCCGGGGAGAAT	0.478000													36	28					0	0	0.008740	0	0
KIF3C	3797	broad.mit.edu	37	2	26203833	26203833	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:26203833C>T	ENST00000264712.3	-	1	1533	c.954G>A	c.(952-954)cgG>cgA	p.R318R	KIF3C_ENST00000405914.1_Silent_p.R318R	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	318	Kinesin-motor.				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)					GCTTGGAGTCCCGGTAGGGAA	0.592000													13	42					0	0	0.016723	0	0
ABCG8	64241	broad.mit.edu	37	2	44102553	44102553	+	Splice_Site	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:44102553G>A	ENST00000272286.2	+	11	1846		c.e11+1			NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8						cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTGTGGACAGGTAAGGCCTGC	0.547000													17	31					0	0	0.007413	0	0
POLR3B	55703	broad.mit.edu	37	12	106824069	106824069	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:106824069A>G	ENST00000228347.4	+	14	1504	c.1282A>G	c.(1282-1284)Aga>Gga	p.R428G	POLR3B_ENST00000539066.1_Missense_Mutation_p.R370G	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	428					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GTCTTTAAAGAGATTTAAAAT	0.433000													30	149					0	0	0.013726	0	0
TAOK2	9344	broad.mit.edu	37	16	29998700	29998700	+	Missense_Mutation	SNP	G	G	A	rs146662869		TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:29998700G>A	ENST00000308893.4	+	16	4150	c.3107G>A	c.(3106-3108)cGa>cAa	p.R1036Q	TAOK2_ENST00000416441.2_Missense_Mutation_p.R863Q|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Missense_Mutation_p.R923Q	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1036	Leu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						AGCTGGCGCCGAGGCCTCATG	0.657000													10	16					0	0	0.013537	0	0
NCOA1	8648	broad.mit.edu	37	2	24974859	24974859	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:24974859C>T	ENST00000405141.1	+	21	4426	c.3715C>T	c.(3715-3717)Ccc>Tcc	p.P1239S	NCOA1_ENST00000348332.3_Missense_Mutation_p.P1239S|NCOA1_ENST00000288599.5_Missense_Mutation_p.P1239S|NCOA1_ENST00000538539.1_Missense_Mutation_p.P1239S|NCOA1_ENST00000407230.1_Missense_Mutation_p.P1088S|NCOA1_ENST00000406961.1_Missense_Mutation_p.P1239S|NCOA1_ENST00000395856.3_Missense_Mutation_p.P1239S			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1239									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAATGGTTCCCCAAGGTGA	0.418000			T	PAX3	alveolar rhadomyosarcoma								39	58					0	0	0.014410	0	0
AP5Z1	9907	broad.mit.edu	37	7	4820877	4820877	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:4820877G>A	ENST00000348624.4	+	2	207	c.113G>A	c.(112-114)gGg>gAg	p.G38E	AP5Z1_ENST00000401897.1_Missense_Mutation_p.G38E	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	38					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										GAGGACTTGGGGCCGGACACC	0.592000													3	55					0	0	0.009096	0	0
PALM	5064	broad.mit.edu	37	19	746736	746736	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:746736G>A	ENST00000264560.7	+	8	1148	c.954G>A	c.(952-954)gcG>gcA	p.A318A	PALM_ENST00000606643.1_3'UTR|PALM_ENST00000338448.5_Silent_p.A362A	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN	paralemmin	362					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|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)|Lung(535;0.201)		AGAATCAGGCGGGGCCCGAGG	0.672000													4	5					0	0	0.001168	0	0
ATP7B	540	broad.mit.edu	37	13	52549006	52549006	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr13:52549006C>A	ENST00000242839.4	-	2	506	c.350G>T	c.(349-351)gGg>gTg	p.G117V	ATP7B_ENST00000400370.3_Missense_Mutation_p.G117V|ATP7B_ENST00000448424.2_Missense_Mutation_p.G117V|ATP7B_ENST00000542656.1_Missense_Mutation_p.G85V|ATP7B_ENST00000400366.3_Missense_Mutation_p.G117V|ATP7B_ENST00000418097.2_Missense_Mutation_p.G117V|ATP7B_ENST00000344297.5_Missense_Mutation_p.G117V	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	117	HMA 1.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GCCCATGTCCCCAATTTGATG	0.562000									Wilson disease				17	84					1.33834e-09	1.39602e-09	0.007413	1	0
MAPK1	5594	broad.mit.edu	37	22	22160206	22160206	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr22:22160206G>A	ENST00000215832.6	-	3	613	c.425C>T	c.(424-426)tCa>tTa	p.S142L	MAPK1_ENST00000544786.1_Missense_Mutation_p.S142L|MAPK1_ENST00000398822.3_Missense_Mutation_p.S142L	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	142	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|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|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	AACGTTAGCTGAATGGATATA	0.428000													12	162					0	0	0.013537	0	0
CHRND	1144	broad.mit.edu	37	2	233399984	233399984	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:233399984C>T	ENST00000258385.3	+	12	1548	c.1516C>T	c.(1516-1518)Ccc>Tcc	p.P506S	CHRND_ENST00000457943.2_Missense_Mutation_p.P312S|CHRND_ENST00000543200.1_Missense_Mutation_p.P491S	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	506					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		TCCTGGGGACCCCTACTCCTA	0.602000													27	78					0	0	0.017118	0	0
EPDR1	54749	broad.mit.edu	37	7	37988586	37988586	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:37988586C>T	ENST00000199448.4	+	2	793	c.414C>T	c.(412-414)tcC>tcT	p.S138S	EPDR1_ENST00000476620.1_Silent_p.S36S|EPDR1_ENST00000425345.1_Silent_p.S77S|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000559325.1_Silent_p.S258S	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	138					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						ACCAGTACTCCATCGGGGGGC	0.507000													16	57					0	0	0.021022	0	0
MYH11	4629	broad.mit.edu	37	16	15818207	15818207	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:15818207C>T	ENST00000338282.6	-	31	4282	c.4176G>A	c.(4174-4176)gaG>gaA	p.E1392E	NDE1_ENST00000396355.1_3'UTR|MYH11_ENST00000452625.2_Silent_p.E1399E|NDE1_ENST00000342673.5_3'UTR|NDE1_ENST00000571896.1_3'UTR|MYH11_ENST00000300036.5_Silent_p.E1392E|MYH11_ENST00000576790.1_Silent_p.E1392E|NDE1_ENST00000396354.1_3'UTR|MYH11_ENST00000396324.3_Silent_p.E1399E	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1392					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCTTCTTCCCCTCTTCCAGAG	0.552000			T	CBFB	AML								16	37					0	0	0.004990	0	0
ABCA2	20	broad.mit.edu	37	9	139907007	139907007	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:139907007G>A	ENST00000265662.5	-	32	5264	c.5117C>T	c.(5116-5118)tCc>tTc	p.S1706F	ABCA2_ENST00000341511.6_Missense_Mutation_p.S1706F|ABCA2_ENST00000371605.3_Missense_Mutation_p.S1705F			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1705					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)		GGCTGGGATGGACTTCAGGAC	0.677000													34	32					0	0	0.007835	0	0
SAMD9	54809	broad.mit.edu	37	7	92733753	92733753	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:92733753C>T	ENST00000379958.2	-	3	1927	c.1658G>A	c.(1657-1659)aGa>aAa	p.R553K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	553						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)			GAGGGGATCTCTTGGGTCATC	0.408000													16	145					0	0	0.006122	0	0
ANO1	55107	broad.mit.edu	37	11	70026114	70026114	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:70026114C>T	ENST00000355303.5	+	23	2660	c.2355C>T	c.(2353-2355)atC>atT	p.I785I	ANO1_ENST00000538023.1_Silent_p.I785I|ANO1_ENST00000530676.1_Silent_p.I639I|ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000531349.1_Silent_p.I494I|ANO1_ENST00000398543.2_Silent_p.I639I	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	785					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CCCCAGGAATCTGGTACAATA	0.522000													20	46					0	0	0.008871	0	0
RPTOR	57521	broad.mit.edu	37	17	78796099	78796099	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:78796099G>A	ENST00000306801.3	+	8	1351	c.989G>A	c.(988-990)cGg>cAg	p.R330Q	RPTOR_ENST00000570891.1_Missense_Mutation_p.R330Q|RPTOR_ENST00000544334.2_Missense_Mutation_p.R330Q|RPTOR_ENST00000537330.1_Missense_Mutation_p.R145Q|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	330					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	p.R330Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GTGCTCCCCCGGGGTGAGGCG	0.647000													34	166					0	0	0.019004	0	0
PLD2	5338	broad.mit.edu	37	17	4720460	4720460	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:4720460A>T	ENST00000263088.6	+	17	1852	c.1721A>T	c.(1720-1722)aAg>aTg	p.K574M	PLD2_ENST00000572940.1_Missense_Mutation_p.K574M	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	574	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GCCAAGTACAAGACTCCCACA	0.612000													17	247					0	0	0.010504	0	0
NKTR	4820	broad.mit.edu	37	3	42680819	42680819	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:42680819C>T	ENST00000232978.8	+	13	3811	c.3623C>T	c.(3622-3624)aCc>aTc	p.T1208I	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1208					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GGAGAAAGTACCGGGAAGAAG	0.517000													16	41					0	0	0.004007	0	0
AKT2	208	broad.mit.edu	37	19	40741909	40741909	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:40741909G>A	ENST00000392038.2	-	11	1361	c.1063C>T	c.(1063-1065)Cac>Tac	p.H355Y	AKT2_ENST00000424901.1_Missense_Mutation_p.H355Y|AKT2_ENST00000311278.6_Missense_Mutation_p.H312Y|AKT2_ENST00000579047.1_Missense_Mutation_p.H293Y	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	355	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			AGGCGCTCGTGGTCCTGGTTG	0.627000			A		"""ovarian, pancreatic """								45	41					0	0	0.014410	0	0
TEX11	56159	broad.mit.edu	37	X	69825276	69825276	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chrX:69825276C>T	ENST00000395889.2	-	25	2242	c.2087G>A	c.(2086-2088)aGa>aAa	p.R696K	TEX11_ENST00000374333.2_Missense_Mutation_p.R681K|TEX11_ENST00000374320.2_Missense_Mutation_p.R371K|TEX11_ENST00000344304.3_Missense_Mutation_p.R696K	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	696							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)					TGAAGCTTTTCTCCCTTGCTC	0.398000													20	11					0	0	0.014323	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	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				86	40					0	0	0.014410	0	0
TEX13A	56157	broad.mit.edu	37	X	104463824	104463824	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chrX:104463824C>T	ENST00000372578.3	-	3	1165	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	TEX13A_ENST00000413579.1_Missense_Mutation_p.R351K|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.E352K|IL1RAPL2_ENST00000372582.1_Intron	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	0						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						ATGGTCTATTCTGTGGGGCCC	0.582000													36	21					0	0	0.005524	0	0
TAF4	6874	broad.mit.edu	37	20	60585143	60585143	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr20:60585143G>T	ENST00000252996.3	-	4	1719	c.1720C>A	c.(1720-1722)Cgc>Agc	p.R574S		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	574					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GGTACCGTGCGCTGAGGAGTC	0.612000													11	59					1.5842e-08	1.64539e-08	0.016723	1	0
MYH7	4625	broad.mit.edu	37	14	23883309	23883309	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr14:23883309C>T	ENST00000355349.3	-	38	5724	c.5562G>A	c.(5560-5562)acG>acA	p.T1854T		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1854			T -> M (in CMH1).		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)		TGTCCTCCTCCGTCTGGGGGC	0.602000													26	22					0	0	0.004656	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651347	1651347	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:1651347G>C	ENST00000399676.2	+	1	315	c.277G>C	c.(277-279)Ggg>Cgg	p.G93R		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	93	8 X 4 AA repeats of C-C-X-P.					keratin filament		p.G93W(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGGCTCTTGCGGGGGCTCCAA	0.662000													73	138					0	0	0.014410	0	0
PLB1	151056	broad.mit.edu	37	2	28805000	28805000	+	Splice_Site	SNP	G	G	A	rs146417418		TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:28805000G>A	ENST00000327757.5	+	24	1676	c.1632_splice	c.e24+1	p.E544_splice	PLB1_ENST00000422425.2_Intron|PLB1_ENST00000329020.6_Splice_Site_p.E232_splice	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	544	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCCATGCTGAGGTACGGAGGC	0.537000													24	34					0	0	0.005443	0	0
LTA	4049	broad.mit.edu	37	6	31541186	31541186	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr6:31541186C>A	ENST00000454783.1	+	4	592	c.334C>A	c.(334-336)Cag>Aag	p.Q112K	LTA_ENST00000418386.2_Missense_Mutation_p.Q112K	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	112					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CGTCTACTCCCAGGTGGTCTT	0.577000													13	59					2.32078e-09	2.41561e-09	0.003163	1	0
MAGEB1	4112	broad.mit.edu	37	X	30269299	30269299	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chrX:30269299A>T	ENST00000378981.3	+	4	1010	c.689A>T	c.(688-690)tAt>tTt	p.Y230F	MAGEB1_ENST00000397548.2_Missense_Mutation_p.Y230F|MAGEB1_ENST00000397550.1_Missense_Mutation_p.Y230F	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	230	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TTGGGAGCCTATGATGGAGAG	0.488000													8	8					0	0	0.004482	0	0
PRR23B	389151	broad.mit.edu	37	3	138739067	138739067	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:138739067G>A	ENST00000329447.5	-	1	701	c.437C>T	c.(436-438)cCa>cTa	p.P146L	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	146										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						GGCGATCTCTGGGACAGATGC	0.667000													15	55					0	0	0.004990	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251875	25251875	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:25251875C>T	ENST00000328086.7	-	7	2969	c.2166G>A	c.(2164-2166)caG>caA	p.Q722Q		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	722					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCGGCTTTCCCTGTCTAATTC	0.453000													17	40					0	0	0.007413	0	0
TNXB	7148	broad.mit.edu	37	6	32017243	32017243	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr6:32017243G>A	ENST00000375244.3	-	28	9762	c.9561C>T	c.(9559-9561)acC>acT	p.T3187T	TNXB_ENST00000375247.2_Silent_p.T3185T			P22105	TENX_HUMAN	tenascin XB	3232					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						CCTGGGGGACGGTCCAGGAGA	0.682000													8	66					0	0	0.013537	0	0
MUC16	94025	broad.mit.edu	37	19	9072618	9072618	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:9072618G>A	ENST00000397910.4	-	3	15031	c.14828C>T	c.(14827-14829)cCt>cTt	p.P4943L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4945	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						GGACTGATCAGGGCCAGGGAA	0.498000													40	66					0	0	0.014410	0	0
LCK	3932	broad.mit.edu	37	1	32745282	32745282	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:32745282G>A	ENST00000333070.4	+	10	1165	c.1065G>A	c.(1063-1065)gtG>gtA	p.V355V	LCK_ENST00000373564.3_Silent_p.V332V|LCK_ENST00000336890.5_Silent_p.V325V	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	325	Protein kinase.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	GGAGTCTAGTGGATTTTCTCA	0.572000			T	TRB@	T-ALL								40	194					0	0	0.014410	0	0
SH3BP4	23677	broad.mit.edu	37	2	235950486	235950486	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:235950486C>T	ENST00000409212.1	+	4	1580	c.1073C>T	c.(1072-1074)gCc>gTc	p.A358V	SH3BP4_ENST00000344528.4_Missense_Mutation_p.A358V|SH3BP4_ENST00000392011.2_Missense_Mutation_p.A358V			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	358					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TCCATGAAAGCCCTGCTGGAC	0.627000													13	36					0	0	0.016723	0	0
AKR1C3	8644	broad.mit.edu	37	10	5139671	5139671	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr10:5139671G>A	ENST00000380554.3	+	3	950	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	AKR1C3_ENST00000439082.2_5'UTR|AKR1C3_ENST00000470862.2_3'UTR|AKR1C3_ENST00000605149.1_Missense_Mutation_p.E77K	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	100					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	ACCAGCCTTGGAAAACTCACT	0.398000													37	60					0	0	0.010771	0	0
IL1RN	3557	broad.mit.edu	37	2	113890416	113890416	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:113890416G>A	ENST00000361779.3	+	6	745	c.400G>A	c.(400-402)Gtc>Atc	p.V134I	IL1RN_ENST00000409052.1_Missense_Mutation_p.V134I|IL1RN_ENST00000354115.2_Missense_Mutation_p.V150I|IL1RN_ENST00000259206.5_Missense_Mutation_p.V171I|IL1RN_ENST00000409930.3_Missense_Mutation_p.V168I	NM_173843.2	NP_776215.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	168					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)	AGGCGTCATGGTCACCAAATT	0.592000									Lichen Sclerosis et Atrophicus, Familial Clustering of				35	97					0	0	0.007835	0	0
CCDC141	285025	broad.mit.edu	37	2	179730554	179730554	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:179730554C>T	ENST00000420890.2	-	17	2781	c.2664G>A	c.(2662-2664)gaG>gaA	p.E888E	CCDC141_ENST00000295723.5_Silent_p.E313E	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	313							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)			TCCGTCCATACTCCTCAGCTT	0.527000													98	271					0	0	0.014410	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361118	70361118	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr4:70361118G>A	ENST00000305107.6	-	1	508	c.462C>T	c.(460-462)ttC>ttT	p.F154F	UGT2B4_ENST00000381096.3_Silent_p.F18F|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Silent_p.F154F	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	154					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CACCAAAGGGGAAAACAGCAT	0.408000													9	23					0	0	0.008291	0	0
LIX1	167410	broad.mit.edu	37	5	96460208	96460208	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:96460208C>T	ENST00000274382.4	-	2	503	c.208G>A	c.(208-210)Gtg>Atg	p.V70M	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	70										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)		GGGAGGGTCACGTAACTCACA	0.468000													13	45					0	0	0.013537	0	0
DNAH5	1767	broad.mit.edu	37	5	13911564	13911564	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:13911564G>A	ENST00000265104.4	-	12	1679	c.1575C>T	c.(1573-1575)ttC>ttT	p.F525F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	525	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)					GCTGGTCTAGGAAATTGTATT	0.308000									Kartagener syndrome				12	60					0	0	0.020292	0	0
TEKT3	64518	broad.mit.edu	37	17	15234658	15234658	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:15234658G>A	ENST00000395930.1	-	3	431	c.245C>T	c.(244-246)cCc>cTc	p.P82L	TEKT3_ENST00000338696.2_Missense_Mutation_p.P82L	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	82					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		GGAAACAAAGGGAAGCATGGT	0.498000													78	56					0	0	0.014410	0	0
SLC2A12	154091	broad.mit.edu	37	6	134350520	134350520	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr6:134350520G>A	ENST00000275230.5	-	2	598	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	148						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		AGTGGCAATGGAAGAGAGGGA	0.478000													17	29					0	0	0.006122	0	0
LILRP2	79166	broad.mit.edu	37	19	55222251	55222251	+	RNA	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:55222251G>A	ENST00000413439.1	+	0	1718																											CTGCCCCCAGGAGAGCTCAGG	0.632000													5	18					0	0	0.014758	0	0
SALL3	27164	broad.mit.edu	37	18	76755153	76755153	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr18:76755153C>T	ENST00000536229.3	+	2	3256	c.2547C>T	c.(2545-2547)tcC>tcT	p.S849S	SALL3_ENST00000537592.2_Silent_p.S1054S|SALL3_ENST00000575389.2_Silent_p.S982S			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1054					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)		GCCTGATCTCCAGCGCCGCAC	0.592000													13	60					0	0	0.003163	0	0
IL1F10	84639	broad.mit.edu	37	2	113832941	113832941	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:113832941G>A	ENST00000393197.2	+	4	880	c.459G>A	c.(457-459)taG>taA	p.*153*	IL1F10_ENST00000341010.2_Silent_p.*153*|IL1F10_ENST00000337569.3_Silent_p.*153*	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	0						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						AGAGCTGGTAGGGAGACAGGA	0.547000													25	33					0	0	0.021523	0	0
HIVEP3	59269	broad.mit.edu	37	1	41978494	41978494	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:41978494G>A	ENST00000372584.1	-	7	7412	c.6398C>T	c.(6397-6399)tCc>tTc	p.S2133F	HIVEP3_ENST00000247584.5_Missense_Mutation_p.S2133F|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000372583.1_Missense_Mutation_p.S2133F|HIVEP3_ENST00000429157.2_Missense_Mutation_p.S2133F	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2133	6 X 4 AA tandem repeats of S-P-X-[RK].				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)				CACCCACGGGGAGGCGCAGGT	0.657000													3	2					0	0	0.004672	0	0
LCT	3938	broad.mit.edu	37	2	136567182	136567182	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:136567182G>A	ENST00000264162.2	-	8	2745	c.2735C>T	c.(2734-2736)tCc>tTc	p.S912F		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	912	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)		AGCGGAAGAGGACACGCCCCA	0.517000													24	59					0	0	0.021523	0	0
RNF214	257160	broad.mit.edu	37	11	117153873	117153873	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:117153873G>A	ENST00000530849.1	+	12	1433	c.1423G>A	c.(1423-1425)Gtc>Atc	p.V475I	RNF214_ENST00000524917.1_3'UTR|RNF214_ENST00000531287.1_Missense_Mutation_p.V510I|RNF214_ENST00000300650.4_Missense_Mutation_p.V665I|RNF214_ENST00000531452.1_Missense_Mutation_p.V665I			Q8ND24	RN214_HUMAN	ring finger protein 214	665	Pro-rich.						zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	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;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		CCAGAAACTCGTCCAGCCCAG	0.488000													8	54					0	0	0.006214	0	0
HMSD	284293	broad.mit.edu	37	18	61621654	61621654	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr18:61621654A>C	ENST00000408945.3	+	3	287	c.85A>C	c.(85-87)Agt>Cgt	p.S29R	HMSD_ENST00000481726.1_3'UTR	NM_001123366.1	NP_001116838.1	A8MTL9	HMSD_HUMAN	histocompatibility (minor) serpin domain containing	29						extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(2)|lung(2)|stomach(1)	6						ACTTTGTTTTAGTAAAATCGG	0.338000													16	44					0	0	0.008871	0	0
SATB2	23314	broad.mit.edu	37	2	200213782	200213782	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:200213782G>A	ENST00000443023.1	-	6	2103	c.638C>T	c.(637-639)cCt>cTt	p.P213L	SATB2_ENST00000417098.1_Missense_Mutation_p.P272L|SATB2_ENST00000457245.1_Missense_Mutation_p.P272L|SATB2_ENST00000428695.1_Missense_Mutation_p.P154L|SATB2_ENST00000260926.5_Missense_Mutation_p.P272L			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	272						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTGGCTGTGAGGAGACTGTTC	0.498000													27	71					0	0	0.007291	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809066	18809066	+	Silent	SNP	C	C	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:18809066C>A	ENST00000400664.1	+	1	1643	c.1591C>A	c.(1591-1593)Cgg>Agg	p.R531R		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	531						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCGTGTCCCGGGGCTGTGC	0.657000													17	60					1.56452e-12	1.64615e-12	0.007413	1	0
FAT4	79633	broad.mit.edu	37	4	126373645	126373645	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr4:126373645C>T	ENST00000394329.3	+	9	11487	c.11474C>T	c.(11473-11475)tCc>tTc	p.S3825F	FAT4_ENST00000335110.5_Missense_Mutation_p.S2123F	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3825	EGF-like 1.				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						GCTGTGAGCTCCGTATTAAAA	0.512000													14	24					0	0	0.004990	0	0
SNX21	90203	broad.mit.edu	37	20	44469644	44469644	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr20:44469644C>T	ENST00000372542.1	+	3	1099	c.787C>T	c.(787-789)Cag>Tag	p.Q263*	SNX21_ENST00000462307.1_3'UTR|SNX21_ENST00000491381.1_Nonsense_Mutation_p.Q272*|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Intron			Q969T3	SNX21_HUMAN	sorting nexin family member 21	272					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				GCTGCAAGCCCAGCTGGGCAC	0.697000													4	8					0	0	0.009096	0	0
SNX21	90203	broad.mit.edu	37	20	44469643	44469643	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr20:44469643C>T	ENST00000372542.1	+	3	1098	c.786C>T	c.(784-786)gcC>gcT	p.A262A	SNX21_ENST00000462307.1_3'UTR|SNX21_ENST00000491381.1_Silent_p.A271A|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Intron			Q969T3	SNX21_HUMAN	sorting nexin family member 21	271					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				AGCTGCAAGCCCAGCTGGGCA	0.692000													4	8					0	0	0.009096	0	0
UXS1	80146	broad.mit.edu	37	2	106713260	106713260	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:106713260G>A	ENST00000283148.7	-	14	1157	c.1060C>T	c.(1060-1062)Cag>Tag	p.Q354*	UXS1_ENST00000540130.1_Nonsense_Mutation_p.Q292*|UXS1_ENST00000409501.3_Nonsense_Mutation_p.Q349*|UXS1_ENST00000409032.1_Nonsense_Mutation_p.Q181*	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	349					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						GAGAGAAACTGAATTTCACTT	0.463000													4	6					0	0	0.014758	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													3	60					0	0	0.014758	0	0
ACRV1	56	broad.mit.edu	37	11	125547954	125547954	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:125547954C>T	ENST00000533904.1	-	2	633	c.291G>A	c.(289-291)gaG>gaA	p.E97E	ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000445562.1_Intron|ACRV1_ENST00000348856.3_Silent_p.E42E|ACRV1_ENST00000453509.1_Intron|ACRV1_ENST00000433875.1_Silent_p.E97E|ACRV1_ENST00000426183.1_Intron|ACRV1_ENST00000257382.2_Silent_p.E42E|ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000345274.1_Intron			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	97	4 X 4 AA repeats of S-G-E-H.				multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		TCGCAGCGGGCTCACCTGAAG	0.532000													6	43					0	0	0.001168	0	0
CACNA1C	775	broad.mit.edu	37	12	2714268	2714268	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:2714268G>A	ENST00000399655.1	+	23	3247	c.2982G>A	c.(2980-2982)gtG>gtA	p.V994V	CACNA1C_ENST00000344100.3_Silent_p.V994V|CACNA1C_ENST00000347598.4_Silent_p.V1014V|CACNA1C_ENST00000399597.1_Silent_p.V994V|CACNA1C_ENST00000399621.1_Silent_p.V994V|CACNA1C_ENST00000399644.1_Silent_p.V994V|CACNA1C_ENST00000406454.3_Silent_p.V994V|CACNA1C_ENST00000399617.1_Silent_p.V994V|CACNA1C_ENST00000399641.1_Silent_p.V994V|CACNA1C_ENST00000399637.1_Silent_p.V994V|CACNA1C_ENST00000399649.1_Silent_p.V994V|CACNA1C_ENST00000327702.7_Silent_p.V994V|CACNA1C_ENST00000480911.1_Silent_p.V994V|CACNA1C_ENST00000399606.1_Silent_p.V1014V|CACNA1C_ENST00000402845.3_Silent_p.V994V|CACNA1C_ENST00000399595.1_Silent_p.V994V|CACNA1C_ENST00000335762.5_Silent_p.V1019V|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000399638.1_Silent_p.V994V|CACNA1C_ENST00000399629.1_Silent_p.V994V|CACNA1C_ENST00000399603.1_Silent_p.V994V|CACNA1C_ENST00000399591.1_Silent_p.V994V|CACNA1C_ENST00000399634.1_Silent_p.V994V|CACNA1C_ENST00000399601.1_Silent_p.V994V	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	1014					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)	TCAATGTCGTGAAGATCTTGC	0.557000													18	45					0	0	0.018920	0	0
MLLT3	4300	broad.mit.edu	37	9	20414298	20414298	+	Silent	SNP	A	A	G	rs143254940	byFrequency	TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:20414298A>G	ENST00000380338.4	-	5	832	c.546T>C	c.(544-546)agT>agC	p.S182S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S179S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	182	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)		tgctgctgctactgctgctgc	0.522000			T	MLL	ALL								6	39					0	0	0.003080	0	0
NASP	4678	broad.mit.edu	37	1	46073706	46073706	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:46073706C>T	ENST00000350030.3	+	6	1210	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S	NASP_ENST00000402363.3_Missense_Mutation_p.P377S|NASP_ENST00000537798.1_Missense_Mutation_p.P311S|NASP_ENST00000372052.4_Intron|NASP_ENST00000351223.3_Intron	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	375	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					TCCAGTTCTCCCTAAGGATGG	0.502000													19	75					0	0	0.018920	0	0
SNRNP200	23020	broad.mit.edu	37	2	96944683	96944683	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:96944683G>A	ENST00000323853.5	-	37	5264	c.5187C>T	c.(5185-5187)gaC>gaT	p.D1729D	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1729	Helicase C-terminal 2.					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						GCATACAGTGGTCCAGGTGAG	0.463000													36	67					0	0	0.011902	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44505977	44505977	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr20:44505977C>T	ENST00000255152.2	+	2	989	c.780C>T	c.(778-780)acC>acT	p.T260T	ZSWIM3_ENST00000454862.2_Silent_p.T254T	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	260							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				AGACAGTCACCTCTGTGGCCA	0.527000													19	69					0	0	0.014323	0	0
SHPK	23729	broad.mit.edu	37	17	3518752	3518752	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:3518752C>T	ENST00000225519.3	-	6	1005	c.903G>A	c.(901-903)acG>acA	p.T301T		NM_013276.2	NP_037408.2	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	301					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		CGACTGGGGCCGTAGGGTCTG	0.607000													24	20					0	0	0.004656	0	0
OR6C74	254783	broad.mit.edu	37	12	55641111	55641111	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:55641111G>A	ENST00000343870.4	+	1	130	c.40G>A	c.(40-42)Gga>Aga	p.G14R		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TATTCTTCTTGGACTGACAGA	0.338000													35	55					0	0	0.008740	0	0
OR4P4	81300	broad.mit.edu	37	11	55406281	55406281	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:55406281G>A	ENST00000314612.2	+	1	448	c.448G>A	c.(448-450)Gga>Aga	p.G150R		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TTGTACTGGGGGATTTATACA	0.428000													7	45					0	0	0.001984	0	0
UNC13C	440279	broad.mit.edu	37	15	54307936	54307936	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr15:54307936G>A	ENST00000545554.1	+	1	2836	c.2836G>A	c.(2836-2838)Gaa>Aaa	p.E946K	UNC13C_ENST00000537900.1_Missense_Mutation_p.E946K|UNC13C_ENST00000260323.11_Missense_Mutation_p.E946K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	946					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)		AGCTGAGATGGAAATAAGAGA	0.418000													6	10					0	0	0.001168	0	0
SCN10A	6336	broad.mit.edu	37	3	38739432	38739432	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:38739432G>A	ENST00000449082.2	-	27	5278	c.5279C>T	c.(5278-5280)aCc>aTc	p.T1760I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1760					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGCAGAAAAGGTAATAAACTG	0.512000													17	58					0	0	0.014323	0	0
CLTC	1213	broad.mit.edu	37	17	57756867	57756867	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:57756867C>T	ENST00000269122.3	+	18	3180	c.2906C>T	c.(2905-2907)cCc>cTc	p.P969L	CLTC_ENST00000393043.1_Missense_Mutation_p.P969L|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	969	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TACAGGAGACCCCTAATTGAC	0.418000			T	"""ALK, TFE3"""	"""ALCL, renal """								16	56					0	0	0.012319	0	0
FABP2	2169	broad.mit.edu	37	4	120240779	120240779	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr4:120240779C>T	ENST00000274024.3	-	3	547	c.260G>A	c.(259-261)gGa>gAa	p.G87E		NM_000134.3	NP_000125.2	P12104	FABPI_HUMAN	fatty acid binding protein 2, intestinal	87							fatty acid binding			breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						AAGTTTATTTCCCTCAAGGCT	0.358000													8	22					0	0	0.003080	0	0
MYO18B	84700	broad.mit.edu	37	22	26242184	26242184	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr22:26242184G>A	ENST00000335473.7	+	19	3736	c.3486G>A	c.(3484-3486)agG>agA	p.R1162R	MYO18B_ENST00000407587.2_Silent_p.R1163R|MYO18B_ENST00000536101.1_Silent_p.R1162R	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1162	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGGTGAGGAGGACCTTTGCCA	0.667000													8	52					0	0	0.006214	0	0
ZNF221	7638	broad.mit.edu	37	19	44469185	44469185	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:44469185C>T	ENST00000251269.5	+	4	493	c.165C>T	c.(163-165)taC>taT	p.Y55Y	ZNF221_ENST00000592350.1_Silent_p.Y55Y|ZNF221_ENST00000587682.1_Silent_p.Y55Y	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	55	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(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				GGAAGCTGTACCGAGATGTGA	0.517000													25	230					0	0	0.010818	0	0
DPF1	8193	broad.mit.edu	37	19	38706802	38706802	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:38706802G>A	ENST00000416611.1	-	9	1002	c.879C>T	c.(877-879)tcC>tcT	p.S293S	DPF1_ENST00000414789.1_Silent_p.S237S|DPF1_ENST00000355526.4_Silent_p.S319S|DPF1_ENST00000456296.1_Silent_p.S293S|DPF1_ENST00000412732.1_Silent_p.S237S|DPF1_ENST00000420980.2_Silent_p.S275S			Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	275					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)			AGTCCGCACAGGAGATGAGGT	0.642000													21	78					0	0	0.014323	0	0
TRPV5	56302	broad.mit.edu	37	7	142609657	142609657	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:142609657C>T	ENST00000265310.1	-	13	2127	c.1779G>A	c.(1777-1779)tgG>tgA	p.W593*		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	593					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CCTGGGCCCTCCAGAGCTCAT	0.498000													13	118					0	0	0.003163	0	0
CD163	9332	broad.mit.edu	37	12	7651747	7651747	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:7651747C>T	ENST00000359156.4	-	4	697	c.495G>A	c.(493-495)ggG>ggA	p.G165G	CD163_ENST00000432237.2_Silent_p.G165G|CD163_ENST00000396620.3_Silent_p.G165G|CD163_ENST00000541972.1_Silent_p.G153G	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	165	SRCR 2.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AACACATATTCCCTCCACGCG	0.403000													78	214					0	0	0.014410	0	0
GCSAML	148823	broad.mit.edu	37	1	247737618	247737618	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:247737618G>A	ENST00000366491.2	+	7	779	c.282G>A	c.(280-282)agG>agA	p.R94R	GCSAML_ENST00000366488.4_Silent_p.R114R|GCSAML_ENST00000536561.1_Silent_p.R94R|GCSAML_ENST00000527084.1_Silent_p.R82R|GCSAML_ENST00000366489.1_Silent_p.R94R|RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000527541.1_Silent_p.R82R|GCSAML_ENST00000463359.1_Silent_p.R82R					germinal center-associated, signaling and motility-like																		CCCTTCTTAGGACTTCTGTTA	0.443000													15	54					0	0	0.020292	0	0
C3orf20	84077	broad.mit.edu	37	3	14802992	14802992	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:14802992G>A	ENST00000253697.3	+	15	2817	c.2365G>A	c.(2365-2367)Ggg>Agg	p.G789R	C3orf20_ENST00000435614.1_Missense_Mutation_p.G667R|C3orf20_ENST00000412910.1_Missense_Mutation_p.G667R	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	789						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GTTTGCCGGGGGGAAGCTCAT	0.483000													7	44					0	0	0.004482	0	0
RBM25	58517	broad.mit.edu	37	14	73538452	73538452	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr14:73538452C>T	ENST00000261973.7	+	2	388	c.103C>T	c.(103-105)Cca>Tca	p.P35S	RBM25_ENST00000526754.1_Missense_Mutation_p.P35S|RBM25_ENST00000540173.1_Missense_Mutation_p.P35S|RBM25_ENST00000527432.1_Missense_Mutation_p.P35S|RBM25_ENST00000525321.1_Missense_Mutation_p.P35S	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	35					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		ACCTGTACCTCCAGGTAAGTT	0.448000													19	22					0	0	0.010504	0	0
DNM1P34	729809	broad.mit.edu	37	15	75594836	75594836	+	RNA	SNP	A	A	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr15:75594836A>G	ENST00000567292.1	-	0	470																											GAGGTGCATGATGGTCTTGGG	0.592000													5	46					0	0	0.019004	0	0
FOXA2	3170	broad.mit.edu	37	20	22563676	22563676	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr20:22563676G>A	ENST00000419308.2	-	2	388	c.186C>T	c.(184-186)tcC>tcT	p.S62S	FOXA2_ENST00000319993.4_Silent_p.S68S|FOXA2_ENST00000377115.4_Silent_p.S62S	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	62	Transactivation domain 1 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region 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			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					ACATGTTCATGGAGCCCGCGC	0.706000													23	77					0	0	0.021523	0	0
ACSM1	116285	broad.mit.edu	37	16	20681297	20681297	+	Missense_Mutation	SNP	C	C	T	rs138822345		TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:20681297C>T	ENST00000307493.4	-	5	831	c.764G>A	c.(763-765)cGg>cAg	p.R255Q	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.R255Q	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	255					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CTTCAGGCTCCGTAATTTCCT	0.512000													10	23					0	0	0.010729	0	0
NELL2	4753	broad.mit.edu	37	12	45168628	45168628	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:45168628C>T	ENST00000429094.2	-	9	1400	c.896G>A	c.(895-897)gGa>gAa	p.G299E	NELL2_ENST00000437801.2_Missense_Mutation_p.G349E|NELL2_ENST00000551601.1_Missense_Mutation_p.G298E|NELL2_ENST00000395487.2_Missense_Mutation_p.G298E|NELL2_ENST00000549027.1_Missense_Mutation_p.G298E|NELL2_ENST00000452445.2_Missense_Mutation_p.G299E|NELL2_ENST00000333837.4_Missense_Mutation_p.G322E	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	299	VWFC 1.				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)		CTGGATGGTTCCATTCTGAAA	0.353000											OREG0021741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	39					0	0	0.008291	0	0
CHPF2	54480	broad.mit.edu	37	7	150935419	150935419	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:150935419G>A	ENST00000035307.2	+	4	3484	c.1971G>A	c.(1969-1971)ggG>ggA	p.G657G	CHPF2_ENST00000495645.1_Silent_p.G649G	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	657	Gly/Pro-rich.					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						CCTCCCGGGGGGCTCCTATAG	0.687000													3	41					0	0	0.004672	0	0
RNF133	168433	broad.mit.edu	37	7	122338308	122338308	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:122338308C>T	ENST00000340112.2	-	1	902	c.665G>A	c.(664-666)aGa>aAa	p.R222K	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	222						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TCGCTGCCATCTCCGGTTCTG	0.388000													15	127					0	0	0.004007	0	0
STAT5A	6776	broad.mit.edu	37	17	40453367	40453367	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:40453367T>C	ENST00000345506.4	+	10	1706	c.1064T>C	c.(1063-1065)cTg>cCg	p.L355P	STAT5A_ENST00000590949.1_Missense_Mutation_p.L355P|STAT5A_ENST00000588868.1_Missense_Mutation_p.L355P|STAT5A_ENST00000546010.2_Missense_Mutation_p.L325P|STAT5A_ENST00000452307.2_Missense_Mutation_p.L355P	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	355					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GTACGCCTGCTGGTGGGCGGG	0.557000													63	62					0	0	0.014410	0	0
DMGDH	29958	broad.mit.edu	37	5	78359496	78359496	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:78359496C>T	ENST00000380311.4	-	2	224	c.82G>A	c.(82-84)Gat>Aat	p.D28N	DMGDH_ENST00000520388.1_Intron|DMGDH_ENST00000255189.3_Silent_p.G72G|DMGDH_ENST00000540686.1_5'UTR			Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	0					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CATCTTTCATCCCTGCTTTGG	0.488000													18	76					0	0	0.008871	0	0
DNAJC13	23317	broad.mit.edu	37	3	132218016	132218016	+	Silent	SNP	T	T	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:132218016T>G	ENST00000260818.6	+	37	4451	c.4203T>G	c.(4201-4203)acT>acG	p.T1401T		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1401							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TTATTCGGACTATAACAATGG	0.378000													23	37					0	0	0.004656	0	0
CSMD3	114788	broad.mit.edu	37	8	113267593	113267593	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr8:113267593T>C	ENST00000297405.5	-	62	10170	c.9926A>G	c.(9925-9927)tAc>tGc	p.Y3309C	CSMD3_ENST00000343508.3_Missense_Mutation_p.Y3269C|CSMD3_ENST00000455883.2_Missense_Mutation_p.Y3140C|CSMD3_ENST00000352409.3_Missense_Mutation_p.Y3239C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3309	Sushi 26.					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						CTCTGACTGGTATATAAAGCT	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	46					0	0	0.016723	0	0
DNAH5	1767	broad.mit.edu	37	5	13766133	13766133	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:13766133C>T	ENST00000265104.4	-	59	10157	c.10053G>A	c.(10051-10053)caG>caA	p.Q3351Q	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3351	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)					TTAAGGATTCCTGCCAGGAGG	0.448000									Kartagener syndrome				15	76					0	0	0.006122	0	0
MYO7B	4648	broad.mit.edu	37	2	128335766	128335766	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:128335766C>T	ENST00000389524.4	+	9	961	c.908C>T	c.(907-909)tCg>tTg	p.S303L	MYO7B_ENST00000409816.2_Missense_Mutation_p.S303L|MYO7B_ENST00000428314.1_Missense_Mutation_p.S303L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	303	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)		CACATCCGCTCGGCCATGAAG	0.607000													3	50					0	0	0.004672	0	0
HOXA3	3200	broad.mit.edu	37	7	27150120	27150120	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:27150120C>T	ENST00000396352.4	-	2	339	c.140G>A	c.(139-141)cGa>cAa	p.R47Q	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.R47Q	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	47					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						GCAGGCGGGTCGGTGGTACTC	0.692000													3	7					0	0	0.009096	0	0
HOOK1	51361	broad.mit.edu	37	1	60331594	60331594	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:60331594A>G	ENST00000371208.3	+	19	2052	c.1795A>G	c.(1795-1797)Atg>Gtg	p.M599V	HOOK1_ENST00000395561.2_Missense_Mutation_p.M557V|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	599					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)					AGATGAAGATATGAAAGCAAT	0.333000													5	59					0	0	0.001168	0	0
AOAH	313	broad.mit.edu	37	7	36561714	36561714	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:36561714C>T	ENST00000431169.1	-	20	1830	c.1530G>A	c.(1528-1530)caG>caA	p.Q510Q	AOAH_ENST00000538464.1_Silent_p.Q232Q|AOAH_ENST00000535891.1_Silent_p.Q478Q|AOAH_ENST00000258749.5_Silent_p.Q510Q	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	510					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						TCTGCCACTCCTGTATGACTG	0.572000													9	43					0	0	0.013537	0	0
ARPC2	10109	broad.mit.edu	37	2	219114119	219114119	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:219114119C>T	ENST00000295685.10	+	8	970	c.709C>T	c.(709-711)Cga>Tga	p.R237*	ARPC2_ENST00000315717.5_Nonsense_Mutation_p.R237*|ARPC2_ENST00000477992.1_3'UTR	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	237					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TGCCAGTGCTCGAGACAACAC	0.547000													25	46					0	0	0.006320	0	0
ATP8B4	79895	broad.mit.edu	37	15	50223484	50223484	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr15:50223484G>A	ENST00000284509.6	-	16	1615	c.1474C>T	c.(1474-1476)Cag>Tag	p.Q492*	ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.Q492*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	492					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)		TCAGGTGACTGAACTTGGTAA	0.413000													9	23					0	0	0.006214	0	0
FUCA1	2517	broad.mit.edu	37	1	24172603	24172603	+	Silent	SNP	G	G	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:24172603G>C	ENST00000374479.3	-	7	1228	c.1221C>G	c.(1219-1221)gtC>gtG	p.V407V		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	407					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		CAAGGTTTAAGACTCCATTTT	0.413000													14	25					0	0	0.007413	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144952267	144952267	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:144952267C>A	ENST00000369359.4	-	7	901	c.863G>T	c.(862-864)tGg>tTg	p.W288L	PDE4DIP_ENST00000369351.3_Missense_Mutation_p.W151L|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.W151L|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.W151L|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.W288L|PDE4DIP_ENST00000369347.4_Missense_Mutation_p.W151L|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.W217L|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.W288L|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.W151L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	151					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TACATCTTCCCAGTTTTTGGT	0.542000			T	PDGFRB	MPD								8	78					1.58986e-06	1.64071e-06	0.008291	1	0
TRIM7	81786	broad.mit.edu	37	5	180625700	180625700	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:180625700C>T	ENST00000393315.1	-	5	1051	c.354G>A	c.(352-354)aaG>aaA	p.K118K	TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000361809.3_Silent_p.K118K|CTC-338M12.6_ENST00000512508.1_RNA|CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000274773.7_Silent_p.K326K|TRIM7_ENST00000393319.3_Silent_p.K144K|CTC-338M12.6_ENST00000509080.1_RNA|TRIM7_ENST00000422067.2_Silent_p.K118K	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	326						cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|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)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CTTTGAACTTCTTCAGCATCC	0.537000													9	21					0	0	0.004482	0	0
SCN9A	6335	broad.mit.edu	37	2	167141030	167141030	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:167141030G>A	ENST00000303354.6	-	12	2250	c.1910C>T	c.(1909-1911)gCc>gTc	p.A637V	SCN9A_ENST00000409672.1_Missense_Mutation_p.A636V|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Missense_Mutation_p.A637V|SCN9A_ENST00000409435.1_Missense_Mutation_p.A636V			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	636						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)	GAGCATGAGGGCTGAGCGTCC	0.542000													15	34					0	0	0.006122	0	0
FLNB	2317	broad.mit.edu	37	3	58087985	58087985	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:58087985C>T	ENST00000357272.4	+	9	1566	c.1401C>T	c.(1399-1401)gtC>gtT	p.V467V	FLNB_ENST00000429972.2_Silent_p.V467V|FLNB_ENST00000419752.2_Silent_p.V298V|FLNB_ENST00000358537.3_Silent_p.V467V|FLNB_ENST00000490882.1_Silent_p.V467V|FLNB_ENST00000295956.4_Silent_p.V467V|FLNB_ENST00000493452.1_Silent_p.V298V|FLNB_ENST00000348383.5_Silent_p.V467V			O75369	FLNB_HUMAN	filamin B, beta	467					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)		CCAAAGGCGTCCGTATCCGGG	0.502000													32	54					0	0	0.013726	0	0
FOXC2	2303	broad.mit.edu	37	16	86601503	86601503	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:86601503C>T	ENST00000320354.4	+	1	647	c.562C>T	c.(562-564)Ccg>Tcg	p.P188S		NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	188					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|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 factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						GGAGCCGCCCCCGGCGGCGTC	0.701000									Late-onset Hereditary Lymphedema				7	19					0	0	0.003080	0	0
PPP6C	5537	broad.mit.edu	37	9	127920564	127920564	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:127920564C>T	ENST00000451402.1	-	5	666	c.446G>A	c.(445-447)gGa>gAa	p.G149E	PPP6C_ENST00000415905.1_Missense_Mutation_p.G90E|PPP6C_ENST00000373546.3_Intron|PPP6C_ENST00000373547.4_Missense_Mutation_p.G112E	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	112					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						CTCATGATTTCCTCGCAAAAG	0.358000													28	44					0	0	0.008361	0	0
TSIX	9383	broad.mit.edu	37	X	73045207	73045207	+	RNA	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chrX:73045207C>T	ENST00000604411.1	+	0	33168				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						ATGCTTGCTCCTTTCTTTGTA	0.313000													9	5					0	0	0.006214	0	0
GRXCR2	643226	broad.mit.edu	37	5	145246154	145246154	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:145246154C>T	ENST00000377976.1	-	2	473	c.474G>A	c.(472-474)atG>atA	p.M158I		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	158										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CTTCTTTGTTCATCAGAGACT	0.468000													31	48					0	0	0.021022	0	0
HNRNPA1L2	144983	broad.mit.edu	37	13	53216987	53216987	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr13:53216987C>T	ENST00000342657.3	+	7	1433	c.360C>T	c.(358-360)caC>caT	p.H120H	HNRNPA1L2_ENST00000357495.2_Silent_p.H120H|HNRNPA1L2_ENST00000398039.1_Silent_p.H120H	NM_001011724.1	NP_001011724.1	Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	120	Globular B domain.|RRM 2.				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding			cervix(1)|large_intestine(1)|lung(5)	7						AAGAACATCACCTAAGAGATT	0.398000													8	36					0	0	0.008291	0	0
SLC22A5	6584	broad.mit.edu	37	5	131719902	131719902	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:131719902G>A	ENST00000245407.3	+	3	782	c.561G>A	c.(559-561)caG>caA	p.Q187Q	SLC22A5_ENST00000435065.2_Silent_p.Q211Q	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	187					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GCTTCCTGCAGATCTTCTCGA	0.498000													49	102					0	0	0.014410	0	0
GIMAP6	474344	broad.mit.edu	37	7	150327212	150327212	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:150327212C>T	ENST00000328902.5	-	2	235	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K	GIMAP6_ENST00000493969.1_Missense_Mutation_p.E7K	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	7							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)		GGAATTTGTTCATATTCTTCT	0.428000													9	191					0	0	0.004482	0	0
SYTL2	54843	broad.mit.edu	37	11	85445276	85445276	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:85445276T>C	ENST00000316356.4	-	7	1660	c.1096A>G	c.(1096-1098)Aaa>Gaa	p.K366E	SYTL2_ENST00000528231.1_Missense_Mutation_p.K365E|SYTL2_ENST00000527523.1_Missense_Mutation_p.K317E|SYTL2_ENST00000524452.1_Missense_Mutation_p.K365E|SYTL2_ENST00000389960.4_Missense_Mutation_p.K365E			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	365					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		ATTCCATTTTTCAATCTGTCA	0.438000													12	78					0	0	0.020292	0	0
PCGF2	7703	broad.mit.edu	37	17	36895320	36895320	+	Splice_Site	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:36895320C>T	ENST00000580830.1	-	7	1018		c.e7+1		PCGF2_ENST00000360797.2_Splice_Site|PCGF2_ENST00000579882.1_Splice_Site|PCGF2_ENST00000578109.1_Splice_Site|PCGF2_ENST00000585100.1_Splice_Site|PCGF2_ENST00000581345.1_Splice_Site			P35227	PCGF2_HUMAN	polycomb group ring finger 2						negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					AGCACACTCACCCTCCGTCAG	0.597000													12	85					0	0	0.020292	0	0
DNAH8	1769	broad.mit.edu	37	6	38747801	38747801	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr6:38747801T>A	ENST00000359357.3	+	13	1702	c.1448T>A	c.(1447-1449)aTt>aAt	p.I483N	DNAH8_ENST00000449981.2_Missense_Mutation_p.I700N|DNAH8_ENST00000441566.1_Missense_Mutation_p.I483N					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						ATAGAGCGTATTCTTCAGTAC	0.328000													20	25					0	0	0.007291	0	0
SLC22A2	6582	broad.mit.edu	37	6	160671634	160671634	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr6:160671634G>A	ENST00000366952.1	-	5	2037	c.556C>T	c.(556-558)Cgc>Tgc	p.R186C	SLC22A2_ENST00000366953.3_Missense_Mutation_p.R207C|SLC22A2_ENST00000491092.1_5'UTR			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	207					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TGGATTAAGCGAAAAATTAAC	0.463000													31	49					0	0	0.006230	0	0
KIF18B	146909	broad.mit.edu	37	17	43005640	43005640	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:43005640C>G	ENST00000587309.1	-	13	2089	c.2066G>C	c.(2065-2067)gGa>gCa	p.G689A	KIF18B_ENST00000438933.2_Missense_Mutation_p.G689A|KIF18B_ENST00000339151.4_Missense_Mutation_p.G680A|KIF18B_ENST00000593135.1_Missense_Mutation_p.G677A|KIF18B_ENST00000590129.1_Missense_Mutation_p.G698A	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GGCCCTTTCTCCTTTGGGGGT	0.657000													11	8					0	0	0.020292	0	0
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139106979	139106979	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:139106979T>G	ENST00000354926.4	+	10	1426	c.1072T>G	c.(1072-1074)Tca>Gca	p.S358A	LUC7L2_ENST00000541515.3_Missense_Mutation_p.S424A|C7orf55-LUC7L2_ENST00000482860.1_3'UTR|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.S357A|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.S355A	NM_016019.3	NP_057103.2																					AAGAGACAGATCACCTCGTGA	0.443000													16	94					0	0	0.004007	0	0
RGPD4	285190	broad.mit.edu	37	2	108489194	108489194	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:108489194G>A	ENST00000408999.3	+	20	4811	c.4734G>A	c.(4732-4734)ttG>ttA	p.L1578L	RGPD4_ENST00000354986.4_Silent_p.L1578L	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1578					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATGCATCTTTGAAAAGTAACA	0.353000													94	142					0	0	0.014410	0	0
SACS	26278	broad.mit.edu	37	13	23908710	23908710	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr13:23908710A>T	ENST00000382298.3	-	10	9893	c.9305T>A	c.(9304-9306)tTa>tAa	p.L3102*	SACS_ENST00000402364.1_Nonsense_Mutation_p.L2352*|SACS_ENST00000382292.3_Nonsense_Mutation_p.L3102*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3102					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAATGTCATTAAAAAAGATCT	0.353000													7	38					0	0	0.008291	0	0
C3orf56	285311	broad.mit.edu	37	3	126916060	126916060	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:126916060C>T	ENST00000398112.1	+	2	772	c.532C>T	c.(532-534)Ccc>Tcc	p.P178S		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		CAGAGGAGCTCCCTACTTGAA	0.647000													14	17					0	0	0.020292	0	0
COL15A1	1306	broad.mit.edu	37	9	101796832	101796832	+	Splice_Site	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:101796832G>A	ENST00000375001.3	+	17	2468	c.2043_splice	c.e17-1	p.G682_splice		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	682	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTTTTTCAGGGAGCAAGAGGG	0.348000													9	9					0	0	0.008291	0	0
LRTM2	654429	broad.mit.edu	37	12	1943759	1943759	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:1943759G>A	ENST00000543818.1	+	5	1827	c.985G>A	c.(985-987)Gct>Act	p.A329T	LRTM2_ENST00000299194.1_Missense_Mutation_p.A329T|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.A329T	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	329						integral to membrane		p.A329T(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GGTGGTGGCCGCTGCCTATGG	0.662000													3	62					0	0	0.009096	0	0
ANKFN1	162282	broad.mit.edu	37	17	54559724	54559724	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:54559724A>G	ENST00000566473.2	+	17	2108	c.2108A>G	c.(2107-2109)aAc>aGc	p.N703S	ANKFN1_ENST00000318698.2_Missense_Mutation_p.N703S			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	703										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CAGGCAAGGAACTTCCGCCTC	0.498000													73	79					0	0	0.014410	0	0
PIWIL2	55124	broad.mit.edu	37	8	22139008	22139008	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr8:22139008G>T	ENST00000356766.6	+	4	553	c.405G>T	c.(403-405)gaG>gaT	p.E135D	PIWIL2_ENST00000521356.1_Missense_Mutation_p.E135D|PIWIL2_ENST00000454009.2_Missense_Mutation_p.E135D	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	135					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AGATGGCAGAGACCTCCGTTG	0.483000													42	42					2.2871e-25	2.42753e-25	0.007835	1	0
CNPY2	10330	broad.mit.edu	37	12	56708919	56708919	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:56708919C>G	ENST00000273308.4	-	2	623	c.83G>C	c.(82-84)tGt>tCt	p.C28S	RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.C28S|CNPY2_ENST00000551720.1_5'UTR	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	28	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding			large_intestine(2)|lung(2)	4						TTTACCTCCACAGTGGAGATC	0.587000													22	40					0	0	0.018920	0	0
OR10X1	128367	broad.mit.edu	37	1	158549333	158549333	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:158549333G>A	ENST00000368150.1	-	1	356	c.357C>T	c.(355-357)ttC>ttT	p.F119F		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	119					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)					GTCCCAAGAAGAAGCACATCT	0.473000													13	58					0	0	0.020292	0	0
DUSP16	80824	broad.mit.edu	37	12	12640061	12640061	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:12640061G>A	ENST00000228862.2	-	5	1223	c.592C>T	c.(592-594)Cct>Tct	p.P198S	DUSP16_ENST00000545864.1_5'UTR|DUSP16_ENST00000298573.4_Missense_Mutation_p.A143V|RP11-253I19.3_ENST00000544086.1_lincRNA	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	198					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		ATAAAGTCAGGCTTTGGACAG	0.423000													34	113					0	0	0.021022	0	0
PRR12	57479	broad.mit.edu	37	19	50099390	50099390	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:50099390C>T	ENST00000418929.2	+	4	1810	c.1798C>T	c.(1798-1800)Ctg>Ttg	p.L600L		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	364	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AGCGCCTTTCCTGGCACCTCC	0.687000													4	54					0	0	0.009096	0	0
RGPD4	285190	broad.mit.edu	37	2	108487597	108487597	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:108487597A>C	ENST00000408999.3	+	20	3214	c.3137A>C	c.(3136-3138)gAa>gCa	p.E1046A	RGPD4_ENST00000354986.4_Missense_Mutation_p.E1046A	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1046	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CAAATGCCTGAAAAAGTAGAA	0.383000													133	341					0	0	0.014410	0	0
SF3B1	23451	broad.mit.edu	37	2	198264885	198264885	+	Silent	SNP	T	T	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:198264885T>C	ENST00000335508.5	-	20	2998	c.2907A>G	c.(2905-2907)aaA>aaG	p.K969K		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	969					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTCCCATCAATTTTTCCTATA	0.338000			Mis		myelodysplastic syndrome								20	57					0	0	0.016522	0	0
ZNF705D	728957	broad.mit.edu	37	8	11970602	11970602	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr8:11970602G>A	ENST00000400085.3	+	6	954	c.838G>A	c.(838-840)Gga>Aga	p.G280R		NM_001039615.3	NP_001034704.2	P0CH99	Z705D_HUMAN	zinc finger protein 705D	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						AATTCACATTGGAGAGAAACC	0.423000													40	121					0	0	0.014410	0	0
PCLO	27445	broad.mit.edu	37	7	82582033	82582033	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:82582033C>T	ENST00000423517.2	-	5	8573	c.8236G>A	c.(8236-8238)Gat>Aat	p.D2746N	PCLO_ENST00000333891.8_Missense_Mutation_p.D2746N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2677					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						GCAGAAAGATCAATACATTTA	0.348000													24	9					0	0	0.021523	0	0
NELL1	4745	broad.mit.edu	37	11	21581830	21581830	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:21581830C>T	ENST00000298925.5	+	18	2119	c.1966C>T	c.(1966-1968)Ccc>Tcc	p.P656S	NELL1_ENST00000529218.1_Intron|NELL1_ENST00000532434.1_Missense_Mutation_p.P581S|NELL1_ENST00000325319.5_Missense_Mutation_p.P571S|NELL1_ENST00000357134.5_Missense_Mutation_p.P628S			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	628	VWFC 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CCCCTCTGGGCCCTCCTGCTC	0.547000													36	35					0	0	0.005524	0	0
KCNH6	81033	broad.mit.edu	37	17	61601559	61601559	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:61601559G>A	ENST00000583023.1	+	2	147	c.136G>A	c.(136-138)Gac>Aac	p.D46N	KCNH6_ENST00000581784.1_Missense_Mutation_p.D46N|KCNH6_ENST00000580652.1_Missense_Mutation_p.D46N|KCNH6_ENST00000456941.2_Missense_Mutation_p.D46N|KCNH6_ENST00000314672.5_Missense_Mutation_p.D46N	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	46	PAS.				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)	TTACTGCAACGACGGCTTCTG	0.587000													39	246					0	0	0.009718	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418987	105418987	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr14:105418987G>A	ENST00000333244.5	-	7	2920	c.2801C>T	c.(2800-2802)cCc>cTc	p.P934L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	934						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)			ATCTATCTGGGGGCCCTTGAG	0.627000													138	114					0	0	0.014410	0	0
SNRPN	6638	broad.mit.edu	37	15	25223563	25223563	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr15:25223563C>T	ENST00000444203.2	+	8	1746	c.707C>T	c.(706-708)cCc>cTc	p.P236L	SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000554227.2_Missense_Mutation_p.P236L|SNRPN_ENST00000390687.4_Missense_Mutation_p.P232L|SNRPN_ENST00000346403.6_Missense_Mutation_p.P232L|SNRPN_ENST00000400098.1_Missense_Mutation_p.P232L|SNRPN_ENST00000400097.1_Missense_Mutation_p.P232L|SNRPN_ENST00000577565.1_Missense_Mutation_p.P232L|SNRPN_ENST00000400100.1_Missense_Mutation_p.P232L			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	232	Repeat-rich region.				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GGTCCACCTCCCCCAGGAATG	0.473000									Prader-Willi syndrome				53	196					0	0	0.014410	0	0
MACROD2	140733	broad.mit.edu	37	20	15210650	15210650	+	Silent	SNP	T	T	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr20:15210650T>C	ENST00000217246.4	+	6	878	c.483T>C	c.(481-483)ctT>ctC	p.L161L	MACROD2_ENST00000310348.4_Silent_p.L161L|MACROD2_ENST00000402914.1_5'UTR	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	161	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AGGAAGACCTTGCAAATTGCT	0.368000													12	34					0	0	0.003163	0	0
FASTKD5	60493	broad.mit.edu	37	20	3128839	3128839	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr20:3128839T>A	ENST00000380266.3	-	2	1199	c.878A>T	c.(877-879)cAg>cTg	p.Q293L	UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	293					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						CTGGGATACCTGACGATTTTC	0.338000													26	53					0	0	0.009535	0	0
XIRP2	129446	broad.mit.edu	37	2	168103758	168103758	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:168103758G>A	ENST00000409195.1	+	9	5945	c.5856G>A	c.(5854-5856)gtG>gtA	p.V1952V	XIRP2_ENST00000295237.9_Silent_p.V1952V|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.V1730V|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1777					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						CTAAAGCTGTGATGGCAGGAT	0.408000													11	30					0	0	0.010729	0	0
BEND2	139105	broad.mit.edu	37	X	18220055	18220055	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chrX:18220055G>T	ENST00000380033.4	-	6	1045	c.913C>A	c.(913-915)Cca>Aca	p.P305T	BEND2_ENST00000380030.3_Intron	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	305										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GGTCTTTCTGGCATTTCTGTA	0.343000													19	13					5.35267e-07	5.53566e-07	0.007413	1	0
DDC	1644	broad.mit.edu	37	7	50597007	50597007	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:50597007G>A	ENST00000444124.2	-	5	669	c.469C>T	c.(469-471)Ctg>Ttg	p.L157L	DDC_ENST00000426377.1_Silent_p.L79L|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000357936.5_Silent_p.L157L|DDC_ENST00000431062.1_Intron|DDC_ENST00000380984.4_Silent_p.L157L	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	157	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)	CGAGCGGCCAGCAGGGCCACC	0.547000													13	45					0	0	0.016723	0	0
ZNF600	162966	broad.mit.edu	37	19	53269236	53269236	+	Silent	SNP	G	G	A	rs151077073		TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:53269236G>A	ENST00000338230.3	-	3	2040	c.1773C>T	c.(1771-1773)ttC>ttT	p.F591F		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AATTACGCACGAAAGCCTTGT	0.423000													27	197					0	0	0.005443	0	0
CMYA5	202333	broad.mit.edu	37	5	79035102	79035102	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:79035102A>T	ENST00000446378.2	+	2	10545	c.10514A>T	c.(10513-10515)aAa>aTa	p.K3505I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3505						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)		AAAGAGCTGAAAAAGTCCCAG	0.428000													4	4					0	0	0.014758	0	0
BPTF	2186	broad.mit.edu	37	17	65850419	65850419	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:65850419G>A	ENST00000321892.4	+	2	1038	c.977G>A	c.(976-978)tGg>tAg	p.W326*	BPTF_ENST00000335221.5_Nonsense_Mutation_p.W326*|BPTF_ENST00000306378.6_Nonsense_Mutation_p.W326*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.W187*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	326					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)			GGGATGACGTGGCCAGAGGTG	0.478000													14	89					0	0	0.020292	0	0
UNC13C	440279	broad.mit.edu	37	15	54307555	54307555	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr15:54307555C>T	ENST00000545554.1	+	1	2455	c.2455C>T	c.(2455-2457)Ctg>Ttg	p.L819L	UNC13C_ENST00000537900.1_Silent_p.L819L|UNC13C_ENST00000260323.11_Silent_p.L819L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	819					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)		CACACAGAGTCTGAGTGGGTA	0.428000													27	26					0	0	0.012213	0	0
ZBED1	9189	broad.mit.edu	37	X	2408252	2408252	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chrX:2408252G>T	ENST00000381223.4	-	2	712	c.509C>A	c.(508-510)aCc>aAc	p.T170N	ZBED1_ENST00000381222.2_Missense_Mutation_p.T170N|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Missense_Mutation_p.T170N	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	170						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			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)				GATGGCCTTGGTAGAGATGTA	0.637000													25	166					5.77227e-19	6.08666e-19	0.008361	1	0
MAML3	55534	broad.mit.edu	37	4	140810909	140810909	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr4:140810909G>A	ENST00000509479.2	-	2	2537	c.1681C>T	c.(1681-1683)Ctg>Ttg	p.L561L	MAML3_ENST00000327122.5_Silent_p.L405L|MAML3_ENST00000398940.1_Silent_p.L89L	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	557	Asn-rich.|Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GTCTTCTGCAGGTTGTTTGCC	0.408000													81	192					0	0	0.014410	0	0
WAS	7454	broad.mit.edu	37	X	48542297	48542297	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chrX:48542297C>T	ENST00000376701.4	+	1	130	c.55C>T	c.(55-57)Cag>Tag	p.Q19*	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	19					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				ACCAGCGGTTCAGCAGAACAT	0.622000			"""Mis, N, F, S"""			lymphoma							30	27					0	0	0.009535	0	0
KRT17	3872	broad.mit.edu	37	17	39780634	39780634	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:39780634C>T	ENST00000311208.8	-	1	195	c.128G>A	c.(127-129)gGa>gAa	p.G43E	JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	43	Head.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GCCAGCAGATCCCAGCCTGCA	0.692000													8	12					0	0	0.004482	0	0
NINJ1	4814	broad.mit.edu	37	9	95888815	95888815	+	Missense_Mutation	SNP	C	C	T	rs144669023		TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:95888815C>T	ENST00000375446.4	-	2	251	c.181G>A	c.(181-183)Gcg>Acg	p.A61T		NM_004148.3	NP_004139.2	Q92982	NINJ1_HUMAN	ninjurin 1	61					cell adhesion|nervous system development|tissue regeneration	integral to membrane				kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	4						AGCTGGGACGCGTTGGCCATC	0.637000													9	58					0	0	0.006214	0	0
CDC42EP1	11135	broad.mit.edu	37	22	37962739	37962739	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr22:37962739C>T	ENST00000249014.4	+	2	803	c.383C>T	c.(382-384)gCc>gTc	p.A128V		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	128					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CTCAACCAGGCCGCCTACGAC	0.677000													91	109					0	0	0.014410	0	0
CELSR1	9620	broad.mit.edu	37	22	46794535	46794535	+	Splice_Site	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr22:46794535C>T	ENST00000262738.3	-	11	5412		c.e11-1			NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1						central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTGCCTTGTTCTGTGCGGAGA	0.592000													40	29					0	0	0.014410	0	0
TBX3	6926	broad.mit.edu	37	12	115120881	115120881	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:115120881G>T	ENST00000349155.2	-	1	1088	c.125C>A	c.(124-126)cCc>cAc	p.P42H	TBX3_ENST00000257566.3_Missense_Mutation_p.P42H	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	42					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CGTCAGCGCGGGGAAGAACGG	0.701000													6	28					9.70103e-10	1.0141e-09	0.008291	1	0
MUC17	140453	broad.mit.edu	37	7	100676562	100676562	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:100676562C>T	ENST00000306151.4	+	3	1929	c.1865C>T	c.(1864-1866)tCa>tTa	p.S622L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	622	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)					ATGCCAACCTCAACTTACAGT	0.468000													494	231					0	0	0.014410	0	0
ANO4	121601	broad.mit.edu	37	12	101333113	101333113	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:101333113C>T	ENST00000392979.3	+	3	437	c.76C>T	c.(76-78)Ctt>Ttt	p.L26F	ANO4_ENST00000392977.3_Missense_Mutation_p.L61F|ANO4_ENST00000538618.1_Missense_Mutation_p.L227F|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	61						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						TGTCAATATTCTTTTTGATGA	0.393000										HNSCC(74;0.22)			41	55					0	0	0.013114	0	0
RYR1	6261	broad.mit.edu	37	19	38980715	38980715	+	Splice_Site	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:38980715G>A	ENST00000355481.4	+	36	5945		c.e36-1		RYR1_ENST00000359596.3_Splice_Site|RYR1_ENST00000360985.3_Splice_Site	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)						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)	TCCTTCCACAGATGTGCCACC	0.582000													11	73					0	0	0.003163	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22864244	22864244	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr8:22864244C>T	ENST00000251822.6	+	5	1023	c.486C>T	c.(484-486)ccC>ccT	p.P162P	RHOBTB2_ENST00000522948.1_Silent_p.P169P|RP11-875O11.1_ENST00000523884.1_RNA|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Silent_p.P184P	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	162	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CTACCAGGCCCATCAAACCTA	0.587000													66	32					0	0	0.014410	0	0
CDR2	1039	broad.mit.edu	37	16	22358900	22358900	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:22358900C>T	ENST00000268383.2	-	5	1058	c.751G>A	c.(751-753)Gag>Aag	p.E251K		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	251						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		ACCTCGGCCTCTAGTTCCAGC	0.542000													16	97					0	0	0.006122	0	0
CHPF	79586	broad.mit.edu	37	2	220406541	220406541	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:220406541G>A	ENST00000243776.6	-	2	933	c.685C>T	c.(685-687)Ccc>Tcc	p.P229S	CHPF_ENST00000373891.2_Missense_Mutation_p.P229S|CHPF_ENST00000535926.1_Missense_Mutation_p.P67S	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	229						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AAGTCCTGGGGCCGGCCCAGG	0.701000											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	8					0	0	0.001984	0	0
BCL9	607	broad.mit.edu	37	1	147091879	147091879	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:147091879C>G	ENST00000234739.3	+	8	2658	c.1918C>G	c.(1918-1920)Cag>Gag	p.Q640E		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	640	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGCAGAGAAACAGCTGGGTCT	0.597000			T	"""IGH@, IGL@"""	B-ALL								9	59					0	0	0.004482	0	0
ADCY9	115	broad.mit.edu	37	16	4016009	4016009	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:4016009C>T	ENST00000294016.3	-	11	4367	c.3829G>A	c.(3829-3831)Gag>Aag	p.E1277K		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1277				QHQLSISPDIRVQVDGSIGRSPTDEIANLVPSVQYVDKTSL GSDSSTQAKDAHLSPKRPWKEPVKAEERGRFGKAIEKDDCD ETGIEEANELTKLNVSKSV -> APAVHLPRHPRPGGWQHR TVSHRRDCQPGAFCPVCGQDISGF (in Ref. 1; AAC24201).	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 plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTGGCAATCTCGTCTGTGGGA	0.592000													18	32					0	0	0.006122	0	0
WHSC1	7468	broad.mit.edu	37	4	1919900	1919900	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr4:1919900C>T	ENST00000503128.1	+	5	1167	c.960C>T	c.(958-960)gcC>gcT	p.A320A	WHSC1_ENST00000508803.1_Silent_p.A320A|WHSC1_ENST00000382895.3_Silent_p.A320A|WHSC1_ENST00000382892.2_Silent_p.A320A|WHSC1_ENST00000398261.1_Silent_p.A320A|WHSC1_ENST00000382891.5_Silent_p.A320A|WHSC1_ENST00000420906.2_Silent_p.A320A|WHSC1_ENST00000514045.1_Silent_p.A320A			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	320					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AATTGAGGGCCCAGTGGGAAA	0.438000			T	IGH@	MM								27	26					0	0	0.007291	0	0
PRDM10	56980	broad.mit.edu	37	11	129814664	129814664	+	Splice_Site	SNP	A	A	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:129814664A>C	ENST00000358825.5	-	6	994		c.e6+1		PRDM10_ENST00000526082.1_Splice_Site|PRDM10_ENST00000304538.6_Splice_Site|PRDM10_ENST00000423662.2_Splice_Site|PRDM10_ENST00000360871.3_Splice_Site|PRDM10_ENST00000528746.1_Splice_Site	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		AGCATAAATTACCTTGAGGTG	0.512000													30	68					0	0	0.012213	0	0
SLC1A3	6507	broad.mit.edu	37	5	36629592	36629592	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:36629592C>T	ENST00000265113.4	+	3	698	c.222C>T	c.(220-222)agC>agT	p.S74S	SLC1A3_ENST00000381918.3_Silent_p.S74S	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	74					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	ACAGAATGAGCTACCGGGAAG	0.393000													13	51					0	0	0.020292	0	0
NDST4	64579	broad.mit.edu	37	4	115754820	115754820	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr4:115754820C>T	ENST00000264363.2	-	12	3016	c.2338G>A	c.(2338-2340)Gat>Aat	p.D780N		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	780	Heparan sulfate N-sulfotransferase 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)		TGGACTTCATCCATCACAGTA	0.363000													5	31					0	0	0.001168	0	0
OR2A2	442361	broad.mit.edu	37	7	143807476	143807476	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:143807476G>A	ENST00000408979.2	+	1	870	c.801G>A	c.(799-801)gaG>gaA	p.E267E		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	267					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)					ATCAACGAGAGGAGCAGGAGA	0.512000													125	111					0	0	0.014410	0	0
KPRP	448834	broad.mit.edu	37	1	152733646	152733646	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:152733646C>T	ENST00000368773.1	+	2	1640	c.1582C>T	c.(1582-1584)Ccc>Tcc	p.P528S	KPRP_ENST00000606109.1_Missense_Mutation_p.P528S	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	528						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)			CACCGAAGCTCCCTACTGTGG	0.607000													11	52					0	0	0.020292	0	0
TADA3	10474	broad.mit.edu	37	3	9827040	9827040	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:9827040C>T	ENST00000343450.2	-	7	1427	c.880G>A	c.(880-882)Ggg>Agg	p.G294R	TADA3_ENST00000301964.2_Missense_Mutation_p.G294R|TADA3_ENST00000440161.1_Missense_Mutation_p.G294R	NM_133480.1	NP_597814.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	294					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						GTGCTTGCCCCGTCAGCCCCT	0.507000													10	41					0	0	0.003163	0	0
FER1L6	654463	broad.mit.edu	37	8	125058134	125058134	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr8:125058134G>A	ENST00000522917.1	+	21	2922	c.2716G>A	c.(2716-2718)Gac>Aac	p.D906N	FER1L6_ENST00000399018.1_Missense_Mutation_p.D906N	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	906	C2 3.					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)			GTATGACAGCGACGCTGTGGT	0.502000													183	59					0	0	0.014410	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140746180	140746180	+	Silent	SNP	G	G	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:140746180G>T	ENST00000518069.1	+	1	2283	c.2283G>T	c.(2281-2283)gcG>gcT	p.A761A	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_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)			CCCTCACCGCGGACTCGAGGA	0.592000													63	97					5.32961e-40	5.69433e-40	0.014410	1	0
NOP56	10528	broad.mit.edu	37	20	2636095	2636095	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr20:2636095G>A	ENST00000329276.5	+	6	1210	c.694G>A	c.(694-696)Gag>Aag	p.E232K		NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	232					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						GGAGAAGCTGGAGGAGCTGAC	0.537000													35	36					0	0	0.019004	0	0
DCHS2	54798	broad.mit.edu	37	4	155241615	155241615	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr4:155241615G>A	ENST00000357232.3	-	14	3570	c.3571C>T	c.(3571-3573)Cca>Tca	p.P1191S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1191	Cadherin 10.				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)		CCTTCGTCTGGATCGTGAGCA	0.443000													46	74					0	0	0.014410	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900242	151900242	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chrX:151900242C>T	ENST00000393900.3	-	3	912	c.559G>A	c.(559-561)Gat>Aat	p.D187N	MAGEA12_ENST00000357916.4_Missense_Mutation_p.D187N|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Missense_Mutation_p.D187N	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	187	MAGE.			D -> A (in Ref. 1; AAA19023).						breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AGCAGGCCATCGTAGGAGAGG	0.582000													99	47					0	0	0.014410	0	0
SLC9C2	284525	broad.mit.edu	37	1	173503740	173503740	+	Silent	SNP	T	T	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:173503740T>G	ENST00000367714.3	-	16	2279	c.1857A>C	c.(1855-1857)atA>atC	p.I619I	SLC9C2_ENST00000536496.1_Intron|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	619					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										GATAAATATATATCAAATTTA	0.254000													9	44					0	0	0.004482	0	0
DNAH7	56171	broad.mit.edu	37	2	196636561	196636561	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:196636561G>A	ENST00000312428.6	-	61	11356	c.11256C>T	c.(11254-11256)gtC>gtT	p.V3752V	DNAH7_ENST00000409063.1_Silent_p.V235V	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3752					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.V3752V(1)		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						TGTCACTAGCGACCTCATTCA	0.428000													64	162					0	0	0.014410	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558864	129558864	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:129558864G>A	ENST00000422113.2	-	9	3182	c.2856C>T	c.(2854-2856)ttC>ttT	p.F952F	TMEM132D_ENST00000389441.4_Silent_p.F490F	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	952						integral to membrane		p.F952L(1)		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)		CCTGCTCCTCGAAGGGAACCT	0.463000													34	105					0	0	0.009718	0	0
LINC00264	645528	broad.mit.edu	37	10	26880239	26880239	+	RNA	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr10:26880239G>A	ENST00000412114.1	+	0	474					NR_026793.1																						TCCCTCTCAGGACCTATAAAA	0.423000													30	25					0	0	0.015359	0	0
ENTPD8	377841	broad.mit.edu	37	9	140331357	140331357	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:140331357C>T	ENST00000371506.2	-	5	702	c.519G>A	c.(517-519)tgG>tgA	p.W173*	ENTPD8_ENST00000344119.2_Nonsense_Mutation_p.W173*|ENTPD8_ENST00000472938.1_Nonsense_Mutation_p.W173*	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	173						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		TGACAGTGATCCAACCAAAGG	0.667000													52	47					0	0	0.014410	0	0
RP1L1	94137	broad.mit.edu	37	8	10474018	10474018	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr8:10474018A>C	ENST00000382483.3	-	3	912	c.689T>G	c.(688-690)aTg>aGg	p.M230R		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	230					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)		GGCATTTTTCATGGCTGGGGT	0.572000													8	78					0	0	0.010729	0	0
MUC16	94025	broad.mit.edu	37	19	9082451	9082451	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:9082451T>C	ENST00000397910.4	-	1	9567	c.9364A>G	c.(9364-9366)Aca>Gca	p.T3122A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3123	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						AACAAGGATGTTGGGGTCTCA	0.498000													51	123					0	0	0.014410	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450038	105450038	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chrX:105450038G>A	ENST00000337685.2	+	5	1398	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	MUM1L1_ENST00000357175.2_Missense_Mutation_p.E205K|MUM1L1_ENST00000372552.1_Missense_Mutation_p.E205K	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	205										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGATAATGATGAAAAAGAGAA	0.388000													4	2					0	0	0.009096	0	0
TINAGL1	64129	broad.mit.edu	37	1	32044857	32044857	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:32044857C>T	ENST00000271064.7	+	3	439	c.363C>T	c.(361-363)aaC>aaT	p.N121N	TINAGL1_ENST00000457433.2_Silent_p.N121N|TINAGL1_ENST00000441210.2_Silent_p.N121N|TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000537531.1_Intron	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	121					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		ACTGGGACAACTGTAACCGTT	0.493000													33	82					0	0	0.009718	0	0
EXOC1	55763	broad.mit.edu	37	4	56734621	56734621	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr4:56734621G>A	ENST00000381295.2	+	5	883	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	EXOC1_ENST00000346134.7_Missense_Mutation_p.E179K|EXOC1_ENST00000349598.6_Missense_Mutation_p.E179K	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	179					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GGAAGGCTGTGAATATGCAAT	0.403000													49	51					0	0	0.014410	0	0
KIF17	57576	broad.mit.edu	37	1	21011406	21011406	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:21011406G>A	ENST00000247986.2	-	10	2437	c.2127C>T	c.(2125-2127)ccC>ccT	p.P709P	KIF17_ENST00000400463.3_Silent_p.P709P|KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Silent_p.P609P			Q9P2E2	KIF17_HUMAN	kinesin family member 17	709					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-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;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGGCCGGCAGGGGCTCAGGCT	0.672000													4	10					0	0	0.001168	0	0
ASXL3	80816	broad.mit.edu	37	18	31326113	31326113	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr18:31326113G>T	ENST00000269197.5	+	12	6301	c.6301G>T	c.(6301-6303)Gtt>Ttt	p.V2101F		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2101					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						CATGAAACAAGTTTCCTATGA	0.408000													19	39					2.89027e-11	3.0279e-11	0.014323	1	0
CHRM4	1132	broad.mit.edu	37	11	46406672	46406672	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:46406672C>T	ENST00000433765.2	-	1	1435	c.1436G>A	c.(1435-1437)aGg>aAg	p.R479K		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	479					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	GCCTGCCTACCTGGCAGTGCC	0.597000													7	9					0	0	0.001984	0	0
BARX2	8538	broad.mit.edu	37	11	129306737	129306737	+	Silent	SNP	C	C	T	rs149011396	byFrequency	TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:129306737C>T	ENST00000281437.4	+	2	375	c.279C>T	c.(277-279)atC>atT	p.I93I	BARX2_ENST00000526127.1_5'UTR	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	93										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CCCCGGGAATCGCCCAGGCAC	0.677000													28	97					0	0	0.009535	0	0
OR52E6	390078	broad.mit.edu	37	11	5862252	5862252	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:5862252G>A	ENST00000329322.5	-	1	875	c.876C>T	c.(874-876)atC>atT	p.I292I	OR52E6_ENST00000379946.2_Silent_p.I296I|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGACCCCATAGATTACAGGAT	0.423000													11	42					0	0	0.016723	0	0
OR2C3	81472	broad.mit.edu	37	1	247694951	247694951	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:247694951G>A	ENST00000366487.3	-	2	1224	c.863C>T	c.(862-864)cCa>cTa	p.P288L	GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-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)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GTAAATAAGTGGGTTCAGCGC	0.532000													34	46					0	0	0.006999	0	0
MTUS2	23281	broad.mit.edu	37	13	29599548	29599548	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr13:29599548G>A	ENST00000431530.3	+	1	801	c.743G>A	c.(742-744)gGa>gAa	p.G248E		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	238						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						ACCTCAGAGGGAAAGAGTGTG	0.577000													5	20					0	0	0.001168	0	0
SLC39A5	283375	broad.mit.edu	37	12	56630755	56630755	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:56630755C>T	ENST00000266980.4	+	9	1541	c.1248C>T	c.(1246-1248)acC>acT	p.T416T	SLC39A5_ENST00000454355.2_Silent_p.T416T|SLC39A5_ENST00000419232.1_3'UTR	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	416					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCTCAGTACCACCTTAGCGG	0.582000													136	205					0	0	0.014410	0	0
PLIN1	5346	broad.mit.edu	37	15	90213233	90213233	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr15:90213233G>A	ENST00000300055.5	-	5	741	c.576C>T	c.(574-576)ctC>ctT	p.L192L	PLIN1_ENST00000430628.2_Silent_p.L192L	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	192					triglyceride catabolic process	lipid particle	lipid binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						TGTCTGGAGGGAGGAGGTACT	0.597000													16	21					0	0	0.012319	0	0
CEP192	55125	broad.mit.edu	37	18	13099491	13099491	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr18:13099491C>A	ENST00000506447.1	+	37	6654	c.6574C>A	c.(6574-6576)Ctt>Att	p.L2192I	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.L1717I|CEP192_ENST00000325971.8_Missense_Mutation_p.L1596I	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1787										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ACTACAAATTCTTGTGAGTCC	0.338000													16	33					2.35188e-11	2.46922e-11	0.006122	1	0
OR5D14	219436	broad.mit.edu	37	11	55563665	55563665	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:55563665A>G	ENST00000335605.1	+	1	634	c.634A>G	c.(634-636)Aca>Gca	p.T212A		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T212P(1)		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)				TGAGATGTGTACACTACTGAT	0.463000													16	113					0	0	0.004007	0	0
ALPK2	115701	broad.mit.edu	37	18	56171359	56171359	+	Silent	SNP	G	G	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr18:56171359G>A	ENST00000361673.3	-	11	6264	c.6051C>T	c.(6049-6051)atC>atT	p.I2017I		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	2017	Alpha-type protein kinase.						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						CAGGCCGATGGATAAGAAAAA	0.473000													14	71					0	0	0.003163	0	0
DNAH17	8632	broad.mit.edu	37	17	76490699	76490699	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:76490699C>T	ENST00000389840.5	-	40	6328	c.6204G>A	c.(6202-6204)cgG>cgA	p.R2068R	RP11-559N14.5_ENST00000591373.1_RNA|DNAH17_ENST00000585328.1_Silent_p.R2077R					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)			GGTCCCGTTTCCGAGGCACGT	0.592000													74	95					0	0	0.014410	0	0
PITPNM3	83394	broad.mit.edu	37	17	6364707	6364707	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:6364707T>G	ENST00000262483.8	-	18	2563	c.2476A>C	c.(2476-2478)Aac>Cac	p.N826H	ACKR6_ENST00000421306.3_Missense_Mutation_p.N790H|ACKR6_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2																					TGCATGAGGTTGCGCAGGAAG	0.642000													37	46					0	0	0.017118	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149216011	149216011	+	Silent	SNP	C	C	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:149216011C>T	ENST00000309241.5	+	8	2025	c.1993C>T	c.(1993-1995)Ctg>Ttg	p.L665L	PPARGC1B_ENST00000360453.4_Silent_p.L626L|PPARGC1B_ENST00000394320.3_Silent_p.L665L|PPARGC1B_ENST00000403750.1_Silent_p.L601L	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	665					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AAGTGAGCTCCTGTCCCACCT	0.627000													10	49					0	0	0.006214	0	0
LOC101927237	101927237	broad.mit.edu	37	4	68311853	68311855	+	RNA	DEL	GAG	GAG	-			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr4:68311853_68311855delGAG	ENST00000502400.1	-	0	34																											TCTCTATGGCGAGGAGGAGGAGG	0.547													2	4	---	---	---	---					
DNAH5	1767	broad.mit.edu	37	5	13830871	13830886	+	Splice_Site	DEL	GCGTGATGTAACATCT	GCGTGATGTAACATCT	-			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:13830871_13830886delGCGTGATGTAACATCT	ENST00000265104.4	-	36	5987_6000	c.5882_splice	c.e36-1	p.R1961_splice		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1961	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)					GCTTGAGCCAGCGTGATGTAACATCTGCATGGGTAG	0.500									Kartagener syndrome				9	73	---	---	---	---					
MROH2B	133558	broad.mit.edu	37	5	41039555	41039555	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:41039555delA	ENST00000399564.4	-	20	2506	c.2056delT	c.(2056-2058)gtfs	p.C686fs	MROH2B_ENST00000506092.2_Frame_Shift_Del_p.C241fs	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CTTACCTTACATCGATTCATG	0.323													2	4	---	---	---	---					
BCL11B	64919	broad.mit.edu	37	14	99641544	99641546	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr14:99641544_99641546delCTC	ENST00000345514.2	-	3	1680_1682	c.1414_1416delGAG	c.(1414-1416)del	p.E472del	BCL11B_ENST00000357195.3_In_Frame_Del_p.E543del|BCL11B_ENST00000443726.2_In_Frame_Del_p.E349del	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	543						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCAGTAGCAGctcctcctcctcc	0.700			T	TLX3	T-ALL								3	5	---	---	---	---					
IGHV3-53	28420	broad.mit.edu	37	14	107049128	107049129	+	RNA	DEL	CC	CC	-			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr14:107049128_107049129delCC	ENST00000390627.2	-	0	212_213																											CATGGTGAGTCCTCTGTGTTCA	0.500													7	226	---	---	---	---					
ARL6IP1	23204	broad.mit.edu	37	16	18810024	18810024	+	Splice_Site	DEL	G	G	-			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:18810024delG	ENST00000304414.7	-	2	380	c.170_splice	c.e2+1	p.L57_splice	ARL6IP1_ENST00000546206.2_Splice_Site_p.L28_splice|RP11-1035H13.3_ENST00000567078.2_Splice_Site_p.L57_splice|ARL6IP1_ENST00000562819.1_Intron	NM_015161.1	NP_055976.1	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting protein 1	57						integral to membrane	protein binding			breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)	11						CTCACTTACAGAAACACCAAA	0.418													18	102	---	---	---	---					
SCARNA6	677772	broad.mit.edu	37	16	21598984	21598985	+	RNA	INS	-	-	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:21598984_21598985insT	ENST00000516989.1	+	0	37_38																											ccagcagcCCATTTTTTTTTTC	0.366													2	4	---	---	---	---					
KCTD1	284252	broad.mit.edu	37	18	24128262	24128264	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr18:24128262_24128264delTCC	ENST00000417602.1	-	1	236_238	c.237_239delGGA	c.(235-240)gac>ga	p.ED79del	KCTD1_ENST00000408011.3_Intron|KCTD1_ENST00000579973.1_Intron|KCTD1_ENST00000317932.7_Intron	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	0	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			cccacctccgtcctcctcctcct	0.690													2	4	---	---	---	---					
EFHC2	80258	broad.mit.edu	37	X	44023191	44023191	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chrX:44023191delG	ENST00000420999.1	-	14	2208	c.2125delC	c.(2125-2127)aafs	p.Q709fs	EFHC2_ENST00000343571.3_5'UTR	NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	709							calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						GATGCTGGTTGCAATTCAGGC	0.303													2	4	---	---	---	---