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
FAM91A1	157769	broad.mit.edu	37	8	124799928	124799928	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:124799928A>G	ENST00000334705.7	+	14	1462	c.1216A>G	c.(1216-1218)Atg>Gtg	p.M406V	FAM91A1_ENST00000521166.1_Missense_Mutation_p.M406V	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	406										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TGCAGTCACAATGTTTGAAGT	0.323000													12	42					0	0	0.479597	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256408	24256408	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:24256408C>A	ENST00000538205.1	+	10	1094	c.547C>A	c.(547-549)Caa>Aaa	p.Q183K	ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.Q183K|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.Q262K	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	262					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CATAGATGTTCAAGTGGCCTT	0.428000													7	68					5.18039e-06	6.43472e-06	0.278610	1	0
PKD1L2	114780	broad.mit.edu	37	16	81145908	81145908	+	RNA	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:81145908G>A	ENST00000533478.1	-	0	4898				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000534142.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACTGTGGACAGGAGTACCAGG	0.542000													17	75					0	0	0.557998	0	0
SP140	11262	broad.mit.edu	37	2	231090568	231090568	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:231090568G>T	ENST00000392045.3	+	1	123	c.9G>T	c.(7-9)caG>caT	p.Q3H	SP140_ENST00000343805.6_Missense_Mutation_p.Q3H|SP140_ENST00000420434.3_Missense_Mutation_p.Q3H|SP140_ENST00000350136.5_5'UTR|SP140_ENST00000373645.3_Missense_Mutation_p.Q3H|SP140_ENST00000417495.3_Missense_Mutation_p.Q3H|SP140_ENST00000486687.2_Missense_Mutation_p.Q3H	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	3					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCATGGCCCAGCAGGGCCAGC	0.582000													10	53					4.93089e-13	8.04947e-13	0.457914	1	0
OR2T2	401992	broad.mit.edu	37	1	248617043	248617043	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:248617043C>T	ENST00000342927.3	+	1	967	c.945C>T	c.(943-945)atC>atT	p.I315I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCAGAGCATCAGGGTGGCGA	0.552000													19	67					0	0	0.717897	0	0
SLC14A2	8170	broad.mit.edu	37	18	43205673	43205673	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:43205673G>C	ENST00000255226.6	+	3	992	c.176G>C	c.(175-177)aGt>aCt	p.S59T	SLC14A2_ENST00000586448.1_Missense_Mutation_p.S59T	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	59						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AATGAAGACAGTCACATTGTG	0.493000													3	39					0	0	0.150653	0	0
WASH2P	375260	broad.mit.edu	37	2	114355129	114355129	+	RNA	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:114355129G>A	ENST00000538033.2	+	0	2068																											GAGTCCATCCGCCAAGCTGGG	0.657000													3	27					0	0	0.150653	0	0
EDNRB	1910	broad.mit.edu	37	13	78493561	78493561	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr13:78493561C>A	ENST00000377211.4	-	1	342	c.190G>T	c.(190-192)Gct>Tct	p.A64S		NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	0					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	AGATGCAGAGCGACGAATGGA	0.557000											OREG0022452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	76					0.307466	0.310798	0.307466	1	0
FCRL3	115352	broad.mit.edu	37	1	157667057	157667057	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:157667057C>A	ENST00000368184.3	-	6	1008	c.717G>T	c.(715-717)tgG>tgT	p.W239C	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.W239C	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	239	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GGGACCTGCTCCAGCCCAATC	0.557000													29	121					7.04047e-22	1.34142e-21	0.812448	1	0
SYT16	83851	broad.mit.edu	37	14	62462903	62462903	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:62462903G>T	ENST00000430451.2	+	1	363	c.166G>T	c.(166-168)Gac>Tac	p.D56Y	SYT16_ENST00000446982.2_Missense_Mutation_p.D56Y	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	56										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ACTAGATCAGGACTTAGATAA	0.383000													22	104					2.44723e-14	4.10271e-14	0.681144	1	0
SEL1L2	80343	broad.mit.edu	37	20	13847494	13847494	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:13847494C>A	ENST00000284951.5	-	15	1332	c.1258G>T	c.(1258-1260)Ggc>Tgc	p.G420C	SEL1L2_ENST00000378072.5_Missense_Mutation_p.G420C|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	420						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						ATTCCAGAGCCAGCTGAAAAT	0.343000													9	59					4.68919e-08	6.42767e-08	0.361761	1	0
TSKU	25987	broad.mit.edu	37	11	76507596	76507596	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:76507596G>T	ENST00000527881.1	+	2	1962	c.936G>T	c.(934-936)caG>caT	p.Q312H	TSKU_ENST00000333090.4_Missense_Mutation_p.Q312H			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	312						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCGTGGGCCAGGATGTGCGGT	0.711000													3	10					0.150653	0.154185	0.150653	1	0
CR1	1378	broad.mit.edu	37	1	207785362	207785362	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:207785362A>T	ENST00000367049.4	+	39	6551	c.6551A>T	c.(6550-6552)aAg>aTg	p.K2184M	CR1_ENST00000367051.1_Missense_Mutation_p.K1734M|CR1_ENST00000400960.2_Missense_Mutation_p.K1734M|CR1_ENST00000367053.1_Missense_Mutation_p.K1734M|CR1_ENST00000367052.1_Missense_Mutation_p.K1734M	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1734					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTGGGGCAAAGGTGTCCTTT	0.473000													63	323					0	0	0.870114	0	0
ELTD1	64123	broad.mit.edu	37	1	79392620	79392620	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:79392620G>T	ENST00000370742.3	-	8	1097	c.1034C>A	c.(1033-1035)cCc>cAc	p.P345H		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	345					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ATATAATGTGGGTGGGTTTGA	0.333000													7	45					9.70103e-10	1.41281e-09	0.361761	1	0
PGLYRP4	57115	broad.mit.edu	37	1	153312877	153312877	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:153312877C>A	ENST00000368739.3	-	7	1150	c.792G>T	c.(790-792)aaG>aaT	p.K264N	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.K268N			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	268					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTCGCATGACTTGAGCCTGT	0.517000													20	111					7.07758e-08	9.63716e-08	0.681144	1	0
EIF2AK2	5610	broad.mit.edu	37	2	37365452	37365452	+	Silent	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:37365452A>G	ENST00000233057.4	-	8	970	c.648T>C	c.(646-648)aaT>aaC	p.N216N	EIF2AK2_ENST00000395127.2_Silent_p.N216N|EIF2AK2_ENST00000405334.1_Silent_p.N216N	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	216					evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				CACTGTTAGAATTTATCTCTG	0.338000													13	96					0	0	0.479597	0	0
NUBPL	80224	broad.mit.edu	37	14	32257003	32257003	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:32257003G>T	ENST00000281081.7	+	7	576	c.531G>T	c.(529-531)ctG>ctT	p.L177L	NUBPL_ENST00000418681.2_3'UTR|NUBPL_ENST00000536705.1_Silent_p.L81L	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	177					mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding			endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		GGGGTCAACTGGACTACTTAG	0.313000													12	84					3.27435e-08	4.50938e-08	0.457914	1	0
CD101	9398	broad.mit.edu	37	1	117568280	117568280	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:117568280A>T	ENST00000256652.4	+	8	2636	c.2578A>T	c.(2578-2580)Aaa>Taa	p.K860*	CD101_ENST00000369470.1_Nonsense_Mutation_p.K860*|RP11-27K13.3_ENST00000445523.1_RNA	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	860	Ig-like C2-type 7.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTCTGGAAGTAAATTGCTGGT	0.527000													5	94					0	0	0.278610	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68938040	68938040	+	Splice_Site	SNP	C	C	A	rs148214799		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:68938040C>A	ENST00000356291.2	-	5	574		c.e5+1		RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F						proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						AAAAGACTTACGTGTGAGTCT	0.269000													12	37					9.05144e-12	1.42874e-11	0.435327	1	0
OR2T10	127069	broad.mit.edu	37	1	248756461	248756461	+	Silent	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:248756461A>G	ENST00000330500.2	-	1	639	c.609T>C	c.(607-609)tgT>tgC	p.C203C		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCATGATGACACAGCACAAGT	0.443000													12	77					0	0	0.457914	0	0
KCNT1	57582	broad.mit.edu	37	9	138651660	138651660	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:138651660G>T	ENST00000298480.5	+	11	1064	c.990G>T	c.(988-990)ctG>ctT	p.L330L	KCNT1_ENST00000488444.2_Silent_p.L311L|KCNT1_ENST00000371757.2_Silent_p.L330L|KCNT1_ENST00000486577.2_Silent_p.L291L|KCNT1_ENST00000491806.2_Silent_p.L297L|KCNT1_ENST00000490355.2_Silent_p.L311L|KCNT1_ENST00000263604.3_Silent_p.L311L|KCNT1_ENST00000487664.1_Silent_p.L285L			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	330						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CGCAGCTGCTGGTGGTCATCA	0.632000													7	62					0.000157383	0.000181637	0.278610	1	0
DDHD2	23259	broad.mit.edu	37	8	38091960	38091960	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:38091960A>C	ENST00000397166.2	+	3	794	c.269A>C	c.(268-270)gAt>gCt	p.D90A	DDHD2_ENST00000520272.2_Missense_Mutation_p.D90A	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	90	WWE.				lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GGCAGATATGATGTTCATTTG	0.428000													62	183					0	0	0.870114	0	0
CTSS	1520	broad.mit.edu	37	1	150727501	150727501	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:150727501C>A	ENST00000368985.3	-	4	635	c.375G>T	c.(373-375)ggG>ggT	p.G125G	CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Intron	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	125					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			CAGTAACACACCCTTTCTCTC	0.428000													59	187					4.37588e-27	8.76885e-27	0.870114	1	0
ENPP3	5169	broad.mit.edu	37	6	131996220	131996220	+	Splice_Site	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:131996220A>T	ENST00000414305.1	+	10	1091	c.762_splice	c.e10-1	p.M255_splice	ENPP3_ENST00000543135.1_Splice_Site_p.M221_splice|ENPP3_ENST00000427148.2_3'UTR|ENPP3_ENST00000358229.5_Splice_Site_p.M255_splice|ENPP3_ENST00000357639.3_Splice_Site_p.M255_splice			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	255	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TTTCTTACAGATGTGGCTGAC	0.383000													3	44					0	0	0.150653	0	0
HOMEZ	57594	broad.mit.edu	37	14	23744965	23744965	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:23744965C>A	ENST00000357460.5	-	2	1636	c.1472G>T	c.(1471-1473)aGc>aTc	p.S491I	HOMEZ_ENST00000561013.1_Missense_Mutation_p.S493I|HOMEZ_ENST00000431326.2_Missense_Mutation_p.S493I	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	491						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CTGCTGGGTGCTAAGCCTTGA	0.527000													15	32					3.52763e-06	4.40043e-06	0.520397	1	0
CHAT	1103	broad.mit.edu	37	10	50872881	50872881	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:50872881G>T	ENST00000395562.2	+	16	2259	c.1790G>T	c.(1789-1791)gGt>gTt	p.G597V	CHAT_ENST00000351556.3_Missense_Mutation_p.G561V|CHAT_ENST00000337653.2_Missense_Mutation_p.G679V|CHAT_ENST00000455728.2_Intron|CHAT_ENST00000339797.1_Missense_Mutation_p.G561V|CHAT_ENST00000395559.2_Missense_Mutation_p.G561V	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	679					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	AATGGGTATGGTGCCTGCTAC	0.522000													60	350					8.27458e-37	1.72031e-36	0.870114	1	0
IL22RA1	58985	broad.mit.edu	37	1	24463757	24463757	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:24463757C>A	ENST00000270800.1	-	3	257	c.219G>T	c.(217-219)cgG>cgT	p.R73R		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	73	Fibronectin type-III 1.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TCCGGGTGATCCGCTGACAGC	0.632000													33	124					8.16277e-20	1.52411e-19	0.827153	1	0
SNORD114-26	767606	broad.mit.edu	37	14	101453412	101453412	+	RNA	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:101453412G>T	ENST00000363543.1	+	0	30					NR_003219.1																						GGTGGAGTATGAGTCACATAC	0.393000													25	124					7.91308e-09	1.11522e-08	0.827153	1	0
TMEM132A	54972	broad.mit.edu	37	11	60696178	60696178	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:60696178G>T	ENST00000005286.4	+	4	765	c.612G>T	c.(610-612)gaG>gaT	p.E204D	TMEM132A_ENST00000453848.2_Missense_Mutation_p.E204D	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	204						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CACGGGCCGAGCTGGCCTACA	0.682000													5	50					0.00198382	0.00217109	0.248553	1	0
PCDH15	65217	broad.mit.edu	37	10	55582241	55582241	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:55582241G>A	ENST00000361849.3	-	34	5645	c.5251C>T	c.(5251-5253)Cct>Tct	p.P1751S	PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1749S|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1680S|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1746S|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1726S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1709S|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395446.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1749	Poly-Pro.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ggaggaggagggggaagggga	0.463000										HNSCC(58;0.16)			5	26					0	0	0.248553	0	0
FBXL7	23194	broad.mit.edu	37	5	15616168	15616168	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:15616168G>A	ENST00000504595.1	+	2	595	c.114G>A	c.(112-114)gtG>gtA	p.V38V	FBXL7_ENST00000329673.7_Silent_p.V26V|FBXL7_ENST00000510662.1_5'UTR	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	38					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						AGAAGAATGTGGCTACCAGCG	0.478000													12	63					0	0	0.435327	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512912	68512912	+	Silent	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:68512912C>G	ENST00000370981.1	-	4	705	c.69G>C	c.(67-69)ctG>ctC	p.L23L	DIRAS3_ENST00000395201.1_Silent_p.L23L|GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	23					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGAGGATAAGCAGGGCGGGCA	0.587000													12	42					0	0	0.500413	0	0
MIR517C	574492	broad.mit.edu	37	19	54244587	54244587	+	RNA	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:54244587C>T	ENST00000385103.1	+	0	21					NR_030214.1																						GGCAGTGACCCTCTAGATGGA	0.368000													59	91					0	0	0.870114	0	0
TOMM40	10452	broad.mit.edu	37	19	45404028	45404028	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:45404028C>T	ENST00000592434.1	+	7	778	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L	TOMM40_ENST00000426677.2_Silent_p.L229L|TOMM40_ENST00000252487.5_Silent_p.L229L|TOMM40_ENST00000405636.2_Silent_p.L229L			O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	229					protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		CACGCCTTGCCTGGCCCTGGG	0.602000													22	117					0	0	0.654019	0	0
LHX2	9355	broad.mit.edu	37	9	126777630	126777630	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:126777630G>T	ENST00000373615.4	+	3	1292	c.553G>T	c.(553-555)Gac>Tac	p.D185Y		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	185						nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						CAACCATGCCGACGTGGCAGC	0.692000													4	34					0.014758	0.0156261	0.184627	1	0
TSNARE1	203062	broad.mit.edu	37	8	143395757	143395757	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:143395757C>A	ENST00000519651.1	-	7	562	c.459G>T	c.(457-459)agG>agT	p.R153S	TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000307180.3_Missense_Mutation_p.R373S|TSNARE1_ENST00000524325.1_Missense_Mutation_p.R372S|TSNARE1_ENST00000520166.1_Missense_Mutation_p.R372S			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	373					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GTTTACTGCCCCTCTGCGCCA	0.547000													10	33					7.05477e-17	1.25445e-16	0.520397	1	0
MC2R	4158	broad.mit.edu	37	18	13884960	13884960	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:13884960C>A	ENST00000327606.3	-	2	738	c.558G>T	c.(556-558)ctG>ctT	p.L186L		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	186					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GGATGAAGACCAGCATCAGCG	0.562000													9	107					1.58986e-06	2.02508e-06	0.361761	1	0
RPE65	6121	broad.mit.edu	37	1	68910291	68910291	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:68910291C>A	ENST00000262340.5	-	5	471	c.418G>T	c.(418-420)Ggg>Tgg	p.G140W		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	140					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						TAATCTTCCCCCACTGGGTAG	0.403000													26	83					2.41591e-17	4.32587e-17	0.681144	1	0
ZNF518B	85460	broad.mit.edu	37	4	10446725	10446725	+	Missense_Mutation	SNP	C	C	A	rs144393783	byFrequency	TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:10446725C>A	ENST00000326756.3	-	3	1666	c.1228G>T	c.(1228-1230)Ggg>Tgg	p.G410W		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CCAACATTCCCGTCAACTGTC	0.363000													29	133					4.4194e-11	6.79297e-11	0.769981	1	0
C15orf59	388135	broad.mit.edu	37	15	74032374	74032374	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:74032374G>T	ENST00000569673.1	-	3	1970	c.766C>A	c.(766-768)Cct>Act	p.P256T	C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Missense_Mutation_p.P256T			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	256										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GTCTGTTCAGGGGCCAAGGTA	0.617000													34	181					1.07121e-22	2.06202e-22	0.827153	1	0
IFFO2	126917	broad.mit.edu	37	1	19236939	19236939	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:19236939T>C	ENST00000455833.2	-	8	1698	c.1345A>G	c.(1345-1347)Atg>Gtg	p.M449V	RP13-279N23.2_ENST00000494072.3_Missense_Mutation_p.H227R	NM_001136265.1	NP_001129737.1	Q5TF58	IFFO2_HUMAN	intermediate filament family orphan 2	449										endometrium(1)|kidney(1)	2						TGTCGGTTCATGTCACTTTTG	0.582000													6	33					0	0	0.278610	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15871179	15871179	+	RNA	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:15871179C>A	ENST00000587443.2	-	0	1433					NR_033864.1																						GCAGCGTCAGCGCCAGGACCA	0.657000													3	10					0.115264	0.118498	0.115264	1	0
KRT23	25984	broad.mit.edu	37	17	39081745	39081745	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:39081745G>T	ENST00000209718.3	-	7	1427	c.1003C>A	c.(1003-1005)Cac>Aac	p.H335N	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Missense_Mutation_p.H198N	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	335	Coil 2.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TCCTCATAGTGGGAGATGATC	0.488000													8	46					6.5536e-12	1.04491e-11	0.278610	1	0
ACTR6	64431	broad.mit.edu	37	12	100604119	100604119	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:100604119A>T	ENST00000188312.2	+	6	1327	c.562A>T	c.(562-564)Ata>Tta	p.I188L	ACTR6_ENST00000546902.1_Missense_Mutation_p.I106L|ACTR6_ENST00000552376.1_Missense_Mutation_p.I188L|ACTR6_ENST00000551617.1_Missense_Mutation_p.I106L	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	188						cytoplasm|cytoskeleton				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						AAAGGAGATCATATCTTACAG	0.373000													12	64					0	0	0.500413	0	0
MUC16	94025	broad.mit.edu	37	19	9091425	9091425	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:9091425C>T	ENST00000397910.4	-	1	593	c.390G>A	c.(388-390)agG>agA	p.R130R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	130	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						TGGTCCTGGTCCTTGGGGAAC	0.502000													23	66					0	0	0.693898	0	0
LAMC3	10319	broad.mit.edu	37	9	133960987	133960987	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:133960987C>A	ENST00000361069.4	+	25	4240	c.4107C>A	c.(4105-4107)ctC>ctA	p.L1369L	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1369	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GTGACAGACTCCTTGCAGACA	0.597000													10	73					1.58986e-06	2.02508e-06	0.361761	1	0
SEZ6L	23544	broad.mit.edu	37	22	26688446	26688446	+	Translation_Start_Site	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:26688446C>A	ENST00000402979.1	+	0	230				SEZ6L_ENST00000248933.6_Missense_Mutation_p.P57T|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P57T|SEZ6L_ENST00000403121.1_De_novo_Start_OutOfFrame|SEZ6L_ENST00000529632.2_Missense_Mutation_p.P57T|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P57T|SEZ6L_ENST00000343706.4_Missense_Mutation_p.P57T			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like							endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GAGAGGCAGTCCTGGCAAAGA	0.612000													11	37					0.0167234	0.0176889	0.435327	1	0
PCDHB12	56124	broad.mit.edu	37	5	140589197	140589197	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:140589197C>A	ENST00000239450.2	+	1	907	c.718C>A	c.(718-720)Cct>Act	p.P240T	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		240	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGACAACTCCCCTGAGTTTGA	0.522000													32	75					3.33393e-15	5.70103e-15	0.804634	1	0
BCHE	590	broad.mit.edu	37	3	165548726	165548726	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:165548726G>T	ENST00000264381.3	-	2	262	c.96C>A	c.(94-96)atC>atA	p.I32I	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	32			Missing (in BChE deficiency).		choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TTGCAATTATGATGTCATCTT	0.403000													14	51					3.45872e-05	4.15289e-05	0.500413	1	0
GPAM	57678	broad.mit.edu	37	10	113928217	113928217	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:113928217C>A	ENST00000348367.4	-	11	1157	c.960G>T	c.(958-960)agG>agT	p.R320S	GPAM_ENST00000369425.1_Missense_Mutation_p.R320S|GPAM_ENST00000423155.1_Missense_Mutation_p.R320S			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	320					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TTTTTCCACTCCTAGAACGTG	0.413000													15	119					1.96292e-10	2.91878e-10	0.592651	1	0
LRP6	4040	broad.mit.edu	37	12	12332829	12332829	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:12332829G>T	ENST00000261349.4	-	7	1536	c.1460C>A	c.(1459-1461)aCt>aAt	p.T487N	LRP6_ENST00000543091.1_Missense_Mutation_p.T487N	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	487	Beta-propeller 2.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ACCAAGAGAAGTGTTAACCAA	0.418000													8	74					7.48243e-07	9.66873e-07	0.335167	1	0
PML	5371	broad.mit.edu	37	15	74290784	74290784	+	Missense_Mutation	SNP	C	C	G	rs138345086		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:74290784C>G	ENST00000565898.1	+	2	653	c.569C>G	c.(568-570)tCc>tGc	p.S190C	PML_ENST00000564428.1_Missense_Mutation_p.S190C|PML_ENST00000569965.1_Missense_Mutation_p.S190C|PML_ENST00000268058.3_Missense_Mutation_p.S190C|PML_ENST00000395135.3_Missense_Mutation_p.S190C|PML_ENST00000354026.6_Missense_Mutation_p.S190C|PML_ENST00000359928.4_Missense_Mutation_p.S190C|PML_ENST00000268059.6_Missense_Mutation_p.S190C|PML_ENST00000435786.2_Missense_Mutation_p.S190C|PML_ENST00000436891.3_Missense_Mutation_p.S190C|PML_ENST00000563500.1_Missense_Mutation_p.S190C|PML_ENST00000395132.2_Missense_Mutation_p.S190C|PML_ENST00000569477.1_Missense_Mutation_p.S190C|PML_ENST00000567543.1_Missense_Mutation_p.S190C			P29590	PML_HUMAN	promyelocytic leukemia	190					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						ATCTTCTGCTCCAACCCCAAC	0.627000			T	"""RARA, PAX5"""	"""APL, ALL"""								16	91					0	0	0.624587	0	0
CAMK2D	817	broad.mit.edu	37	4	114458560	114458560	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:114458560C>A	ENST00000454265.2	-	7	1312	c.454G>T	c.(454-456)Gct>Tct	p.A152S	CAMK2D_ENST00000514328.1_Missense_Mutation_p.A152S|CAMK2D_ENST00000511664.1_Missense_Mutation_p.A152S|CAMK2D_ENST00000296402.5_Missense_Mutation_p.A152S|CAMK2D_ENST00000394522.3_Missense_Mutation_p.A152S|CAMK2D_ENST00000418639.2_Missense_Mutation_p.A152S|CAMK2D_ENST00000342666.5_Missense_Mutation_p.A152S|CAMK2D_ENST00000379773.2_Missense_Mutation_p.A152S|CAMK2D_ENST00000505990.1_Missense_Mutation_p.A152S|CAMK2D_ENST00000394526.2_Missense_Mutation_p.A152S|CAMK2D_ENST00000508738.1_Missense_Mutation_p.A152S|CAMK2D_ENST00000429180.1_Missense_Mutation_p.A152S|CAMK2D_ENST00000394524.3_Missense_Mutation_p.A152S|CAMK2D_ENST00000515496.1_Missense_Mutation_p.A152S			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	152	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		AATTTCACAGCTGCTCCCTTG	0.433000													12	45					0.000422831	0.000479365	0.500413	1	0
LIPI	149998	broad.mit.edu	37	21	15535754	15535754	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr21:15535754G>C	ENST00000344577.2	-	7	1080	c.1055C>G	c.(1054-1056)aCa>aGa	p.T352R	LIPI_ENST00000536861.1_Missense_Mutation_p.T331R	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	331					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GAATGGATATGTACCACTTGT	0.313000													6	54					0	0	0.335167	0	0
KCNB1	3745	broad.mit.edu	37	20	47990541	47990541	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:47990541G>C	ENST00000371741.4	-	2	1722	c.1556C>G	c.(1555-1557)tCt>tGt	p.S519C		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	519	Poly-Ser.				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTGAGGACTAGAAGACGATCT	0.468000													16	291					0	0	0.575678	0	0
PWP2	5822	broad.mit.edu	37	21	45540641	45540641	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr21:45540641G>A	ENST00000291576.7	+	12	1594	c.1467G>A	c.(1465-1467)caG>caA	p.Q489Q		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	489						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GGTCCATGCAGACAGGCAGGC	0.637000													9	86					0	0	0.361761	0	0
ATF7IP	55729	broad.mit.edu	37	12	14578095	14578095	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:14578095G>T	ENST00000544627.1	+	2	1590	c.1270G>T	c.(1270-1272)Gaa>Taa	p.E424*	ATF7IP_ENST00000540793.1_Nonsense_Mutation_p.E416*|ATF7IP_ENST00000261168.4_Nonsense_Mutation_p.E416*|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Nonsense_Mutation_p.E416*|ATF7IP_ENST00000543189.1_Nonsense_Mutation_p.E416*			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	416	Glu-rich.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AAATGTTATTGAAGATAACAA	0.333000													4	21					2.56e-06	3.22277e-06	0.150653	1	0
ZNF333	84449	broad.mit.edu	37	19	14810033	14810033	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:14810033C>T	ENST00000292530.6	+	5	337	c.246C>T	c.(244-246)ccC>ccT	p.P82P	ZNF333_ENST00000601134.1_Intron|ZNF333_ENST00000540689.2_Silent_p.P82P|ZNF333_ENST00000536363.1_5'UTR|ZNF333_ENST00000601629.1_3'UTR	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	82					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						AACTTAAACCCGAAGAGTTGC	0.418000													24	170					0	0	0.750413	0	0
KRT34	3885	broad.mit.edu	37	17	39538423	39538423	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:39538423A>T	ENST00000394001.1	-	1	232	c.202T>A	c.(202-204)Tgc>Agc	p.C68S		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	68	Head.				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)				TAGCCGTGGCAGCTGGGGGGC	0.622000													6	99					0	0	0.217242	0	0
ZNF221	7638	broad.mit.edu	37	19	44469442	44469442	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:44469442A>T	ENST00000251269.5	+	5	594	c.266A>T	c.(265-267)aAg>aTg	p.K89M	ZNF221_ENST00000587682.1_Missense_Mutation_p.K89M|ZNF221_ENST00000592350.1_Missense_Mutation_p.K89M	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	89	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)				AAGTTTTGGAAGATGAAGACA	0.418000													9	70					0	0	0.387290	0	0
NWD1	284434	broad.mit.edu	37	19	16860134	16860134	+	Silent	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:16860134C>G	ENST00000524140.2	+	6	1099	c.681C>G	c.(679-681)ctC>ctG	p.L227L	NWD1_ENST00000552788.1_Silent_p.L227L|NWD1_ENST00000549814.1_Silent_p.L227L|NWD1_ENST00000379808.3_Silent_p.L227L|NWD1_ENST00000339803.6_Silent_p.L92L|NWD1_ENST00000523826.1_Silent_p.L21L	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	227							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCAGCAGCCTCAAAAGTCACA	0.597000													17	77					0	0	0.539581	0	0
DDX10	1662	broad.mit.edu	37	11	108594025	108594025	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:108594025G>T	ENST00000526794.1	+	13	1833	c.1801G>T	c.(1801-1803)Gga>Tga	p.G601*	DDX10_ENST00000322536.3_Nonsense_Mutation_p.G601*			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	601							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	p.E594_E618del(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		AAAAGCAAAAGGATCTCAAGC	0.443000			T	NUP98	AML*								4	23					0.014758	0.0156261	0.184627	1	0
TSPEAR	54084	broad.mit.edu	37	21	45953684	45953684	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr21:45953684C>A	ENST00000323084.4	-	3	491	c.426G>T	c.(424-426)caG>caT	p.Q142H	TSPEAR_ENST00000397916.1_Missense_Mutation_p.Q74H	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	142	TSP N-terminal.				cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						ACACTCGGGTCTGCCAGGCGC	0.687000													14	33					7.07596e-05	8.2876e-05	0.539581	1	0
GUCY1B3	2983	broad.mit.edu	37	4	156723469	156723469	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:156723469G>T	ENST00000507146.1	+	11	1576	c.1076G>T	c.(1075-1077)gGc>gTc	p.G359V	GUCY1B3_ENST00000264424.8_Intron|GUCY1B3_ENST00000505154.1_Intron|GUCY1B3_ENST00000513437.1_Intron|GUCY1B3_ENST00000502959.1_Intron|GUCY1B3_ENST00000503520.1_Intron|GUCY1B3_ENST00000505764.1_Intron			Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	392					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		TCTTACAGTGGCTTTCTGCTG	0.478000													7	39					0.00198382	0.00217109	0.248553	1	0
ITIH2	3698	broad.mit.edu	37	10	7749193	7749193	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:7749193G>A	ENST00000358415.4	+	3	355	c.189G>A	c.(187-189)atG>atA	p.M63I	ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Intron	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	63	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CGGAAGAAATGATGGTAAGTT	0.368000													12	70					0	0	0.457914	0	0
NQO2	4835	broad.mit.edu	37	6	3012880	3012880	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:3012880T>G	ENST00000338130.2	+	7	987	c.275T>G	c.(274-276)gTt>gGt	p.V92G	NQO2_ENST00000380454.4_Missense_Mutation_p.V92G|NQO2_ENST00000380441.1_Missense_Mutation_p.V92G|NQO2_ENST00000380430.1_Missense_Mutation_p.V92G|NQO2_ENST00000380455.4_Missense_Mutation_p.V92G			P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	92						cytoplasm|nucleus	coenzyme binding|dihydronicotinamide riboside quinone reductase activity|electron carrier activity|metal ion binding|NADPH dehydrogenase (quinone) activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Menadione(DB00170)|NADH(DB00157)	CAGAAAAAGGTTCGGGAGGCT	0.378000													13	62					0	0	0.500413	0	0
TRPV5	56302	broad.mit.edu	37	7	142622830	142622830	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:142622830G>A	ENST00000265310.1	-	8	1264	c.916C>T	c.(916-918)Caa>Taa	p.Q306*	TRPV5_ENST00000442623.1_Nonsense_Mutation_p.Q306*	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	306					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)					TCCAGAATTTGGCGAGCCTGG	0.542000													3	38					0	0	0.150653	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29493345	29493345	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:29493345C>T	ENST00000283351.4	-	5	1093	c.758G>A	c.(757-759)aGt>aAt	p.S253N	TRAPPC8_ENST00000582513.1_Missense_Mutation_p.S253N|TRAPPC8_ENST00000582539.1_Missense_Mutation_p.S199N	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	253					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTTTTGAATACTATTTTTCTG	0.303000													44	42					0	0	0.870114	0	0
UPB1	51733	broad.mit.edu	37	22	24898153	24898153	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:24898153C>T	ENST00000413389.2	+	3	1725	c.132C>T	c.(130-132)gtC>gtT	p.V44V	UPB1_ENST00000326010.5_Silent_p.V112V|UPB1_ENST00000382760.2_Silent_p.V112V			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	112					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)					TGTGTGGAGTCAACATCATCT	0.418000													40	181					0	0	0.870114	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49363704	49363704	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:49363704C>A	ENST00000263265.6	-	6	934	c.379G>T	c.(379-381)Ggc>Tgc	p.G127C	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.G127C	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	127	PH.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GTCCTCATGCCCGGGTGCTCT	0.642000													14	54					2.31682e-05	2.78671e-05	0.479597	1	0
CD209	30835	broad.mit.edu	37	19	7810766	7810766	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:7810766C>T	ENST00000315599.7	-	4	408	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	CD209_ENST00000602261.1_Missense_Mutation_p.R129Q|CD209_ENST00000601951.1_Missense_Mutation_p.R105Q|CD209_ENST00000601256.1_Missense_Mutation_p.R105Q|CD209_ENST00000593821.1_Missense_Mutation_p.R85Q|CD209_ENST00000315591.8_Missense_Mutation_p.R105Q|CD209_ENST00000593660.1_Missense_Mutation_p.R105Q|CD209_ENST00000394173.4_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.R129Q|CD209_ENST00000301357.8_Missense_Mutation_p.R85Q|CD209_ENST00000204801.8_Missense_Mutation_p.R85Q	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCCTTCAGCCGGGTCAGCTC	0.567000													4	188					0	0	0.150653	0	0
PRB4	5545	broad.mit.edu	37	12	11461760	11461760	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:11461760G>A	ENST00000279575.1	-	3	190	c.157C>T	c.(157-159)Cct>Tct	p.P53S	PRB4_ENST00000445719.2_Missense_Mutation_p.P53S|PRB4_ENST00000535904.1_Missense_Mutation_p.P53S	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	53	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TTTCCTGGAGGAGGTGGGGGA	0.607000										HNSCC(22;0.051)			48	244					0	0	0.870114	0	0
KCTD16	57528	broad.mit.edu	37	5	143586838	143586838	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:143586838G>T	ENST00000507359.2	+	2	1652	c.561G>T	c.(559-561)cgG>cgT	p.R187R	KCTD16_ENST00000512467.1_Silent_p.R187R	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	187						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CCAAGTTTCGGAGAGTTCCCC	0.522000													10	43					1.08611e-07	1.4624e-07	0.387290	1	0
HMCN1	83872	broad.mit.edu	37	1	186094788	186094788	+	Silent	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:186094788A>G	ENST00000271588.4	+	82	12781	c.12552A>G	c.(12550-12552)tcA>tcG	p.S4184S	HMCN1_ENST00000367492.2_Silent_p.S4184S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4184	Ig-like C2-type 41.				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						ATGAGAATTCACAAGCCATTC	0.398000													13	61					0	0	0.479597	0	0
CSMD3	114788	broad.mit.edu	37	8	113871424	113871424	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:113871424C>T	ENST00000297405.5	-	11	1949	c.1705G>A	c.(1705-1707)Gac>Aac	p.D569N	CSMD3_ENST00000455883.2_Missense_Mutation_p.D465N|CSMD3_ENST00000352409.3_Missense_Mutation_p.D569N|CSMD3_ENST00000343508.3_Missense_Mutation_p.D529N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	569	CUB 3.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCATTGCTGTCATACTGGAAC	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	141					0	0	0.387290	0	0
CDH17	1015	broad.mit.edu	37	8	95178027	95178027	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:95178027G>T	ENST00000027335.3	-	10	1368	c.1244C>A	c.(1243-1245)aCt>aAt	p.T415N	CDH17_ENST00000450165.2_Missense_Mutation_p.T415N|CDH17_ENST00000441892.2_Missense_Mutation_p.T201N	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	415	Cadherin 4.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GTACTGAGGAGTATCTTGCTT	0.408000													46	103					1.19403e-26	2.38807e-26	0.870114	1	0
TYR	7299	broad.mit.edu	37	11	88911921	88911921	+	Nonsense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:88911921C>G	ENST00000263321.5	+	1	1302	c.800C>G	c.(799-801)tCa>tGa	p.S267*	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	267					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	AGCCCAGCATCATTCTTCTCC	0.463000													12	95					0	0	0.500413	0	0
ATP2C1	27032	broad.mit.edu	37	3	130714886	130714886	+	Splice_Site	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:130714886G>T	ENST00000510168.1	+	23	2607		c.e23-1		ATP2C1_ENST00000513801.1_Splice_Site|ATP2C1_ENST00000393221.4_Splice_Site|ATP2C1_ENST00000359644.3_Splice_Site|ATP2C1_ENST00000428331.2_Splice_Site|ATP2C1_ENST00000328560.8_Splice_Site|ATP2C1_ENST00000505330.1_Splice_Site|ATP2C1_ENST00000504948.1_Splice_Site|ATP2C1_ENST00000507488.2_Splice_Site|ATP2C1_ENST00000504381.1_Splice_Site|ATP2C1_ENST00000533801.2_Splice_Site|ATP2C1_ENST00000422190.2_Splice_Site|ATP2C1_ENST00000508532.1_Splice_Site			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1						actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TTAAATTTCAGGTCTGCAATC	0.294000									Hailey-Hailey disease				19	93					1.64113e-05	1.99267e-05	0.592651	1	0
LIMS2	55679	broad.mit.edu	37	2	128412416	128412416	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:128412416A>G	ENST00000409455.1	-	3	846	c.211T>C	c.(211-213)Tgt>Cgt	p.C71R	LIMS2_ENST00000410011.1_Missense_Mutation_p.C71R|LIMS2_ENST00000409808.2_Missense_Mutation_p.C71R|LIMS2_ENST00000545738.2_Missense_Mutation_p.C98R|LIMS2_ENST00000324938.5_Missense_Mutation_p.C100R|LIMS2_ENST00000355119.4_Missense_Mutation_p.C76R			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	76	LIM zinc-binding 1.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CAGGATCCACAGCACGGAGCA	0.597000													6	73					0	0	0.387290	0	0
WAC	51322	broad.mit.edu	37	10	28899726	28899726	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:28899726C>G	ENST00000375664.3	+	9	1738	c.1129C>G	c.(1129-1131)Caa>Gaa	p.Q377E	WAC_ENST00000347934.4_Missense_Mutation_p.Q319E|WAC_ENST00000354911.4_Missense_Mutation_p.Q422E|WAC_ENST00000375646.1_Missense_Mutation_p.Q270E|WAC_ENST00000428935.1_Missense_Mutation_p.Q377E			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	422					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TCTGATTTCTCAAGCTGCTCA	0.378000													19	131					0	0	0.639603	0	0
RNF157	114804	broad.mit.edu	37	17	74155589	74155589	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:74155589G>A	ENST00000269391.6	-	12	1263	c.1131C>T	c.(1129-1131)ctC>ctT	p.L377L	RNF157_ENST00000319945.6_Silent_p.L377L	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	377							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GGGACGGGGTGAGGGGCCCGT	0.537000													18	82					0	0	0.654019	0	0
LAMA2	3908	broad.mit.edu	37	6	129618948	129618948	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:129618948C>A	ENST00000421865.2	+	21	3024	c.2975C>A	c.(2974-2976)aCa>aAa	p.T992K		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	992	Laminin EGF-like 10.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCTGGAGTCACAGGGAAGAAA	0.478000													8	28					5.18039e-06	6.43472e-06	0.278610	1	0
PLXND1	23129	broad.mit.edu	37	3	129288694	129288694	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:129288694G>A	ENST00000393239.1	-	20	4035	c.3857C>T	c.(3856-3858)tCc>tTc	p.S1286F	PLXND1_ENST00000324093.4_Missense_Mutation_p.S1286F			Q9Y4D7	PLXD1_HUMAN	plexin D1	1286					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						ACCCACCACGGAGAGCAGCAG	0.622000													4	66					0	0	0.150653	0	0
ABCA10	10349	broad.mit.edu	37	17	67188717	67188717	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:67188717C>A	ENST00000269081.4	-	17	2767	c.1858G>T	c.(1858-1860)Gga>Tga	p.G620*	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	620	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AAATGATATCCAATACCCCAC	0.328000													18	104					4.35082e-09	6.19991e-09	0.592651	1	0
C1QL3	389941	broad.mit.edu	37	10	16562527	16562527	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:16562527G>T	ENST00000298943.3	-	1	1477	c.538C>A	c.(538-540)Cgc>Agc	p.R180S		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	180	C1q.					collagen				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TCCCCTCCGCGCATCAGGACG	0.657000													10	64					1.58986e-06	2.02508e-06	0.361761	1	0
CUEDC1	404093	broad.mit.edu	37	17	55962651	55962651	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:55962651C>A	ENST00000577830.1	-	2	688	c.275G>T	c.(274-276)gGt>gTt	p.G92V	CUEDC1_ENST00000407144.2_Missense_Mutation_p.G92V|CUEDC1_ENST00000360238.2_Missense_Mutation_p.G92V|CUEDC1_ENST00000577840.1_Intron	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	92										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						GCTGCTGCCACCGCCCTCCAG	0.647000													10	78					2.27111e-07	3.01639e-07	0.411799	1	0
SIDT1	54847	broad.mit.edu	37	3	113320482	113320482	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:113320482G>C	ENST00000264852.4	+	11	1819	c.1093G>C	c.(1093-1095)Gaa>Caa	p.E365Q	SIDT1_ENST00000393830.3_Missense_Mutation_p.E365Q	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	365						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CAGCACACCCGAAGGGAGCAA	0.428000													7	30					0	0	0.335167	0	0
SYNE1	23345	broad.mit.edu	37	6	152523046	152523046	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:152523046C>A	ENST00000367255.5	-	127	23659	c.23058G>T	c.(23056-23058)ctG>ctT	p.L7686L	SYNE1_ENST00000341594.5_Silent_p.L7298L|SYNE1_ENST00000356820.4_Silent_p.L2210L|SYNE1_ENST00000265368.4_Silent_p.L7686L|SYNE1_ENST00000423061.1_Silent_p.L7615L|SYNE1_ENST00000448038.1_Silent_p.L7615L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7686					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTAGTTTCTCCAGGGAATCTG	0.413000										HNSCC(10;0.0054)			8	39					0.000442599	0.000499293	0.335167	1	0
CUBN	8029	broad.mit.edu	37	10	16893278	16893278	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:16893278C>A	ENST00000377833.4	-	60	9684	c.9619G>T	c.(9619-9621)Gag>Tag	p.E3207*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3207	CUB 24.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTTGCTGCCTCCAGAGCAAAT	0.348000													9	67					3.07112e-06	3.8403e-06	0.387290	1	0
SLC12A5	57468	broad.mit.edu	37	20	44670122	44670122	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:44670122C>A	ENST00000454036.1	+	8	1154	c.1078C>A	c.(1078-1080)Cga>Aga	p.R360R	SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Silent_p.R337R	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	360					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATACTTCACCCGAAACAATGT	0.577000													18	116					1.28384e-07	1.72524e-07	0.608945	1	0
AMELX	265	broad.mit.edu	37	X	11312895	11312895	+	Splice_Site	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:11312895A>G	ENST00000380712.3	+	2	56		c.e2-1		ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000413512.3_Intron|AMELX_ENST00000380714.3_Splice_Site|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000348912.4_Splice_Site	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN	amelogenin, X-linked						cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						CTTACATTTCAGAACCATCAA	0.403000													20	60					0	0	0.608945	0	0
RLF	6018	broad.mit.edu	37	1	40704228	40704228	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:40704228G>T	ENST00000372771.4	+	8	3881	c.3854G>T	c.(3853-3855)aGa>aTa	p.R1285I		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1285					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CAAGAAGGAAGAGAGGGCAGA	0.368000													5	49					0.184627	0.187367	0.184627	1	0
OR2D3	120775	broad.mit.edu	37	11	6942604	6942604	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:6942604G>T	ENST00000317834.3	+	1	400	c.372G>T	c.(370-372)ggG>ggT	p.G124G		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTCTGGTTGGGTGTACAGAGT	0.468000													25	150					5.90632e-09	8.36423e-09	0.760397	1	0
CNBD1	168975	broad.mit.edu	37	8	87951936	87951936	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:87951936A>T	ENST00000518476.1	+	4	436	c.385A>T	c.(385-387)Aga>Tga	p.R129*		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	129										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TAGACCAAAAAGAGCCACAGA	0.328000													6	22					0	0	0.217242	0	0
RAB11FIP2	22841	broad.mit.edu	37	10	119805663	119805663	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:119805663G>T	ENST00000355624.3	-	1	451	c.12C>A	c.(10-12)tcC>tcA	p.S4S	RAB11FIP2_ENST00000369199.3_Silent_p.S4S	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	4	C2.				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GGGCTTGCTCGGACAGCATCA	0.527000													22	132					6.07407e-21	1.14664e-20	0.717897	1	0
RFWD2	64326	broad.mit.edu	37	1	176132984	176132984	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:176132984C>A	ENST00000367669.3	-	4	1123	c.609G>T	c.(607-609)aaG>aaT	p.K203N	RFWD2_ENST00000308769.8_Missense_Mutation_p.K203N	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	203					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ATTTGAACCTCTTTTCCTCAA	0.269000													7	54					0.00621372	0.00666173	0.335167	1	0
LIFR	3977	broad.mit.edu	37	5	38490316	38490316	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:38490316T>G	ENST00000263409.4	-	15	2305	c.2143A>C	c.(2143-2145)Atg>Ctg	p.M715L	LIFR_ENST00000453190.2_Missense_Mutation_p.M715L	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	715	Fibronectin type-III 5.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TATCCAATCATGGAGCGTAAT	0.318000			T	PLAG1	salivary adenoma								4	141					0	0	0.184627	0	0
BDNF	627	broad.mit.edu	37	11	27679836	27679836	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:27679836G>T	ENST00000525528.1	-	1	1369	c.276C>A	c.(274-276)tcC>tcA	p.S92S	BDNF_ENST00000356660.4_Silent_p.S92S|BDNF_ENST00000395980.2_Silent_p.S92S|BDNF_ENST00000395986.2_Silent_p.S107S|BDNF_ENST00000525950.1_Silent_p.S92S|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000533131.1_Silent_p.S92S|BDNF_ENST00000532997.1_Silent_p.S92S|BDNF_ENST00000420794.1_Silent_p.S92S|BDNF_ENST00000439476.2_Silent_p.S92S|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000501176.2_RNA|BDNF-AS_ENST00000530313.1_RNA|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000395983.3_Silent_p.S92S|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000533246.1_Silent_p.S92S|BDNF_ENST00000438929.1_Silent_p.S174S|BDNF_ENST00000314915.6_Silent_p.S100S|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000395981.3_Silent_p.S92S|BDNF_ENST00000418212.1_Silent_p.S92S|BDNF_ENST00000530861.1_Silent_p.S92S|BDNF_ENST00000395978.3_Silent_p.S92S|BDNF-AS_ENST00000499008.3_RNA	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	92						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						GCATCACCCTGGACGTGTACA	0.473000													13	67					4.3838e-07	5.72966e-07	0.435327	1	0
DHX58	79132	broad.mit.edu	37	17	40254248	40254248	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:40254248T>A	ENST00000251642.3	-	13	2059	c.1837A>T	c.(1837-1839)Agg>Tgg	p.R613W		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	613	RNA-binding.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCACAGTTCCTGCAGCTGATG	0.582000											OREG0024418	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	54	192					0	0	0.870114	0	0
QKI	9444	broad.mit.edu	37	6	163956052	163956052	+	Silent	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:163956052A>G	ENST00000361752.3	+	4	992	c.441A>G	c.(439-441)ctA>ctG	p.L147L	QKI_ENST00000361195.2_Silent_p.L147L|QKI_ENST00000453779.2_Silent_p.L147L|QKI_ENST00000392127.2_Silent_p.L147L|QKI_ENST00000424802.3_Silent_p.L147L|QKI_ENST00000275262.7_Silent_p.L147L	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	147	KH.				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GGGAGCATCTAAATGAAGATT	0.348000													6	41					0	0	0.217242	0	0
OR2M5	127059	broad.mit.edu	37	1	248309207	248309207	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:248309207G>T	ENST00000366476.1	+	1	758	c.758G>T	c.(757-759)gGa>gTa	p.G253V		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ATGTACTATGGAGCAGGTTTG	0.498000													53	240					1.1362e-29	2.31527e-29	0.870114	1	0
RBL2	5934	broad.mit.edu	37	16	53504351	53504351	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:53504351G>T	ENST00000262133.6	+	16	2439	c.2302G>T	c.(2302-2304)Ggg>Tgg	p.G768W	RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	768	Pocket; binds E1A.|Spacer.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CAATGTTGGGGGGCAGGCACA	0.478000													10	52					7.03913e-09	9.94101e-09	0.411799	1	0
HHIPL1	84439	broad.mit.edu	37	14	100134607	100134607	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:100134607G>A	ENST00000330710.5	+	7	1795	c.1697G>A	c.(1696-1698)cGc>cAc	p.R566H	HHIPL1_ENST00000357223.2_Missense_Mutation_p.R566H	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	566					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				ACAGCTCCACGCGGAGTTGTC	0.567000													25	91					0	0	0.706142	0	0
GBX1	2636	broad.mit.edu	37	7	150846032	150846032	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:150846032C>T	ENST00000297537.4	-	2	735	c.736G>A	c.(736-738)Gag>Aag	p.E246K		NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	246						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTGCCCCCTCCTCAGCTCCA	0.617000													28	156					0	0	0.779181	0	0
OTOGL	283310	broad.mit.edu	37	12	80655814	80655814	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:80655814C>A	ENST00000458043.2	+	18	1934	c.1928C>A	c.(1927-1929)aCc>aAc	p.T643N	OTOGL_ENST00000547103.1_Missense_Mutation_p.T643N	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GTTTCTTCTACCTGTTTTGCA	0.418000													12	83					0.000219431	0.000252395	0.457914	1	0
HTR5A	3361	broad.mit.edu	37	7	154862858	154862858	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:154862858C>A	ENST00000287907.2	+	1	825	c.249C>A	c.(247-249)gcC>gcA	p.A83A	AC093726.4_ENST00000395731.2_Silent_p.T52T|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000543018.1_Silent_p.T52T	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	83						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CATCCATGGCCGTCTCGGATG	0.682000													6	87					8.12818e-05	9.4606e-05	0.248553	1	0
COL9A3	1299	broad.mit.edu	37	20	61458592	61458592	+	Splice_Site	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:61458592G>C	ENST00000343916.3	+	16	795		c.e16-1			NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3						axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					ATCCTTTCCAGGGTGACCGAG	0.642000													10	86					0	0	0.457914	0	0
RNASEH1	246243	broad.mit.edu	37	2	3598039	3598039	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:3598039C>T	ENST00000315212.3	-	4	788	c.433G>A	c.(433-435)Gat>Aat	p.D145N		NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	145	RNase H.				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		CAGCAGCCATCAGTGTAGACG	0.502000													9	189					0	0	0.361761	0	0
NYAP1	222950	broad.mit.edu	37	7	100087053	100087053	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:100087053G>T	ENST00000423930.1	+	4	1868	c.1709G>T	c.(1708-1710)gGg>gTg	p.G570V	NYAP1_ENST00000454988.1_Missense_Mutation_p.G513V|NYAP1_ENST00000300179.2_Missense_Mutation_p.G570V			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	570																	CTCAAGGCTGGGGGGGTGCTG	0.642000													15	68					1.45105e-14	2.44463e-14	0.539581	1	0
USH1C	10083	broad.mit.edu	37	11	17544442	17544442	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:17544442C>A	ENST00000005226.7	-	12	907	c.908G>T	c.(907-909)cGg>cTg	p.R303L	USH1C_ENST00000527720.1_Missense_Mutation_p.R272L|USH1C_ENST00000318024.4_Missense_Mutation_p.R303L|USH1C_ENST00000527020.1_Missense_Mutation_p.R284L	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	303					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CTCTGCCAGCCGCTCCCGGTC	0.662000													3	9					0.150653	0.154185	0.150653	1	0
SCARB1	949	broad.mit.edu	37	12	125302250	125302250	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:125302250C>T	ENST00000339570.5	-	2	326	c.130G>A	c.(130-132)Gtg>Atg	p.V44M	SCARB1_ENST00000546215.1_Missense_Mutation_p.V44M|SCARB1_ENST00000541205.1_Missense_Mutation_p.V3M|SCARB1_ENST00000540495.1_Missense_Mutation_p.V7M|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000415380.2_Missense_Mutation_p.V44M|SCARB1_ENST00000376788.1_Intron|SCARB1_ENST00000261693.6_Missense_Mutation_p.V44M|SCARB1_ENST00000544327.1_De_novo_Start_InFrame	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	44					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	p.V44M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	TCGATGCGCACGTTCTGCAGG	0.597000													16	109					0	0	0.539581	0	0
CNBD1	168975	broad.mit.edu	37	8	87917312	87917312	+	Silent	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:87917312G>C	ENST00000518476.1	+	3	213	c.162G>C	c.(160-162)cgG>cgC	p.R54R		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	54										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TTTTAAGCCGGAGTATGAGCA	0.328000													3	16					0	0	0.150653	0	0
PRRX2	51450	broad.mit.edu	37	9	132483045	132483045	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:132483045C>A	ENST00000372469.4	+	3	845	c.618C>A	c.(616-618)tcC>tcA	p.S206S		NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	206						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				CAGCCTCGTCCCCCTACAGGT	0.652000													12	52					0.000308642	0.000350295	0.479597	1	0
FGD5	152273	broad.mit.edu	37	3	14942523	14942523	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:14942523C>A	ENST00000285046.5	+	9	3329	c.3219C>A	c.(3217-3219)ctC>ctA	p.L1073L	FGD5_ENST00000543601.1_Silent_p.L832L|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1073	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CACTGAGCCTCATCTCCAAAG	0.607000													31	159					2.87052e-16	5.0604e-16	0.812448	1	0
OVCH2	341277	broad.mit.edu	37	11	7721903	7721903	+	RNA	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:7721903G>T	ENST00000454689.1	-	0	840				OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		AAGATCCCAGGGGATCCTTGA	0.493000													4	28					0.00909568	0.00968067	0.150653	1	0
MPO	4353	broad.mit.edu	37	17	56349150	56349150	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:56349150C>T	ENST00000340482.3	-	10	2168	c.1992G>A	c.(1990-1992)gaG>gaA	p.E664E	MPO_ENST00000225275.3_Silent_p.E632E			P05164	PERM_HUMAN	myeloperoxidase	632					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	TGCCATACTGCTCCATCAGTT	0.622000													9	102					0	0	0.361761	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559143	140559143	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:140559143G>T	ENST00000239444.2	+	1	1773	c.1528G>T	c.(1528-1530)Gac>Tac	p.D510Y		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		510	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATCAACACAGACAACGGCCA	0.672000													39	158					1.67211e-32	3.44149e-32	0.870114	1	0
DNAJC4	3338	broad.mit.edu	37	11	64001510	64001510	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:64001510C>A	ENST00000321460.5	+	5	772	c.675C>A	c.(673-675)atC>atA	p.I225I	RP11-783K16.14_ENST00000534988.1_RNA|RP11-783K16.14_ENST00000539963.1_RNA|DNAJC4_ENST00000321685.3_Intron|DNAJC4_ENST00000355040.4_3'UTR			Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4	0					protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding			endometrium(1)|lung(1)|prostate(1)	3						ACTTCGGGATCCCTATCCCAA	0.632000													4	31					0.00024832	0.000283873	0.150653	1	0
TCTE1	202500	broad.mit.edu	37	6	44250144	44250144	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:44250144G>A	ENST00000371505.4	-	4	1121	c.999C>T	c.(997-999)caC>caT	p.H333H	TCTE1_ENST00000371503.3_Intron|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	333										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCAGGCGGCTGTGGCTCAGCA	0.607000													15	99					0	0	0.500413	0	0
SI	6476	broad.mit.edu	37	3	164714386	164714386	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:164714386G>T	ENST00000264382.3	-	40	4691	c.4629C>A	c.(4627-4629)acC>acA	p.T1543T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1543	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GCATCCAGCGGGTACAGAGAT	0.308000										HNSCC(35;0.089)			6	110					0.00116845	0.00129323	0.217242	1	0
GRHL3	57822	broad.mit.edu	37	1	24680928	24680928	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:24680928G>A	ENST00000361548.4	+	16	1989	c.1759G>A	c.(1759-1761)Gac>Aac	p.D587N	GRHL3_ENST00000350501.5_Intron|GRHL3_ENST00000236255.4_Missense_Mutation_p.D592N|GRHL3_ENST00000356046.2_Missense_Mutation_p.D541N|GRHL3_ENST00000342072.4_Missense_Mutation_p.D494N	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	0					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CTTCCTGCTGGACATGGGGGA	0.527000													13	70					0	0	0.539581	0	0
OR2L13	284521	broad.mit.edu	37	1	248263455	248263455	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:248263455C>T	ENST00000366478.2	+	3	1115	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	OR2L13_ENST00000358120.2_Missense_Mutation_p.R260W	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CACCTATCTTCGGCCCAGGAA	0.463000													41	95					0	0	0.870114	0	0
CRB2	286204	broad.mit.edu	37	9	126125304	126125304	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:126125304G>A	ENST00000373631.3	+	2	256	c.255G>A	c.(253-255)caG>caA	p.Q85Q	CRB2_ENST00000359999.3_Silent_p.Q85Q	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	85	EGF-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GTGTGCCCCAGGGTCCAGATC	0.682000													4	82					0	0	0.184627	0	0
BEND3	57673	broad.mit.edu	37	6	107391061	107391061	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:107391061G>A	ENST00000429433.2	-	5	1983	c.1334C>T	c.(1333-1335)cCg>cTg	p.P445L	BEND3_ENST00000369042.1_Missense_Mutation_p.P445L	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	445	BEN 2.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CAGCCGCTGCGGGTCCAGCTC	0.622000													4	24					0	0	0.150653	0	0
NBAS	51594	broad.mit.edu	37	2	15651344	15651344	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:15651344C>A	ENST00000281513.5	-	10	902	c.877G>T	c.(877-879)Gtt>Ttt	p.V293F	NBAS_ENST00000441750.1_Missense_Mutation_p.V293F	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	293										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACTGCAGTAACCCCGTCTCCA	0.413000													29	223					6.04164e-23	1.16847e-22	0.750413	1	0
MEX3B	84206	broad.mit.edu	37	15	82336562	82336562	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:82336562C>A	ENST00000329713.4	-	2	1084	c.649G>T	c.(649-651)Gct>Tct	p.A217S	MEX3B_ENST00000558133.1_3'UTR	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	217	KH 2.				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						TCCTCTCGAGCGCGATCCACG	0.612000													64	158					9.42754e-34	1.9521e-33	0.870114	1	0
SEMA6A	57556	broad.mit.edu	37	5	115813761	115813761	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:115813761C>T	ENST00000343348.6	-	14	2304	c.1517G>A	c.(1516-1518)tGt>tAt	p.C506Y	SEMA6A_ENST00000282394.6_Missense_Mutation_p.C38Y|SEMA6A_ENST00000510263.1_Missense_Mutation_p.C506Y|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.C506Y|CTB-118N6.3_ENST00000508640.1_RNA	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	506	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CTTTATCACACAGGTAGAGAA	0.448000													17	71					0	0	0.539581	0	0
TSPAN11	441631	broad.mit.edu	37	12	31135539	31135539	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:31135539G>A	ENST00000261177.9	+	6	588	c.529G>A	c.(529-531)Ggc>Agc	p.G177S	TSPAN11_ENST00000546076.1_Missense_Mutation_p.G177S|TSPAN11_ENST00000544427.1_Missense_Mutation_p.G167S|TSPAN11_ENST00000535215.1_Missense_Mutation_p.G106S	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	177						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGAGGCCGAGGGCCGCCAGGT	0.647000													4	29					0	0	0.217242	0	0
ITGB3	3690	broad.mit.edu	37	17	45361827	45361827	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:45361827C>G	ENST00000559488.1	+	4	396	c.380C>G	c.(379-381)tCc>tGc	p.S127C	ITGB3_ENST00000435993.2_Missense_Mutation_p.S80C|ITGB3_ENST00000571680.1_Missense_Mutation_p.S127C|ITGB3_ENST00000560629.1_Silent_p.L115L	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	127					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	AAGAATTTCTCCATCCAAGTG	0.443000													15	74					0	0	0.624587	0	0
UGT2B17	7367	broad.mit.edu	37	4	69416613	69416613	+	Splice_Site	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:69416613A>T	ENST00000317746.2	-	5	1137	c.1093_splice	c.e5-1	p.G365_splice		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	365					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TTTTGGGATGACCTAAAAGTG	0.383000													4	74					0	0	0.184627	0	0
ARFRP1	10139	broad.mit.edu	37	20	62337733	62337733	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:62337733T>A	ENST00000359715.4	-	3	806	c.240A>T	c.(238-240)gaA>gaT	p.E80D	ARFRP1_ENST00000324228.2_Missense_Mutation_p.E80D|ARFRP1_ENST00000440854.1_Missense_Mutation_p.E80D			Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	80					small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			ACTGCAGCTCTTCCTGCCCTC	0.602000													31	193					0	0	0.840704	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117959822	117959822	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:117959822G>A	ENST00000310164.2	+	4	1122	c.615G>A	c.(613-615)cgG>cgA	p.R205R		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						AGCAGGAGCGGCTTCCCAACT	0.483000													14	31					0	0	0.479597	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073417	17073417	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:17073417G>T	ENST00000359963.3	-	1	283	c.24C>A	c.(22-24)gcC>gcA	p.A8A		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	8					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GCAGCTCCAGGGCTGAAGGGA	0.642000													13	53					2.48551e-13	4.07694e-13	0.520397	1	0
LARGE	9215	broad.mit.edu	37	22	33733703	33733703	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:33733703C>A	ENST00000354992.2	-	11	1787	c.1216G>T	c.(1216-1218)Gag>Tag	p.E406*	LARGE_ENST00000437602.2_Nonsense_Mutation_p.E406*|LARGE_ENST00000402320.1_Intron|LARGE_ENST00000452586.2_Nonsense_Mutation_p.E205*|LARGE_ENST00000397394.2_Nonsense_Mutation_p.E406*|LARGE_ENST00000337431.2_Intron	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	406					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CCGTCATACTCCAGGAAGGTC	0.537000													19	57					1.85244e-09	2.67314e-09	0.654019	1	0
NPAS3	64067	broad.mit.edu	37	14	34270252	34270252	+	Silent	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:34270252G>C	ENST00000346562.2	+	11	2717	c.2643G>C	c.(2641-2643)ctG>ctC	p.L881L	NPAS3_ENST00000551492.1_Silent_p.L918L|NPAS3_ENST00000356141.4_Silent_p.L913L|NPAS3_ENST00000548645.1_Silent_p.L883L|NPAS3_ENST00000357798.5_Silent_p.L900L	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	913					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TCTCCACGCTGCCCTTCCCCG	0.692000													5	10					0	0	0.217242	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965209	88965209	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:88965209C>A	ENST00000333190.4	+	4	3522	c.2913C>A	c.(2911-2913)ggC>ggA	p.G971G		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	971						intracellular	zinc ion binding	p.G971G(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CACCATCAGGCTGTAACAGAC	0.403000										HNSCC(36;0.09)			44	106					1.32667e-27	2.67157e-27	0.870114	1	0
PLCE1	51196	broad.mit.edu	37	10	96028742	96028742	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:96028742G>T	ENST00000260766.3	+	17	4972	c.4338G>T	c.(4336-4338)ggG>ggT	p.G1446G	PLCE1_ENST00000371385.3_Silent_p.G1138G|PLCE1_ENST00000371380.2_Silent_p.G1446G|PLCE1_ENST00000371375.1_Silent_p.G1138G	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1446	PI-PLC X-box.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GAGACGATGGGATGCCCATCA	0.458000													6	78					2.80697e-09	4.01948e-09	0.387290	1	0
GSTM4	2948	broad.mit.edu	37	1	110200478	110200478	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:110200478G>A	ENST00000369833.1	+	3	1135	c.221G>A	c.(220-222)tGc>tAc	p.C74Y	GSTM4_ENST00000336075.5_Intron|GSTM4_ENST00000495742.1_3'UTR|GSTM4_ENST00000369836.4_Missense_Mutation_p.C115Y|GSTM4_ENST00000326729.5_Missense_Mutation_p.C115Y			Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4	115	GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GCCAGAGTCTGCTACAGCCCT	0.522000													22	56					0	0	0.667858	0	0
ANPEP	290	broad.mit.edu	37	15	90340926	90340926	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:90340926C>A	ENST00000300060.6	-	15	2350	c.2037G>T	c.(2035-2037)gcG>gcT	p.A679A	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	679	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TGTTGTTCAGCGCCAGAGTGA	0.587000													13	196					7.07596e-05	8.2876e-05	0.539581	1	0
LEPR	3953	broad.mit.edu	37	1	66036203	66036203	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:66036203C>A	ENST00000349533.6	+	4	273	c.88C>A	c.(88-90)Cct>Act	p.P30T	LEPR_ENST00000344610.8_Missense_Mutation_p.P30T|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371059.3_Missense_Mutation_p.P30T|LEPR_ENST00000371058.1_Missense_Mutation_p.P30T|LEPR_ENST00000371060.3_Missense_Mutation_p.P30T|LEPR_ENST00000406510.3_5'UTR	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	30					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TCCAATTACTCCTTGGAGATT	0.333000													5	100					0.0477658	0.049628	0.307466	1	0
IGSF10	285313	broad.mit.edu	37	3	151166919	151166919	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:151166919T>G	ENST00000282466.3	-	4	849	c.850A>C	c.(850-852)Att>Ctt	p.I284L		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	284					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GATGAGTCAATGGTTGGCTTG	0.498000													4	123					0	0	0.217242	0	0
ZNF578	147660	broad.mit.edu	37	19	53008024	53008024	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:53008024G>T	ENST00000421239.2	+	5	424	c.180G>T	c.(178-180)ctG>ctT	p.L60L		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ACAGGAACCTGGAGGCTGTGG	0.493000													30	109					2.40579e-17	4.31906e-17	0.819951	1	0
CDK5RAP2	55755	broad.mit.edu	37	9	123215988	123215988	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:123215988C>A	ENST00000349780.4	-	21	2718	c.2539G>T	c.(2539-2541)Gat>Tat	p.D847Y	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.D847Y|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.D815Y|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.D847Y	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	847					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TTCAGTTCATCATGTGGCTTG	0.473000													24	127					1.16021e-09	1.68251e-09	0.717897	1	0
LPHN2	23266	broad.mit.edu	37	1	82408843	82408843	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:82408843C>A	ENST00000370728.1	+	8	1233	c.588C>A	c.(586-588)cgC>cgA	p.R196R	LPHN2_ENST00000335786.5_Silent_p.R196R|LPHN2_ENST00000359929.3_Silent_p.R196R|LPHN2_ENST00000370730.1_Silent_p.R196R|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Silent_p.R196R|LPHN2_ENST00000319517.6_Silent_p.R196R|LPHN2_ENST00000370721.1_Silent_p.R200R|LPHN2_ENST00000370723.1_Silent_p.R196R|LPHN2_ENST00000370713.1_Silent_p.R196R|LPHN2_ENST00000271029.4_Silent_p.R196R|LPHN2_ENST00000370725.1_Silent_p.R196R|LPHN2_ENST00000370727.1_Silent_p.R196R|LPHN2_ENST00000370717.2_Silent_p.R196R|LPHN2_ENST00000394879.1_Silent_p.R196R			O95490	LPHN2_HUMAN	latrophilin 2	196	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AAAATAGTCGCCAAACAACAA	0.368000													9	49					0.000442599	0.000499293	0.335167	1	0
USF2	7392	broad.mit.edu	37	19	35761417	35761417	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:35761417G>T	ENST00000222305.3	+	5	534	c.497G>T	c.(496-498)cGa>cTa	p.R166L	USF2_ENST00000595068.1_Missense_Mutation_p.R166L|USF2_ENST00000594064.1_Missense_Mutation_p.R164L|USF2_ENST00000343550.5_Missense_Mutation_p.R99L|USF2_ENST00000379134.3_Intron	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	upstream transcription factor 2, c-fos interacting	166					lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGGGAGGCACGATTTGCCTAT	0.592000													10	170					1.08611e-07	1.4624e-07	0.387290	1	0
GJC1	10052	broad.mit.edu	37	17	42882872	42882872	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:42882872C>A	ENST00000426548.1	-	3	583	c.314G>T	c.(313-315)gGt>gTt	p.G105V	GJC1_ENST00000590758.1_Missense_Mutation_p.G105V|GJC1_ENST00000330514.4_Missense_Mutation_p.G105V|GJC1_ENST00000592524.1_Missense_Mutation_p.G105V	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	105					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				GTCTGCTTCACCGTGCTCCAT	0.537000													10	159					0.00010058	0.00011667	0.411799	1	0
LRRC7	57554	broad.mit.edu	37	1	70503936	70503936	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:70503936C>G	ENST00000310961.5	+	22	2748	c.2330C>G	c.(2329-2331)tCg>tGg	p.S777W	LRRC7_ENST00000035383.5_Missense_Mutation_p.S772W|LRRC7_ENST00000415775.2_Missense_Mutation_p.S56W			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	772						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACTGATGGCTCGCATTATGAC	0.502000													46	179					0	0	0.870114	0	0
NUP188	23511	broad.mit.edu	37	9	131721172	131721172	+	Splice_Site	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:131721172G>T	ENST00000372577.2	+	7	485	c.465_splice	c.e7+1	p.R155_splice		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	155					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CACCCCTATAGGGTAAGCTTG	0.303000													4	33					0.184627	0.187367	0.184627	1	0
MON1B	22879	broad.mit.edu	37	16	77228444	77228444	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:77228444G>C	ENST00000248248.3	+	4	1038	c.688G>C	c.(688-690)Gac>Cac	p.D230H	MON1B_ENST00000320859.6_Intron|MON1B_ENST00000439557.2_Missense_Mutation_p.D121H|MON1B_ENST00000545553.1_Missense_Mutation_p.D84H	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	230							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						GCGCACACTGGACCGACTTCT	0.637000													12	59					0	0	0.457914	0	0
KLHL4	56062	broad.mit.edu	37	X	86880703	86880703	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:86880703G>T	ENST00000373119.4	+	6	1376	c.1231G>T	c.(1231-1233)Gag>Tag	p.E411*	KLHL4_ENST00000373114.4_Nonsense_Mutation_p.E411*	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	411						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						TCTTTTGCCTGAGAGAAGATC	0.433000													19	30					9.7654e-05	0.000113533	0.557998	1	0
PPP1R14A	94274	broad.mit.edu	37	19	38743601	38743601	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:38743601G>T	ENST00000591585.1	-	2	407	c.215C>A	c.(214-216)cCc>cAc	p.P72H	PPP1R14A_ENST00000591291.1_Missense_Mutation_p.P72H|PPP1R14A_ENST00000347262.4_Intron|PPP1R14A_ENST00000587515.1_Missense_Mutation_p.P2H|PPP1R14A_ENST00000301242.4_Missense_Mutation_p.P72H			Q96A00	PP14A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14A	72	Inhibitory.				regulation of phosphorylation	cytoplasm	protein binding|protein phosphatase inhibitor activity			lung(1)	1	all_cancers(60;9.57e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GATCTCATCGGGCATGTCTGC	0.612000													45	204					3.50607e-19	6.49318e-19	0.870114	1	0
RAI2	10742	broad.mit.edu	37	X	17819710	17819710	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:17819710G>T	ENST00000545871.1	-	3	881	c.421C>A	c.(421-423)Ccg>Acg	p.P141T	RAI2_ENST00000451717.1_Missense_Mutation_p.P141T|RAI2_ENST00000360011.1_Missense_Mutation_p.P141T|RAI2_ENST00000415486.3_Missense_Mutation_p.P91T|RAI2_ENST00000331511.1_Missense_Mutation_p.P141T	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	141					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GCCTCCTGCGGCAGGACCAGA	0.652000													22	50					1.75199e-13	2.88993e-13	0.717897	1	0
TSHR	7253	broad.mit.edu	37	14	81558892	81558892	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:81558892C>A	ENST00000541158.2	+	7	807	c.485C>A	c.(484-486)cCt>cAt	p.P162H	TSHR_ENST00000298171.2_Missense_Mutation_p.P162H|TSHR_ENST00000342443.6_Missense_Mutation_p.P162H|TSHR_ENST00000554263.1_Missense_Mutation_p.P162H|TSHR_ENST00000554435.1_Missense_Mutation_p.P162H			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	162			P -> A (in CHNG1).		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)	ACAGACAACCCTTACATGACG	0.418000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						10	113					9.31168e-06	1.14417e-05	0.435327	1	0
TMEM71	137835	broad.mit.edu	37	8	133764149	133764149	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:133764149T>C	ENST00000356838.3	-	4	338	c.196A>G	c.(196-198)Aga>Gga	p.R66G	TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Missense_Mutation_p.R66G|TMEM71_ENST00000523829.1_Missense_Mutation_p.R66G	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	66						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GTGAGGAGTCTGGGACTTCGG	0.488000													18	125					0	0	0.557998	0	0
MYT1L	23040	broad.mit.edu	37	2	1926887	1926887	+	Silent	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:1926887C>G	ENST00000399161.2	-	10	1401	c.654G>C	c.(652-654)cgG>cgC	p.R218R	MYT1L_ENST00000428368.2_Silent_p.R218R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	218					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R218R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CAGTCCTGGCCCGGTAGGCTG	0.433000													8	34					0	0	0.307466	0	0
SS18L1	26039	broad.mit.edu	37	20	60738588	60738588	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:60738588C>T	ENST00000331758.3	+	6	657	c.631C>T	c.(631-633)Cag>Tag	p.Q211*	SS18L1_ENST00000421564.1_Nonsense_Mutation_p.Q211*|SS18L1_ENST00000370848.4_Nonsense_Mutation_p.Q214*	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	211	Gln-rich.|Methionine-rich intra-molecular domain (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			CTACCAGGGCCAGTCGTCCAT	0.687000			T	SSX1	synovial sarcoma								20	47					0	0	0.693898	0	0
MMRN1	22915	broad.mit.edu	37	4	90857692	90857692	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:90857692C>A	ENST00000394980.1	+	7	3180	c.2861C>A	c.(2860-2862)cCa>cAa	p.P954Q	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.P696Q|MMRN1_ENST00000264790.2_Missense_Mutation_p.P954Q			Q13201	MMRN1_HUMAN	multimerin 1	954					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CATTCCCTGCCAGATATTCAA	0.353000													4	55					0.00909568	0.00968067	0.150653	1	0
VCAN	1462	broad.mit.edu	37	5	82837869	82837869	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:82837869C>A	ENST00000265077.3	+	8	9612	c.9047C>A	c.(9046-9048)gCa>gAa	p.A3016E	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.A2029E|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3016	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GAAACTCAAGCAGCTTTAATC	0.498000													10	39					7.48243e-07	9.66873e-07	0.335167	1	0
C2orf71	388939	broad.mit.edu	37	2	29293652	29293652	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:29293652G>T	ENST00000331664.5	-	1	3475	c.3476C>A	c.(3475-3477)cCa>cAa	p.P1159Q		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1159					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GCATTCTGCTGGGTTCCCGAG	0.622000													11	57					2.61681e-11	4.05567e-11	0.457914	1	0
TACC2	10579	broad.mit.edu	37	10	123970502	123970502	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:123970502T>A	ENST00000369005.1	+	9	6902	c.6562T>A	c.(6562-6564)Ttg>Atg	p.L2188M	TACC2_ENST00000358010.1_Missense_Mutation_p.L334M|TACC2_ENST00000260733.3_Missense_Mutation_p.L266M|TACC2_ENST00000369004.3_Missense_Mutation_p.L266M|TACC2_ENST00000368999.1_Missense_Mutation_p.L266M|TACC2_ENST00000515273.1_Missense_Mutation_p.L2192M|TACC2_ENST00000334433.3_Missense_Mutation_p.L2188M|TACC2_ENST00000513429.1_Missense_Mutation_p.L334M|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000360561.3_Missense_Mutation_p.L266M|TACC2_ENST00000515603.1_Missense_Mutation_p.L2143M|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000453444.2_Missense_Mutation_p.L2192M	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2188						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCCAGCCTTATTGGAGGAGAC	0.602000													13	82					0	0	0.435327	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68688059	68688059	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:68688059A>T	ENST00000283916.6	-	10	1351	c.1253T>A	c.(1252-1254)aTc>aAc	p.I418N	RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.I301N	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	418					proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GTTGCACTAGATCCCAGTTTG	0.458000													52	295					0	0	0.870114	0	0
TDRD6	221400	broad.mit.edu	37	6	46659310	46659310	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:46659310A>T	ENST00000544460.1	+	1	3699	c.3445A>T	c.(3445-3447)Agt>Tgt	p.S1149C	TDRD6_ENST00000316081.6_Missense_Mutation_p.S1149C	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1149					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TATTCAAATTAGTGCTAGTAT	0.323000													20	41					0	0	0.608945	0	0
GULP1	51454	broad.mit.edu	37	2	189406067	189406067	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:189406067G>C	ENST00000410051.1	+	7	813	c.421G>C	c.(421-423)Ggg>Cgg	p.G141R	GULP1_ENST00000409637.3_Missense_Mutation_p.G141R|GULP1_ENST00000409830.1_Intron|GULP1_ENST00000409609.1_Intron|GULP1_ENST00000409580.1_Intron|GULP1_ENST00000409843.1_Intron|GULP1_ENST00000359135.3_Intron|GULP1_ENST00000409805.1_Intron			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	0	PID.				apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			AGATGTTGTAGGGTGGTTTGT	0.328000													12	90					0	0	0.435327	0	0
EVI2A	2123	broad.mit.edu	37	17	29645797	29645797	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:29645797C>T	ENST00000247270.3	-	3	640	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	CTD-2370N5.3_ENST00000578584.1_Silent_p.*18*|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|NF1_ENST00000581113.2_Intron|EVI2A_ENST00000462804.2_Missense_Mutation_p.E79K|EVI2A_ENST00000461237.1_Missense_Mutation_p.E79K	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	79						integral to membrane	transmembrane receptor activity	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		TGAGATGTTTCAGGCATGTTT	0.353000													13	74					0	0	0.557998	0	0
MET	4233	broad.mit.edu	37	7	116411686	116411686	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:116411686G>A	ENST00000397752.3	+	13	3065	c.2865G>A	c.(2863-2865)ctG>ctA	p.L955L	MET_ENST00000318493.6_Silent_p.L973L	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	955					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TCCTGTGGCTGAAAAAGAGAA	0.343000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				17	98					0	0	0.575678	0	0
PROS1	5627	broad.mit.edu	37	3	93595945	93595945	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:93595945C>A	ENST00000394236.3	-	14	2051	c.1735G>T	c.(1735-1737)Gtc>Ttc	p.V579F	PROS1_ENST00000407433.1_Missense_Mutation_p.V448F	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	579	Laminin G-like 2.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTTCTGTTGACTCTAAATTCC	0.388000													12	50					1.08611e-07	1.4624e-07	0.387290	1	0
KCNH6	81033	broad.mit.edu	37	17	61611571	61611571	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:61611571C>T	ENST00000583023.1	+	5	1011	c.1000C>T	c.(1000-1002)Ccc>Tcc	p.P334S	KCNH6_ENST00000580652.1_Missense_Mutation_p.P334S|KCNH6_ENST00000314672.5_Missense_Mutation_p.P334S|KCNH6_ENST00000581784.1_Missense_Mutation_p.P334S|KCNH6_ENST00000456941.2_Missense_Mutation_p.P334S	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	334					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)	GGTCAGCCACCCCCGCCGCAT	0.567000													13	80					0	0	0.624587	0	0
ZNF514	84874	broad.mit.edu	37	2	95815708	95815708	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:95815708C>A	ENST00000295208.2	-	5	984	c.522G>T	c.(520-522)atG>atT	p.M174I	ZNF514_ENST00000411425.1_Missense_Mutation_p.M174I	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						ATCCTTCTCCCATGAGAATGC	0.398000													28	137					4.74835e-14	7.92164e-14	0.750413	1	0
EBLN2	55096	broad.mit.edu	37	3	73112044	73112044	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:73112044C>T	ENST00000533473.1	+	1	1235	c.812C>T	c.(811-813)tCa>tTa	p.S271L	PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000394284.3_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	271							protein binding			endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						CTACGCAAGTCAAGTTAGTTG	0.443000													5	211					0	0	0.217242	0	0
USH1G	124590	broad.mit.edu	37	17	72915758	72915758	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:72915758C>A	ENST00000319642.1	-	2	1355	c.1173G>T	c.(1171-1173)ccG>ccT	p.P391P		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	391	SAM.				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					AGGTCTCCAGCGGGCTAGTCT	0.632000													7	54					5.18039e-06	6.43472e-06	0.278610	1	0
MMP1	4312	broad.mit.edu	37	11	102668046	102668046	+	Silent	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:102668046C>G	ENST00000315274.6	-	2	358	c.291G>C	c.(289-291)gtG>gtC	p.V97V	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	97					blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		CAAACTGAGCCACATCAGGCA	0.522000													14	53					0	0	0.479597	0	0
GATA3	2625	broad.mit.edu	37	10	8111478	8111478	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:8111478A>T	ENST00000379328.3	+	5	1535	c.967A>T	c.(967-969)Acc>Tcc	p.T323S	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Missense_Mutation_p.T322S	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	322	Poly-Thr.				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GAACTGTCAGACCACCACAAC	0.517000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						21	134					0	0	0.681144	0	0
A2M	2	broad.mit.edu	37	12	9248291	9248291	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:9248291G>A	ENST00000318602.7	-	16	2164	c.1857C>T	c.(1855-1857)taC>taT	p.Y619Y		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	619					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GTAGCAGGTTGTAAACCTGTA	0.383000													11	44					0	0	0.411799	0	0
UBC	7316	broad.mit.edu	37	12	125397145	125397145	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:125397145C>G	ENST00000536769.1	-	1	2749	c.1173G>C	c.(1171-1173)aaG>aaC	p.K391N	UBC_ENST00000339647.5_Missense_Mutation_p.K391N|UBC_ENST00000546120.1_Missense_Mutation_p.K315N|UBC_ENST00000538617.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	391	Ubiquitin-like 6.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GAGTGATGGTCTTACCAGTCA	0.527000													47	257					0	0	0.870114	0	0
SDK1	221935	broad.mit.edu	37	7	4153772	4153772	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:4153772G>T	ENST00000404826.2	+	25	3828	c.3689G>T	c.(3688-3690)aGt>aTt	p.S1230I	SDK1_ENST00000389531.3_Missense_Mutation_p.S1230I	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1230	Fibronectin type-III 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAAGTCGTCAGTGACCGGCTG	0.607000													19	113					2.98393e-07	3.95034e-07	0.639603	1	0
MDGA1	266727	broad.mit.edu	37	6	37606040	37606040	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:37606040A>G	ENST00000434837.2	-	16	3895	c.2717T>C	c.(2716-2718)aTa>aCa	p.I906T	MDGA1_ENST00000297153.7_Missense_Mutation_p.I910T|MDGA1_ENST00000505425.1_Missense_Mutation_p.I906T	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	906	MAM.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GACGTCATCTATGGCAATATC	0.577000													17	105					0	0	0.624587	0	0
QRSL1	55278	broad.mit.edu	37	6	107111060	107111060	+	Splice_Site	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:107111060G>T	ENST00000369046.4	+	10	1470	c.1366_splice	c.e10+1	p.G456_splice		NM_018292.4	NP_060762.3	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1	456					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		AAATATGGCAGGTGAGGATTC	0.423000													9	32					4.68919e-08	6.42767e-08	0.361761	1	0
REPIN1	29803	broad.mit.edu	37	7	150066868	150066868	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:150066868G>A	ENST00000479668.1	+	2	156	c.68G>A	c.(67-69)cGa>cAa	p.R23Q	REPIN1_ENST00000489432.2_Missense_Mutation_p.R23Q|REPIN1_ENST00000518514.1_Intron|REPIN1_ENST00000397281.2_5'UTR|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000466559.1_Intron|REPIN1_ENST00000444957.1_Intron|REPIN1_ENST00000540729.1_5'UTR|REPIN1_ENST00000482680.1_Missense_Mutation_p.R23Q|REPIN1_ENST00000518462.1_Intron			Q9BWE0	REPI1_HUMAN	replication initiator 1	55					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)			AGTGTGGGCCGAAGCAGGCGC	0.587000													3	68					0	0	0.184627	0	0
OR51V1	283111	broad.mit.edu	37	11	5221535	5221535	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:5221535G>A	ENST00000321255.1	-	1	395	c.396C>T	c.(394-396)taC>taT	p.Y132Y		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAATTGCAATGTACCGGTCAA	0.423000													10	47					0	0	0.387290	0	0
HLCS	3141	broad.mit.edu	37	21	38308890	38308890	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr21:38308890C>A	ENST00000399120.1	-	5	2085	c.855G>T	c.(853-855)ttG>ttT	p.L285F	HLCS_ENST00000336648.3_Missense_Mutation_p.L285F	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	285					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	AGCCACTGCTCAAGACGCTGA	0.587000													20	70					1.10513e-12	1.78702e-12	0.624587	1	0
GBP7	388646	broad.mit.edu	37	1	89615107	89615107	+	Missense_Mutation	SNP	C	C	A	rs143684763	byFrequency	TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:89615107C>A	ENST00000294671.2	-	7	1158	c.1020G>T	c.(1018-1020)caG>caT	p.Q340H		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	340						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		ATCTCACTTGCTGGGCCATCT	0.557000													23	189					1.16021e-09	1.68251e-09	0.717897	1	0
KIF17	57576	broad.mit.edu	37	1	21014376	21014376	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:21014376G>A	ENST00000247986.2	-	8	1753	c.1443C>T	c.(1441-1443)gcC>gcT	p.A481A	KIF17_ENST00000375044.1_Silent_p.A381A|KIF17_ENST00000400463.3_Silent_p.A481A|KIF17_ENST00000490034.1_Intron			Q9P2E2	KIF17_HUMAN	kinesin family member 17	481					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)		CAGCGCTGCTGGCAAACTCAG	0.532000													25	125					0	0	0.706142	0	0
IGLL5	100423062	broad.mit.edu	37	22	23237658	23237658	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:23237658G>T	ENST00000532223.1	+	3	706	c.432G>T	c.(430-432)ccG>ccT	p.P144P	IGLL5_ENST00000531372.1_3'UTR|IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000526893.1_Silent_p.P143P			B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	143	C region (By similarity to lambda light- chain).|Ig-like C1-type.					extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						ACTTCTACCCGGGAGCTGTGA	0.597000													12	41					6.40141e-05	7.50611e-05	0.387290	1	0
HEPACAM	220296	broad.mit.edu	37	11	124792348	124792348	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:124792348G>C	ENST00000298251.4	-	6	1289	c.884C>G	c.(883-885)aCc>aGc	p.T295S		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	295					cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TCGAGGGAGGGTGTCTGCTGC	0.612000													27	213					0	0	0.750413	0	0
SIGLEC15	284266	broad.mit.edu	37	18	43422133	43422133	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:43422133C>A	ENST00000389474.3	+	6	1185	c.968C>A	c.(967-969)gCc>gAc	p.A323D	SIGLEC15_ENST00000602118.2_3'UTR|SIGLEC15_ENST00000546268.1_Missense_Mutation_p.A169D	NM_213602.2	NP_998767.1	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15	323						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						AGCCCACCAGCCACCATGTGC	0.547000													8	103					4.68919e-08	6.42767e-08	0.361761	1	0
SLC4A11	83959	broad.mit.edu	37	20	3211598	3211598	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:3211598C>T	ENST00000380059.3	-	10	1379	c.1278G>A	c.(1276-1278)gaG>gaA	p.E426E	SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Silent_p.E383E|SLC4A11_ENST00000380056.3_Silent_p.E399E	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	399	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CGTCTGTGTTCTCGTCATTGA	0.647000													22	76					0	0	0.693898	0	0
EGFLAM	133584	broad.mit.edu	37	5	38406293	38406293	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:38406293G>T	ENST00000322350.5	+	7	1124	c.778G>T	c.(778-780)Gat>Tat	p.D260Y	EGFLAM_ENST00000354891.3_Missense_Mutation_p.D260Y|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D26Y|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	260						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)					AGCTGGTGAGGATGATGAAGG	0.478000													9	88					0.00621372	0.00666173	0.335167	1	0
SORCS3	22986	broad.mit.edu	37	10	106959842	106959842	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:106959842G>T	ENST00000369701.3	+	15	2322	c.2095G>T	c.(2095-2097)Gag>Tag	p.E699*	SORCS3_ENST00000369699.4_5'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	699						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TTGCACCAAGGAGGACTATCA	0.532000													20	169					1.26454e-06	1.62076e-06	0.693898	1	0
ENC1	8507	broad.mit.edu	37	5	73931140	73931140	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:73931140A>T	ENST00000302351.4	-	2	2301	c.1171T>A	c.(1171-1173)Tat>Aat	p.Y391N	ENC1_ENST00000510316.1_Missense_Mutation_p.Y318N|ENC1_ENST00000537006.1_Missense_Mutation_p.Y391N	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	391					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CCAACCACATACAGGCAGTGC	0.577000													20	39					0	0	0.624587	0	0
COQ3	51805	broad.mit.edu	37	6	99828163	99828163	+	Translation_Start_Site	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:99828163C>A	ENST00000369242.1	-	0	312				COQ3_ENST00000479163.1_5'UTR|COQ3_ENST00000254759.3_Missense_Mutation_p.E96D			Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase						glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		AGGTTTTTACCTCACCGCTGT	0.458000													4	61					3.59834e-05	4.28791e-05	0.217242	1	0
TMEM71	137835	broad.mit.edu	37	8	133764150	133764150	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:133764150G>T	ENST00000356838.3	-	4	337	c.195C>A	c.(193-195)ccC>ccA	p.P65P	TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Silent_p.P65P|TMEM71_ENST00000523829.1_Silent_p.P65P	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	65						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TGAGGAGTCTGGGACTTCGGC	0.488000													17	123					6.94344e-10	1.01409e-09	0.539581	1	0
MYBBP1A	10514	broad.mit.edu	37	17	4453604	4453604	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:4453604C>A	ENST00000254718.4	-	9	1374	c.1068G>T	c.(1066-1068)gtG>gtT	p.V356V	MYBBP1A_ENST00000381556.2_Silent_p.V356V			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	356	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	p.V356V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGAAGGTGCCCACGTAATCGT	0.612000													39	230					1.39193e-11	2.18367e-11	0.870114	1	0
ARHGEF25	115557	broad.mit.edu	37	12	58009405	58009405	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:58009405C>A	ENST00000286494.4	+	12	1609	c.1149C>A	c.(1147-1149)ctC>ctA	p.L383L	AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000593846.1_RNA|ARHGEF25_ENST00000333972.7_Silent_p.L422L	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	383	PH.				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						GCGTCTTCCTCTTTGAGCAAA	0.557000													17	81					0.0383953	0.0399935	0.539581	1	0
SORCS3	22986	broad.mit.edu	37	10	106970909	106970909	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:106970909A>C	ENST00000369701.3	+	17	2503	c.2276A>C	c.(2275-2277)gAg>gCg	p.E759A	SORCS3_ENST00000369699.4_Missense_Mutation_p.E45A	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	759						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TATGGGTATGAGAGACATGGG	0.453000													7	54					0	0	0.335167	0	0
NRXN1	9378	broad.mit.edu	37	2	50850508	50850508	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:50850508C>A	ENST00000404971.1	-	7	2516	c.1177G>T	c.(1177-1179)Gga>Tga	p.G393*	NRXN1_ENST00000406316.2_Nonsense_Mutation_p.G360*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.G360*|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.G360*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.G360*|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.G360*	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	360	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.G393*(1)|p.G394*(1)|p.G360*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTAAACTTTCCATTCACAGGC	0.458000													5	48					0.00307968	0.00335074	0.278610	1	0
CCL23	6368	broad.mit.edu	37	17	34340339	34340339	+	Silent	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:34340339G>C	ENST00000293280.2	-	4	382	c.312C>G	c.(310-312)acC>acG	p.T104T	CCL23_ENST00000591423.1_Silent_p.T87T	NM_005064.3	NP_005055.2	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	87					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	GCCCCTTCTTGGTGAGGAAGC	0.537000													9	18					0	0	0.361761	0	0
CACNA1E	777	broad.mit.edu	37	1	181686415	181686415	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:181686415C>A	ENST00000526775.1	+	11	1667	c.1502C>A	c.(1501-1503)cCc>cAc	p.P501H	CACNA1E_ENST00000357570.5_Missense_Mutation_p.P452H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P501H|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P501H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P501H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.P452H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P108H	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	501					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CACAACCAGCCCCAGTGGCTC	0.537000													17	107					1.1804e-14	1.99356e-14	0.667858	1	0
PKDREJ	10343	broad.mit.edu	37	22	46655556	46655556	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:46655556G>A	ENST00000253255.5	-	1	3663	c.3664C>T	c.(3664-3666)Cca>Tca	p.P1222S		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1222					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCATTATCTGGTAGAACTATC	0.433000													8	147					0	0	0.387290	0	0
CARD10	29775	broad.mit.edu	37	22	37906348	37906348	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:37906348C>A	ENST00000403299.1	-	5	996	c.780G>T	c.(778-780)ggG>ggT	p.G260G	CARD10_ENST00000251973.5_Silent_p.G260G|CARD10_ENST00000494166.1_5'UTR			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	260					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					tctcctCTGCCCCAGGGGGCG	0.607000													17	43					1.00905e-13	1.67251e-13	0.575678	1	0
CNKSR3	154043	broad.mit.edu	37	6	154751653	154751653	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:154751653A>G	ENST00000607772.1	-	6	1166	c.622T>C	c.(622-624)Tgt>Cgt	p.C208R	CNKSR3_ENST00000433165.2_Missense_Mutation_p.C33R|CNKSR3_ENST00000479339.1_Missense_Mutation_p.C128R	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	208					negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TCCTCCAGACATGCACACTGG	0.393000													33	88					0	0	0.827153	0	0
ABCA6	23460	broad.mit.edu	37	17	67083546	67083546	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:67083546T>A	ENST00000284425.2	-	29	3941	c.3767A>T	c.(3766-3768)cAa>cTa	p.Q1256L	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1256					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TCTTTCTGTTTGAATATCTTC	0.373000													6	150					0	0	0.278610	0	0
SDK2	54549	broad.mit.edu	37	17	71377059	71377059	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:71377059G>T	ENST00000392650.3	-	34	4736	c.4736C>A	c.(4735-4737)cCc>cAc	p.P1579H	SDK2_ENST00000388726.3_Intron	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1579	Fibronectin type-III 10.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CGTGAGGCTGGGCCGGCTCAG	0.647000													3	18					0.014758	0.0156261	0.184627	1	0
NEK10	152110	broad.mit.edu	37	3	27203990	27203990	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:27203990C>A	ENST00000429845.2	-	32	3334	c.2972G>T	c.(2971-2973)aGc>aTc	p.S991I	NEK10_ENST00000383770.3_Intron|NEK10_ENST00000383771.4_Missense_Mutation_p.S303I|NEK10_ENST00000498182.1_Intron|NEK10_ENST00000295720.6_Missense_Mutation_p.S303I|NEK10_ENST00000357467.2_Missense_Mutation_p.S388I			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	991							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGCAGGAAGGCTATGGGACTG	0.458000													10	101					0.38729	0.391102	0.387290	1	0
HIST1H3D	8351	broad.mit.edu	37	6	26197074	26197074	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:26197074C>A	ENST00000377831.5	-	2	858	c.405G>T	c.(403-405)agG>agT	p.R135S	HIST1H3D_ENST00000356476.2_Missense_Mutation_p.R135S	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	135				Missing (in Ref. 2; AAA52651).	blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				CAATTTACGCCCTCTCCCCAC	0.502000													14	99					1.5739e-10	2.35912e-10	0.500413	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125547512	125547512	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:125547512G>T	ENST00000431078.1	+	18	3147	c.2783G>T	c.(2782-2784)gGa>gTa	p.G928V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	928	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGCTTCCTAGGATGCATTCGC	0.468000													18	66					4.54149e-19	8.39561e-19	0.624587	1	0
C12orf56	115749	broad.mit.edu	37	12	64784318	64784318	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:64784318G>A	ENST00000543942.2	-	1	654	c.28C>T	c.(28-30)Ccc>Tcc	p.P10S	C12orf56_ENST00000333722.5_Missense_Mutation_p.P10S|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	10										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		CTGCGCGCGGGGAAGCCGGAC	0.741000													3	15					0	0	0.150653	0	0
ZNF616	90317	broad.mit.edu	37	19	52619123	52619123	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:52619123T>C	ENST00000600228.1	-	4	1555	c.1294A>G	c.(1294-1296)Act>Gct	p.T432A	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TTCTGTCCAGTATGAATTCTC	0.413000													17	97					0	0	0.575678	0	0
DST	667	broad.mit.edu	37	6	56483243	56483243	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:56483243G>T	ENST00000370765.6	-	23	5696	c.5589C>A	c.(5587-5589)ctC>ctA	p.L1863L	DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1278					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTCACACTGGAGCAAAACTA	0.433000													13	52					0.00136819	0.00151187	0.411799	1	0
GPR128	84873	broad.mit.edu	37	3	100365536	100365536	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:100365536T>A	ENST00000273352.3	+	10	1502	c.1234T>A	c.(1234-1236)Tgc>Agc	p.C412S	GPR128_ENST00000475887.1_Missense_Mutation_p.C117S	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	412	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GCGCTGCCGCTGCAACCATAC	0.418000													4	74					0	0	0.150653	0	0
OR52R1	119695	broad.mit.edu	37	11	4825814	4825814	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:4825814T>A	ENST00000380382.1	-	1	33	c.34A>T	c.(34-36)Aaa>Taa	p.K12*	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	0					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)		CTGTTGTTTTTCGTACTTATG	0.313000													3	28					0	0	0.150653	0	0
PLG	5340	broad.mit.edu	37	6	161155042	161155042	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:161155042G>A	ENST00000308192.9	+	13	1666	c.1603G>A	c.(1603-1605)Gat>Aat	p.D535N		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	535	Kringle 5.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCGTAACCCTGATGGTGATGT	0.493000													11	49					0	0	0.479597	0	0
MIR508	574513	broad.mit.edu	37	X	146318475	146318475	+	RNA	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:146318475G>T	ENST00000384857.1	-	0	70					NR_030235.1																						TACTCCAAAAGGCTACAATCA	0.473000													6	13					2.0095e-06	2.53909e-06	0.248553	1	0
IBSP	3381	broad.mit.edu	37	4	88732539	88732539	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:88732539C>A	ENST00000226284.5	+	7	498	c.431C>A	c.(430-432)aCa>aAa	p.T144K		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	144	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		AATAAAGCTACAAAAGAGAAG	0.383000													4	28					0.150653	0.154185	0.150653	1	0
PCOLCE2	26577	broad.mit.edu	37	3	142567087	142567087	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:142567087C>A	ENST00000295992.3	-	3	726	c.420G>T	c.(418-420)atG>atT	p.M140I	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.M140I	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	140	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CAGCGGAGAACATGGCCATGA	0.468000													15	94					3.52763e-06	4.40043e-06	0.520397	1	0
COL9A3	1299	broad.mit.edu	37	20	61453109	61453109	+	Splice_Site	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:61453109G>A	ENST00000343916.3	+	8	373	c.369_splice	c.e8-1	p.G124_splice		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	124	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					TTCCCTCCAGGGAGAGGCAGG	0.692000													6	36					0	0	0.278610	0	0
FAM65C	140876	broad.mit.edu	37	20	49218749	49218749	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:49218749C>A	ENST00000327979.2	-	13	1918	c.1507G>T	c.(1507-1509)Ggg>Tgg	p.G503W	FAM65C_ENST00000045083.2_Missense_Mutation_p.G503W|FAM65C_ENST00000535356.1_Missense_Mutation_p.G507W			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	503										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCTCTGTCCCCGGTTGCCCCT	0.692000													13	37					2.31682e-05	2.78671e-05	0.479597	1	0
SLC39A5	283375	broad.mit.edu	37	12	56629383	56629383	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:56629383G>C	ENST00000266980.4	+	6	1137	c.844G>C	c.(844-846)Gag>Cag	p.E282Q	SLC39A5_ENST00000454355.2_Missense_Mutation_p.E282Q	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	282					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						CGGACTACCAGAGAAGGACCT	0.627000													56	276					0	0	0.870114	0	0
SHROOM3	57619	broad.mit.edu	37	4	77691984	77691984	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:77691984C>G	ENST00000296043.6	+	10	6508	c.5555C>G	c.(5554-5556)tCg>tGg	p.S1852W	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1852	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CTCTCCCTCTCGGGGCGTCTA	0.517000													16	122					0	0	0.479597	0	0
NID2	22795	broad.mit.edu	37	14	52494060	52494060	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:52494060T>A	ENST00000216286.5	-	12	2532	c.2533A>T	c.(2533-2535)Atc>Ttc	p.I845F	NID2_ENST00000541773.1_Intron	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	845						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GGTGGGGTGATCACTGAAAAG	0.557000													6	50					0	0	0.278610	0	0
ZNF646	9726	broad.mit.edu	37	16	31092492	31092492	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:31092492C>A	ENST00000394979.2	+	1	5270	c.4847C>A	c.(4846-4848)gCc>gAc	p.A1616D	ZNF646_ENST00000300850.5_Missense_Mutation_p.A1616D			O15015	ZN646_HUMAN	zinc finger protein 646	1616					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CAGGTGCCAGCCCAGATGGAG	0.642000													5	34					0.00307968	0.00335074	0.278610	1	0
RHO	6010	broad.mit.edu	37	3	129251193	129251193	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:129251193C>A	ENST00000296271.3	+	3	724	c.630C>A	c.(628-630)gtC>gtA	p.V210V		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	210	Retinal chromophore binding (By similarity).				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	TGTTCGTGGTCCACTTCACCA	0.567000													17	93					2.37509e-13	3.90207e-13	0.592651	1	0
FSHR	2492	broad.mit.edu	37	2	49190789	49190789	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:49190789G>T	ENST00000406846.2	-	10	1290	c.1171C>A	c.(1171-1173)Caa>Aaa	p.Q391K	FSHR_ENST00000541117.1_Missense_Mutation_p.Q127K|FSHR_ENST00000304421.4_Missense_Mutation_p.Q365K|FSHR_ENST00000346173.3_Missense_Mutation_p.Q329K	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	391					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	AGTTTATATTGGCTGGTAGTT	0.458000									Gonadal Dysgenesis, 46 XX				4	65					0.00024832	0.000283873	0.150653	1	0
EMB	133418	broad.mit.edu	37	5	49723986	49723986	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:49723986G>A	ENST00000303221.5	-	2	403	c.188C>T	c.(187-189)tCa>tTa	p.S63L	EMB_ENST00000506190.1_5'UTR|EMB_ENST00000514111.1_Missense_Mutation_p.S13L|EMB_ENST00000508934.1_Missense_Mutation_p.S63L	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	63						integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				ACCAGTCAGTGATATGTTATG	0.328000													7	57					0	0	0.335167	0	0
LAMTOR3	8649	broad.mit.edu	37	4	100806824	100806824	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:100806824C>G	ENST00000499666.2	-	5	304	c.112G>C	c.(112-114)Gac>Cac	p.D38H	LAMTOR3_ENST00000226522.8_Intron|LAMTOR3_ENST00000515100.1_5'UTR	NM_001243736.1|NM_021970.3	NP_001230665.1|NP_068805.1	Q9UHA4	LTOR3_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 3	38					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	Ragulator complex	protein binding			endometrium(1)|large_intestine(1)|lung(1)	3						GGAGCATTGTCATTTGCCACT	0.343000													3	26					0	0	0.217242	0	0
OR1J1	347168	broad.mit.edu	37	9	125240059	125240059	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:125240059G>A	ENST00000259357.2	-	1	176	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						AGTCTAGCTGGATGAGCAGCA	0.567000													39	190					0	0	0.859065	0	0
OR52E2	119678	broad.mit.edu	37	11	5080739	5080739	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:5080739G>T	ENST00000321522.2	-	1	118	c.119C>A	c.(118-120)gCa>gAa	p.A40E		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCCTATGAGTGCGATCATGTA	0.512000													17	57					6.94344e-10	1.01409e-09	0.539581	1	0
ZMIZ2	83637	broad.mit.edu	37	7	44802527	44802527	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:44802527G>T	ENST00000309315.4	+	12	1767	c.1644G>T	c.(1642-1644)tcG>tcT	p.S548S	ZMIZ2_ENST00000413916.1_Silent_p.S490S|ZMIZ2_ENST00000265346.7_Silent_p.S522S|ZMIZ2_ENST00000441627.1_Silent_p.S548S|ZMIZ2_ENST00000433667.1_Silent_p.S516S	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	548					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCGTCCGCTCGGTGCTGCAGG	0.642000													96	364					1.85156e-62	3.90082e-62	0.870114	1	0
THSD7A	221981	broad.mit.edu	37	7	11452297	11452297	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:11452297T>A	ENST00000423059.3	-	18	3919	c.3668A>T	c.(3667-3669)gAt>gTt	p.D1223V	AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1223	TSP type-1 12.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TACATTATAATCATAGTGGTA	0.423000										HNSCC(18;0.044)			6	45					0	0	0.335167	0	0
ST18	9705	broad.mit.edu	37	8	53028944	53028944	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:53028944T>A	ENST00000276480.7	-	25	3577	c.2894A>T	c.(2893-2895)gAg>gTg	p.E965V		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	965						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GTTCTCCTCCTCTATCGTCTT	0.428000													10	55					0	0	0.411799	0	0
BRINP2	57795	broad.mit.edu	37	1	177199194	177199194	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:177199194A>T	ENST00000361539.4	+	2	494	c.182A>T	c.(181-183)gAc>gTc	p.D61V		NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		61						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CTGCTCACAGACCGGGGCCCC	0.642000													22	128					0	0	0.624587	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185367198	185367198	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:185367198C>A	ENST00000382199.2	-	14	1681	c.1586G>T	c.(1585-1587)gGc>gTc	p.G529V	IGF2BP2_ENST00000457616.2_Missense_Mutation_p.G535V|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.G486V|IGF2BP2_ENST00000494906.1_5'UTR|IGF2BP2_ENST00000421047.2_Missense_Mutation_p.G472V	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	529	KH 4.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TACGGTCTTGCCACCTTTGCC	0.557000													21	126					1.77063e-15	3.05579e-15	0.693898	1	0
ADAM18	8749	broad.mit.edu	37	8	39486944	39486944	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:39486944G>T	ENST00000265707.5	+	7	619	c.574G>T	c.(574-576)Gtg>Ttg	p.V192L	ADAM18_ENST00000379866.1_Missense_Mutation_p.V192L|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	192	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ATACATTATAGTGGAAAAAGC	0.313000													9	43					3.07112e-06	3.8403e-06	0.387290	1	0
CYBB	1536	broad.mit.edu	37	X	37655391	37655391	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:37655391C>A	ENST00000378588.4	+	6	738	c.671C>A	c.(670-672)gCt>gAt	p.A224D	CYBB_ENST00000536160.1_Intron|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Missense_Mutation_p.A192D	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	224	Ferric oxidoreductase.		A -> G (in XCGD).		electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						ATCCATGGAGCTGAGTGAGTG	0.458000													13	43					9.31168e-06	1.14417e-05	0.435327	1	0
CARD11	84433	broad.mit.edu	37	7	2946434	2946434	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:2946434G>T	ENST00000396946.4	-	25	3706	c.3303C>A	c.(3301-3303)cgC>cgA	p.R1101R		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1101	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCCGGCACACGCGCAGGAACT	0.677000			Mis		DLBCL								5	40					0.0381472	0.0397553	0.278610	1	0
KCNC2	3747	broad.mit.edu	37	12	75601262	75601262	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:75601262T>A	ENST00000549446.1	-	2	1182	c.502A>T	c.(502-504)Atc>Ttc	p.I168F	KCNC2_ENST00000548513.1_Missense_Mutation_p.I168F|KCNC2_ENST00000350228.2_Missense_Mutation_p.I168F|KCNC2_ENST00000540018.1_Missense_Mutation_p.I168F|KCNC2_ENST00000341669.3_Missense_Mutation_p.I168F|KCNC2_ENST00000393288.2_Missense_Mutation_p.I168F|KCNC2_ENST00000298972.1_Missense_Mutation_p.I168F|KCNC2_ENST00000550433.1_Missense_Mutation_p.I168F	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	168					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GTCTCGAAGATGTCCAGCGCC	0.721000													4	32					0	0	0.217242	0	0
PSMG2	56984	broad.mit.edu	37	18	12725465	12725465	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:12725465C>T	ENST00000317615.6	+	7	1412	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	RP11-973H7.2_ENST00000585331.1_RNA	NM_020232.4|NM_147163.1	NP_064617.2|NP_671692.1	Q969U7	PSMG2_HUMAN	proteasome (prosome, macropain) assembly chaperone 2	244					proteasome assembly	nucleus	protein binding			lung(1)|prostate(2)|skin(1)	4						ATCTGCCTCACGGTGGAAAAT	0.353000													20	120					0	0	0.717897	0	0
SIRPB2	284759	broad.mit.edu	37	20	1457903	1457903	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:1457903C>T	ENST00000537284.1	-	5	861	c.525G>A	c.(523-525)gaG>gaA	p.E175E	SIRPB2_ENST00000359801.3_Intron|SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000381630.1_3'UTR			Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	0	Ig-like V-type 2.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCTGGGACTGCTCCCTTCCCA	0.552000													22	58					0	0	0.639603	0	0
DNMT3A	1788	broad.mit.edu	37	2	25457161	25457161	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:25457161A>G	ENST00000264709.3	-	23	3063	c.2726T>C	c.(2725-2727)tTt>tCt	p.F909S	DNMT3A_ENST00000402667.1_Missense_Mutation_p.F686S|DNMT3A_ENST00000321117.5_Missense_Mutation_p.F909S|DNMT3A_ENST00000380746.4_Missense_Mutation_p.F720S	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	909					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.F909C(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACACACGCAAAATACTCCTT	0.502000			"""Mis, F, N, S"""		AML								21	108					0	0	0.769981	0	0
COLEC11	78989	broad.mit.edu	37	2	3691460	3691460	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:3691460G>T	ENST00000403096.3	+	6	981	c.490G>T	c.(490-492)Gcc>Tcc	p.A164S	COLEC11_ENST00000236693.7_Missense_Mutation_p.A187S|COLEC11_ENST00000382062.2_Missense_Mutation_p.A166S|COLEC11_ENST00000404205.1_Missense_Mutation_p.A116S|COLEC11_ENST00000349077.4_Missense_Mutation_p.A190S|COLEC11_ENST00000418971.2_Missense_Mutation_p.A204S|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000402922.1_Missense_Mutation_p.A140S|COLEC11_ENST00000402794.1_Missense_Mutation_p.A140S	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	190	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)		TGGCCTGATGGCCGCATACCT	0.672000													5	31					3.59834e-05	4.28791e-05	0.217242	1	0
STAC	6769	broad.mit.edu	37	3	36570374	36570374	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:36570374C>T	ENST00000273183.3	+	10	1307	c.1007C>T	c.(1006-1008)gCc>gTc	p.A336V	STAC_ENST00000457375.2_Missense_Mutation_p.A275V	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	336	SH3.				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						TTCTTTCCAGCCAACTTTGTT	0.368000													6	29					0	0	0.248553	0	0
CCDC85A	114800	broad.mit.edu	37	2	56420383	56420383	+	Missense_Mutation	SNP	C	C	A	rs146780016	by1000genomes	TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:56420383C>A	ENST00000407595.2	+	2	1550	c.1048C>A	c.(1048-1050)Cat>Aat	p.H350N	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	350	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAGCCTAGAGCATCTCCCCAG	0.617000													7	57					0.0293803	0.0306811	0.248553	1	0
C15orf27	123591	broad.mit.edu	37	15	76496121	76496121	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:76496121C>A	ENST00000388942.3	+	11	1337	c.1061C>A	c.(1060-1062)aCg>aAg	p.T354K		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	354						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						ATGGTCACCACGGCCGCAATA	0.597000													46	288					8.44121e-28	1.70318e-27	0.870114	1	0
SLC5A2	6524	broad.mit.edu	37	16	31497105	31497105	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:31497105C>A	ENST00000330498.3	+	4	378	c.359C>A	c.(358-360)gCg>gAg	p.A120E		NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	120					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						TACCTGACAGCGGGGGTCATC	0.632000													31	129					6.19805e-25	1.22058e-24	0.812448	1	0
PES1	23481	broad.mit.edu	37	22	30984106	30984106	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:30984106C>A	ENST00000354694.6	-	3	266	c.160G>T	c.(160-162)Gtt>Ttt	p.V54F	PES1_ENST00000402284.3_Missense_Mutation_p.V54F|PES1_ENST00000405677.1_5'UTR|PES1_ENST00000402281.1_5'UTR|PES1_ENST00000335214.6_Missense_Mutation_p.V54F	NM_001243225.1|NM_014303.3	NP_001230154.1|NP_055118.1	O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	54	Required for 28S ribosomal RNA processing.|Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						CCCTTGTTAACCTTCTTCTTG	0.463000													10	65					1.08611e-07	1.4624e-07	0.387290	1	0
MYOM2	9172	broad.mit.edu	37	8	2056585	2056585	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:2056585C>A	ENST00000262113.4	+	24	3148	c.3007C>A	c.(3007-3009)Cgt>Agt	p.R1003S	MYOM2_ENST00000523438.1_Missense_Mutation_p.R428S	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1003					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AGAGCTCGAGCGTTTGATGGC	0.473000													16	85					2.37509e-13	3.90207e-13	0.592651	1	0
CLRN2	645104	broad.mit.edu	37	4	17528582	17528582	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:17528582C>T	ENST00000511148.2	+	3	678	c.576C>T	c.(574-576)tgC>tgT	p.C192C		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	192						integral to membrane		p.C209C(1)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						TTTGGATCTGCGTGGCCAGCG	0.512000													12	45					0	0	0.479597	0	0
FAT1	2195	broad.mit.edu	37	4	187518075	187518075	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:187518075T>A	ENST00000441802.2	-	25	12828	c.12619A>T	c.(12619-12621)Agt>Tgt	p.S4207C		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4207					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTTTTCCGACTAATCATCTTA	0.453000										HNSCC(5;0.00058)			40	133					0	0	0.870114	0	0
NBEA	26960	broad.mit.edu	37	13	36167464	36167464	+	Splice_Site	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr13:36167464G>T	ENST00000540320.1	+	47	7710		c.e47-1		NBEA_ENST00000400445.3_Splice_Site|NBEA_ENST00000379939.2_Splice_Site|NBEA_ENST00000310336.4_Splice_Site|NBEA_ENST00000537702.1_Splice_Site|NBEA_ENST00000379922.3_5'UTR			Q8NFP9	NBEA_HUMAN	neurobeachin							cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTTTTGCTTAGGAACCTTTCA	0.408000													11	33					2.27111e-07	3.01639e-07	0.411799	1	0
ADD2	119	broad.mit.edu	37	2	70917972	70917972	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:70917972C>A	ENST00000264436.3	-	8	1239	c.795G>T	c.(793-795)atG>atT	p.M265I	AC007395.3_ENST00000457851.1_RNA|ADD2_ENST00000413157.2_Missense_Mutation_p.M265I|ADD2_ENST00000430656.1_Missense_Mutation_p.M281I|ADD2_ENST00000407644.2_Missense_Mutation_p.M265I|ADD2_ENST00000355733.3_Missense_Mutation_p.M265I	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	265					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CTTCCTGCTCCATTTCCCCAT	0.537000													8	76					3.09899e-07	4.08421e-07	0.307466	1	0
MIB2	142678	broad.mit.edu	37	1	1563986	1563986	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:1563986G>C	ENST00000357210.4	+	16	2476	c.2260G>C	c.(2260-2262)Gcc>Ccc	p.A754P	MIB2_ENST00000378708.1_Missense_Mutation_p.A660P|MIB2_ENST00000520777.1_Missense_Mutation_p.A807P|MIB2_ENST00000518681.1_Missense_Mutation_p.A746P|MIB2_ENST00000378710.3_Missense_Mutation_p.A718P|MIB2_ENST00000378712.1_Missense_Mutation_p.A631P|MIB2_ENST00000360522.4_Missense_Mutation_p.A719P|MIB2_ENST00000505820.2_Missense_Mutation_p.A811P|MIB2_ENST00000504599.1_Missense_Mutation_p.A710P|MIB2_ENST00000355826.5_Missense_Mutation_p.A797P	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	754					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAGTGTCAACGCCGAGGACGA	0.706000													4	19					0	0	0.150653	0	0
WFDC12	128488	broad.mit.edu	37	20	43753035	43753035	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:43753035C>A	ENST00000372785.3	-	1	71	c.54G>T	c.(52-54)ctG>ctT	p.L18L		NM_080869.1	NP_543145.1	Q8WWY7	WFD12_HUMAN	WAP four-disulfide core domain 12	18					defense response to bacterium	extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6		Myeloproliferative disorder(115;0.0122)				CCACAGCCACCAGGGTCACAA	0.617000													39	190					3.94638e-17	7.04784e-17	0.870114	1	0
SYNE1	23345	broad.mit.edu	37	6	152523056	152523056	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:152523056G>C	ENST00000367255.5	-	127	23649	c.23048C>G	c.(23047-23049)gCa>gGa	p.A7683G	SYNE1_ENST00000341594.5_Missense_Mutation_p.A7295G|SYNE1_ENST00000356820.4_Missense_Mutation_p.A2207G|SYNE1_ENST00000265368.4_Missense_Mutation_p.A7683G|SYNE1_ENST00000423061.1_Missense_Mutation_p.A7612G|SYNE1_ENST00000448038.1_Missense_Mutation_p.A7612G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7683					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGGGAATCTGCTATTCCTTT	0.413000										HNSCC(10;0.0054)			8	36					0	0	0.335167	0	0
CCNB3	85417	broad.mit.edu	37	X	50053081	50053081	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:50053081G>T	ENST00000376042.1	+	6	2210	c.1912G>T	c.(1912-1914)Gaa>Taa	p.E638*	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Nonsense_Mutation_p.E638*			Q8WWL7	CCNB3_HUMAN	cyclin B3	638					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CCTCTCCCAGGAACCATCTGC	0.453000													8	10					2.74318e-10	4.0672e-10	0.335167	1	0
WDR49	151790	broad.mit.edu	37	3	167217976	167217976	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:167217976C>A	ENST00000308378.3	-	14	2245	c.1940G>T	c.(1939-1941)cGt>cTt	p.R647L	WDR49_ENST00000453925.2_Missense_Mutation_p.R612L|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.R472L	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	647										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AATTTGGGGACGCTCTTCCTC	0.418000													23	131					7.07758e-08	9.63716e-08	0.681144	1	0
OTOGL	283310	broad.mit.edu	37	12	80658854	80658854	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:80658854G>A	ENST00000458043.2	+	19	2067	c.2061G>A	c.(2059-2061)ggG>ggA	p.G687G	OTOGL_ENST00000547103.1_Silent_p.G687G	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTAGCCCTGGGCTGTACTATC	0.527000													51	193					0	0	0.870114	0	0
KLHL23	151230	broad.mit.edu	37	2	170597930	170597930	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:170597930G>T	ENST00000392647.2	+	3	1493	c.1249G>T	c.(1249-1251)Gtt>Ttt	p.V417F	KLHL23_ENST00000272797.4_Missense_Mutation_p.V417F|KLHL23_ENST00000602521.1_5'UTR	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	417										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CTTACATGATGTTATCTACGT	0.423000													19	111					1.55469e-16	2.75495e-16	0.654019	1	0
CDH7	1005	broad.mit.edu	37	18	63511051	63511051	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:63511051C>G	ENST00000536984.2	+	7	1679	c.985C>G	c.(985-987)Ctg>Gtg	p.L329V	CDH7_ENST00000323011.3_Missense_Mutation_p.L329V|CDH7_ENST00000397968.2_Missense_Mutation_p.L329V			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	329	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTTACAGGAGCTGGATTTTGA	0.423000													7	47					0	0	0.361761	0	0
HOXD11	3237	broad.mit.edu	37	2	176973778	176973778	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:176973778C>A	ENST00000249504.5	+	2	995	c.925C>A	c.(925-927)Caa>Aaa	p.Q309K	HOXD11_ENST00000498438.1_3'UTR|HOXD10_ENST00000490088.2_3'UTR	NM_021192.2	NP_067015.2	P31277	HXD11_HUMAN	homeobox D11	309						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CACTGACCGGCAAGTCAAAAT	0.443000			T	NUP98	AML								13	145					0.000422831	0.000479365	0.500413	1	0
DISC1	27185	broad.mit.edu	37	1	231954095	231954095	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:231954095A>G	ENST00000439617.2	+	9	1866	c.1813A>G	c.(1813-1815)Aaa>Gaa	p.K605E	DISC1_ENST00000535983.1_Missense_Mutation_p.K605E|DISC1_ENST00000602281.1_Missense_Mutation_p.K605E|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366633.3_Missense_Mutation_p.K605E|DISC1_ENST00000537876.1_Intron|DISC1_ENST00000539444.1_Silent_p.L570L|DISC1_ENST00000366636.4_Missense_Mutation_p.K605E|DISC1_ENST00000602873.1_Silent_p.*202*|TRAX_ENST00000602962.1_3'UTR	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	605	Interaction with ATF4 and ATF5.|Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				CTGGACGGCTAAAGACCTCAC	0.468000													23	97					0	0	0.693898	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105363419	105363419	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:105363419C>A	ENST00000369774.4	-	15	1832	c.1556G>T	c.(1555-1557)cGg>cTg	p.R519L	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R354L|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R491L|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R386L|SH3PXD2A_ENST00000315994.6_5'UTR			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	519					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CACCTTGGGCCGGGTCAGCGT	0.677000													21	70					2.98393e-07	3.95034e-07	0.639603	1	0
NUDT12	83594	broad.mit.edu	37	5	102890538	102890538	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:102890538C>A	ENST00000230792.2	-	5	1077	c.981G>T	c.(979-981)atG>atT	p.M327I	NUDT12_ENST00000507423.1_Missense_Mutation_p.M309I|NUDT12_ENST00000515407.1_5'UTR	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	327	Nudix hydrolase.					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		GAATAACTTGCATGATTACTA	0.378000													3	57					0.004672	0.00502988	0.115264	1	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													4	99					0	0	0.150653	0	0
ATP1A2	477	broad.mit.edu	37	1	160106377	160106377	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:160106377G>T	ENST00000361216.3	+	19	2670	c.2581G>T	c.(2581-2583)Ggt>Tgt	p.G861C	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.G861C	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	861					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCAGGCACTGGGTGGCTTCTT	0.597000													20	116					2.50493e-22	4.79489e-22	0.681144	1	0
CCDC142	84865	broad.mit.edu	37	2	74709298	74709298	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:74709298C>A	ENST00000393965.3	-	1	1063	c.667G>T	c.(667-669)Gtc>Ttc	p.V223F	CCDC142_ENST00000290418.4_Missense_Mutation_p.V223F|CCDC142_ENST00000471713.1_5'UTR	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	223										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						GCCCCTGGGACGTGGCTCAAG	0.687000													9	67					1.58986e-06	2.02508e-06	0.361761	1	0
NPAS4	266743	broad.mit.edu	37	11	66191663	66191663	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:66191663T>G	ENST00000311034.2	+	7	1478	c.1302T>G	c.(1300-1302)tgT>tgG	p.C434W		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	434					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						CAGGAGGCTGTGCCTTCCTCT	0.562000													37	224					0	0	0.827153	0	0
GPRASP1	9737	broad.mit.edu	37	X	101912304	101912304	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:101912304G>C	ENST00000537097.1	+	6	4276	c.3463G>C	c.(3463-3465)Gag>Cag	p.E1155Q	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.E1155Q|GPRASP1_ENST00000415986.1_Missense_Mutation_p.E1155Q|GPRASP1_ENST00000444152.1_Missense_Mutation_p.E1155Q	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1155	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGGTTCTGAAGAGTTTGAAGA	0.383000													9	41					0	0	0.335167	0	0
LILRA2	11027	broad.mit.edu	37	19	55098702	55098702	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:55098702G>A	ENST00000251377.3	+	9	1474	c.1341G>A	c.(1339-1341)gtG>gtA	p.V447V	LILRA2_ENST00000391738.3_Silent_p.V447V|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Silent_p.V430V|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Silent_p.V418V					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		ATTACACAGTGGAGAATCTCA	0.572000													14	165					0	0	0.557998	0	0
SYNE2	23224	broad.mit.edu	37	14	64587670	64587670	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:64587670C>A	ENST00000357395.3	+	69	13348	c.2204C>A	c.(2203-2205)tCa>tAa	p.S735*	SYNE2_ENST00000553455.1_Nonsense_Mutation_p.S69*|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.S4365*|SYNE2_ENST00000344113.4_Nonsense_Mutation_p.S4350*|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Nonsense_Mutation_p.S735*|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.S4350*|SYNE2_ENST00000555002.1_Nonsense_Mutation_p.S984*			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4350					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGAAATCCTCAGAGCCAGAG	0.363000													6	55					0.0381472	0.0397553	0.278610	1	0
MRE11A	4361	broad.mit.edu	37	11	94153335	94153335	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:94153335C>A	ENST00000323929.3	-	20	2305	c.2083G>T	c.(2083-2085)Gat>Tat	p.D695Y	MRE11A_ENST00000407439.3_Missense_Mutation_p.D698Y|MRE11A_ENST00000393241.4_Missense_Mutation_p.D694Y|MRE11A_ENST00000323977.3_Missense_Mutation_p.D667Y	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	695					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				ATAAAAGGATCATCATCATCA	0.318000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				10	43					2.27111e-07	3.01639e-07	0.411799	1	0
ZNF831	128611	broad.mit.edu	37	20	57768946	57768946	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:57768946T>A	ENST00000371030.2	+	1	2872	c.2872T>A	c.(2872-2874)Tgg>Agg	p.W958R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	958						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCCCATTCCCTGGGGACCAAG	0.592000													37	171					0	0	0.870114	0	0
C9orf96	169436	broad.mit.edu	37	9	136253251	136253251	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:136253251C>A	ENST00000371957.3	+	5	422	c.315C>A	c.(313-315)tgC>tgA	p.C105*	C9orf96_ENST00000371955.1_De_novo_Start_InFrame|C9orf96_ENST00000426926.2_Nonsense_Mutation_p.C105*	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	105	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TGTACCTCTGCCTGGTGATGG	0.567000													10	63					1.08611e-07	1.4624e-07	0.387290	1	0
PRR23A	729627	broad.mit.edu	37	3	138724582	138724582	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:138724582C>A	ENST00000383163.2	-	1	528	c.529G>T	c.(529-531)Gct>Tct	p.A177S		NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	177										endometrium(3)|kidney(1)|lung(7)	11						TAGAGCCCAGCGGCTGAGCCG	0.662000													4	26					0.00024832	0.000283873	0.150653	1	0
TRIM11	81559	broad.mit.edu	37	1	228582791	228582791	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:228582791C>A	ENST00000493030.2	-	5	4356	c.647G>T	c.(646-648)cGc>cTc	p.R216L	TRIM11_ENST00000284551.6_Missense_Mutation_p.R341L|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_5'UTR			Q96F44	TRI11_HUMAN	tripartite motif containing 11	341					response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				CCAGTAGTGGCGGCCTGAGGT	0.711000													6	39					3.59834e-05	4.28791e-05	0.217242	1	0
AMPD2	271	broad.mit.edu	37	1	110170757	110170757	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:110170757G>T	ENST00000256578.3	+	10	1655	c.1295G>T	c.(1294-1296)cGc>cTc	p.R432L	AMPD2_ENST00000342115.4_Missense_Mutation_p.R351L|AMPD2_ENST00000528667.1_Missense_Mutation_p.R432L|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000393688.3_Missense_Mutation_p.R313L|AMPD2_ENST00000528454.1_Missense_Mutation_p.R314L|AMPD2_ENST00000358729.4_Missense_Mutation_p.R357L	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	432					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CATCTGCTGCGCTTCATCAAG	0.587000													20	68					9.39395e-14	1.55832e-13	0.706142	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18829950	18829950	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:18829950G>T	ENST00000380548.4	+	23	4563	c.4224G>T	c.(4222-4224)ctG>ctT	p.L1408L	ADAMTSL1_ENST00000380545.5_Silent_p.L109L	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1408	Ig-like C2-type 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AGCTGGTCCTGGATCCTGGGA	0.547000													3	15					0.004672	0.00502988	0.115264	1	0
SPTB	6710	broad.mit.edu	37	14	65237802	65237802	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:65237802C>A	ENST00000389722.3	-	26	5652	c.5599G>T	c.(5599-5601)Gct>Tct	p.A1867S	SPTB_ENST00000556626.1_Missense_Mutation_p.A1867S|SPTB_ENST00000389721.5_Missense_Mutation_p.A1867S|SPTB_ENST00000389720.3_Missense_Mutation_p.A1867S|SPTB_ENST00000542895.1_Missense_Mutation_p.A1867S	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1867					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTCTCCCCAGCATATGCTGTC	0.617000													38	198					1.35964e-18	2.49774e-18	0.870114	1	0
PKP2	5318	broad.mit.edu	37	12	32974410	32974410	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:32974410C>T	ENST00000340811.4	-	9	2001	c.1893G>A	c.(1891-1893)gaG>gaA	p.E631E	PKP2_ENST00000070846.6_Silent_p.E675E	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	675			Y -> C (in ARVD9).		cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GCCACAGCCACTCCACGCCCT	0.498000													15	40					0	0	0.520397	0	0
GPR45	11250	broad.mit.edu	37	2	105858396	105858396	+	Silent	SNP	C	C	A	rs2576727	byFrequency	TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:105858396C>A	ENST00000258456.1	+	1	197	c.81C>A	c.(79-81)acC>acA	p.T27T		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	27						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CGGGGTCCACCCAGTTGCCCG	0.597000													25	154					2.48779e-11	3.87326e-11	0.693898	1	0
ZNF713	349075	broad.mit.edu	37	7	55990947	55990947	+	Silent	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:55990947G>C	ENST00000429591.2	+	2	179	c.141G>C	c.(139-141)gtG>gtC	p.V47V	ZNF713_ENST00000482436.1_3'UTR|MRPS17_ENST00000426595.1_Silent_p.V47V	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	47	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATCGAGACGTGATGCTGGAGA	0.512000													20	81					0	0	0.693898	0	0
MID1	4281	broad.mit.edu	37	X	10535315	10535315	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:10535315C>A	ENST00000317552.4	-	2	673	c.273G>T	c.(271-273)gtG>gtT	p.V91V	MID1_ENST00000453318.2_Silent_p.V91V|MID1_ENST00000380785.1_Silent_p.V91V|MID1_ENST00000380780.1_Silent_p.V91V|MID1_ENST00000380787.1_Silent_p.V91V|MID1_ENST00000380779.1_Silent_p.V91V|MID1_ENST00000380782.2_Silent_p.V91V	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	91					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGGGCCCGCTCACTGATGCTT	0.612000													51	72					8.33888e-18	1.51027e-17	0.870114	1	0
FAT4	79633	broad.mit.edu	37	4	126371597	126371597	+	Silent	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:126371597T>A	ENST00000394329.3	+	9	9439	c.9426T>A	c.(9424-9426)tcT>tcA	p.S3142S	FAT4_ENST00000335110.5_Silent_p.S1440S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3142	Cadherin 30.				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						TCAATTCTTCTACAGGTATAT	0.393000													14	48					0	0	0.479597	0	0
LGR5	8549	broad.mit.edu	37	12	71978462	71978462	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:71978462C>T	ENST00000266674.5	+	18	2983	c.2672C>T	c.(2671-2673)cCa>cTa	p.P891L	LGR5_ENST00000536515.1_Missense_Mutation_p.P819L|LGR5_ENST00000540815.2_Missense_Mutation_p.P867L			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	891						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CCAGCTTATCCAGTGACTGAG	0.448000													22	177					0	0	0.654019	0	0
MFSD2A	84879	broad.mit.edu	37	1	40434350	40434350	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:40434350C>T	ENST00000372809.5	+	13	1644	c.1501C>T	c.(1501-1503)Ctc>Ttc	p.L501F	MFSD2A_ENST00000420632.2_Missense_Mutation_p.L332F|MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000372811.5_Missense_Mutation_p.L488F	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	501					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GGGCCTGCTGCTCTTCAAAAT	0.582000													30	156					0	0	0.760397	0	0
ZNF518B	85460	broad.mit.edu	37	4	10445794	10445794	+	Missense_Mutation	SNP	G	G	T	rs144356708	byFrequency	TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:10445794G>T	ENST00000326756.3	-	3	2597	c.2159C>A	c.(2158-2160)tCc>tAc	p.S720Y		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	720					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						AGTACCTGTGGAATGGCCAAG	0.443000													23	102					1.33986e-20	2.51776e-20	0.681144	1	0
DSP	1832	broad.mit.edu	37	6	7565712	7565712	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:7565712G>T	ENST00000379802.3	+	7	1239	c.898G>T	c.(898-900)Gac>Tac	p.D300Y	DSP_ENST00000418664.2_Missense_Mutation_p.D300Y	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	300	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CGACTGGAGCGACAAGAACAC	0.552000													12	66					5.50884e-06	6.79743e-06	0.411799	1	0
GSK3B	2932	broad.mit.edu	37	3	119721030	119721030	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:119721030C>T	ENST00000264235.8	-	2	1127	c.145G>A	c.(145-147)Gac>Aac	p.D49N	GSK3B_ENST00000316626.5_Missense_Mutation_p.D49N	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	49					axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	TGTGGCCTGTCTGGACCCTGC	0.448000													43	304					0	0	0.870114	0	0
OR2D3	120775	broad.mit.edu	37	11	6942558	6942558	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:6942558C>A	ENST00000317834.3	+	1	354	c.326C>A	c.(325-327)tCt>tAt	p.S109Y		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAAACCATTTCTTTTTATGGG	0.418000													18	109					3.32936e-07	4.36819e-07	0.539581	1	0
CALCR	799	broad.mit.edu	37	7	93101724	93101724	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:93101724T>C	ENST00000359558.2	-	7	745	c.446A>G	c.(445-447)tAt>tGt	p.Y149C	CALCR_ENST00000394441.1_Missense_Mutation_p.Y131C|CALCR_ENST00000360249.4_Missense_Mutation_p.Y131C|CALCR_ENST00000426151.1_Missense_Mutation_p.Y131C|CALCR_ENST00000421592.1_Missense_Mutation_p.Y131C	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	131					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GCACATAGTATAGTTGGACCA	0.343000													6	145					0	0	0.307466	0	0
OR4C11	219429	broad.mit.edu	37	11	55371287	55371287	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:55371287A>T	ENST00000302231.4	-	1	587	c.563T>A	c.(562-564)aTg>aAg	p.M188K		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GTAAGTGTCCATGCAGGCAAG	0.398000													17	93					0	0	0.557998	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90497974	90497974	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:90497974G>A	ENST00000325643.5	+	1	234	c.168G>A	c.(166-168)tgG>tgA	p.W56*		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		GTGCCACATGGCTGAGCCCTA	0.547000													5	24					0	0	0.278610	0	0
XIRP2	129446	broad.mit.edu	37	2	168108201	168108201	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:168108201G>T	ENST00000409195.1	+	9	10388	c.10299G>T	c.(10297-10299)aaG>aaT	p.K3433N	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K3211N|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K3433N|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3258					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						TTGAGTCGAAGATGAAAACCT	0.448000													5	43					0.00116845	0.00129323	0.217242	1	0
PHF2	5253	broad.mit.edu	37	9	96408013	96408013	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:96408013G>T	ENST00000359246.4	+	4	769	c.402G>T	c.(400-402)ggG>ggT	p.G134G	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	134					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AGAAAGACGGGCTGGGTCTGG	0.627000													14	95					1.99824e-07	2.673e-07	0.520397	1	0
SLC12A1	6557	broad.mit.edu	37	15	48566828	48566828	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:48566828C>G	ENST00000396577.3	+	20	2678	c.2463C>G	c.(2461-2463)atC>atG	p.I821M	SLC12A1_ENST00000558405.1_Missense_Mutation_p.I821M|SLC12A1_ENST00000380993.3_Missense_Mutation_p.I821M	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	821					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GATTTGACATCTCTCAGGTTC	0.403000													6	17					0	0	0.278610	0	0
USH2A	7399	broad.mit.edu	37	1	215853703	215853703	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:215853703C>A	ENST00000366943.2	-	62	12468	c.12082G>T	c.(12082-12084)Gcc>Tcc	p.A4028S	USH2A_ENST00000307340.3_Missense_Mutation_p.A4028S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4028	Fibronectin type-III 25.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.A4028S(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TACAGGTGGGCTTGATGGCTT	0.398000										HNSCC(13;0.011)			14	127					8.10497e-08	1.10142e-07	0.592651	1	0
FAM65B	9750	broad.mit.edu	37	6	24843530	24843530	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:24843530G>C	ENST00000259698.4	-	14	1655	c.1480C>G	c.(1480-1482)Caa>Gaa	p.Q494E	FAM65B_ENST00000378023.4_Missense_Mutation_p.Q444E|FAM65B_ENST00000510784.2_Missense_Mutation_p.Q478E|FAM65B_ENST00000538035.1_Missense_Mutation_p.Q473E|FAM65B_ENST00000540914.1_Missense_Mutation_p.Q444E	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	494					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TTTGGCTCTTGGCCTTCTCCC	0.592000													8	42					0	0	0.335167	0	0
LETM2	137994	broad.mit.edu	37	8	38258379	38258379	+	Silent	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:38258379A>T	ENST00000379957.4	+	6	919	c.792A>T	c.(790-792)acA>acT	p.T264T	LETM2_ENST00000297720.5_Silent_p.T169T|RP11-350N15.3_ENST00000533301.1_RNA|LETM2_ENST00000524874.1_Silent_p.T216T|LETM2_ENST00000523983.2_Silent_p.T217T|LETM2_ENST00000527710.1_Silent_p.T50T	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	264	LETM1.					integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			AGGTCCAGACAGGCCACAAGC	0.443000													34	201					0	0	0.847076	0	0
E2F7	144455	broad.mit.edu	37	12	77419373	77419373	+	Missense_Mutation	SNP	C	C	A	rs138091106	byFrequency	TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:77419373C>A	ENST00000322886.7	-	12	2765	c.2530G>T	c.(2530-2532)Gtg>Ttg	p.V844L	E2F7_ENST00000416496.2_Intron	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	844					cell cycle	transcription factor complex	DNA binding|identical protein binding	p.V844M(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GGATGTCCCACGTAAACGGGG	0.498000													7	161					2.17888e-05	2.62694e-05	0.335167	1	0
LIMS2	55679	broad.mit.edu	37	2	128412415	128412415	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:128412415C>A	ENST00000409455.1	-	3	847	c.212G>T	c.(211-213)tGt>tTt	p.C71F	LIMS2_ENST00000410011.1_Missense_Mutation_p.C71F|LIMS2_ENST00000409808.2_Missense_Mutation_p.C71F|LIMS2_ENST00000545738.2_Missense_Mutation_p.C98F|LIMS2_ENST00000324938.5_Missense_Mutation_p.C100F|LIMS2_ENST00000355119.4_Missense_Mutation_p.C76F			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	76	LIM zinc-binding 1.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		GCAGGATCCACAGCACGGAGC	0.597000													6	73					3.07112e-06	3.8403e-06	0.387290	1	0
FLRT2	23768	broad.mit.edu	37	14	86089277	86089277	+	Silent	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:86089277T>A	ENST00000330753.4	+	2	2186	c.1419T>A	c.(1417-1419)ggT>ggA	p.G473G	FLRT2_ENST00000554746.1_Silent_p.G473G	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	473	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TAGTCAGCGGTGAGAAGCAAC	0.517000													24	133					0	0	0.654019	0	0
ENPP6	133121	broad.mit.edu	37	4	185038162	185038162	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:185038162G>T	ENST00000296741.2	-	5	843	c.702C>A	c.(700-702)aaC>aaA	p.N234K		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	234					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		AAATAATGACGTTCAGGCGGT	0.502000													16	40					5.26018e-13	8.57338e-13	0.608945	1	0
SNHG14	104472715	broad.mit.edu	37	15	25230255	25230255	+	RNA	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:25230255G>T	ENST00000551631.2	+	0	887				SNHG14_ENST00000551361.1_RNA|SNORD64_ENST00000386683.1_RNA	NR_001293.1																						CTGGATTTGTGATGAGCTGTG	0.393000													4	86					0.0293803	0.0306811	0.248553	1	0
TAPT1	202018	broad.mit.edu	37	4	16165041	16165041	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:16165041C>T	ENST00000405303.2	-	14	1677	c.1594G>A	c.(1594-1596)Ggt>Agt	p.G532S	TAPT1_ENST00000399920.3_Missense_Mutation_p.G421S|TAPT1_ENST00000304584.8_3'UTR	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	532						integral to membrane	growth hormone-releasing hormone receptor activity			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						TTCTCGTCACCATCTGGAGTT	0.388000													19	105					0	0	0.575678	0	0
TRBV19	28568	broad.mit.edu	37	7	142326880	142326880	+	RNA	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:142326880C>A	ENST00000390393.3	+	0	386																											GGACCCAGGGCAAGGGCTGAG	0.468000													60	351					1.76847e-28	3.5788e-28	0.870114	1	0
POLL	27343	broad.mit.edu	37	10	103343344	103343344	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:103343344C>A	ENST00000370162.3	-	6	1480	c.986G>T	c.(985-987)aGt>aTt	p.S329I	POLL_ENST00000436284.2_3'UTR|POLL_ENST00000339310.3_Missense_Mutation_p.S52I|DPCD_ENST00000416979.2_Intron|POLL_ENST00000456836.2_Missense_Mutation_p.S66I|DPCD_ENST00000470165.1_Intron|POLL_ENST00000299206.4_Missense_Mutation_p.S329I|POLL_ENST00000370158.3_Missense_Mutation_p.S54I|POLL_ENST00000370169.1_Missense_Mutation_p.S329I|POLL_ENST00000370172.1_Missense_Mutation_p.S241I	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	329					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CACGCTCTCACTGATATGGTC	0.572000								DNA polymerases (catalytic subunits)					14	53					5.01169e-05	5.91374e-05	0.520397	1	0
PALD1	27143	broad.mit.edu	37	10	72294242	72294242	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:72294242C>A	ENST00000263563.6	+	9	1352	c.1084C>A	c.(1084-1086)Ctc>Atc	p.L362I		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		CCAGAGCTTTCTCCGCATGGT	0.627000													7	24					0.0293803	0.0306811	0.248553	1	0
ITGA2	3673	broad.mit.edu	37	5	52347346	52347346	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:52347346G>T	ENST00000296585.5	+	7	879	c.736G>T	c.(736-738)Ggt>Tgt	p.G246C		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	246	VWFA.				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ATCCCAATATGGTGGGGACCT	0.343000													35	122					9.62906e-15	1.63161e-14	0.819951	1	0
BICD1	636	broad.mit.edu	37	12	32491885	32491885	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:32491885G>T	ENST00000281474.5	+	8	2839	c.2736G>T	c.(2734-2736)aaG>aaT	p.K912N	BICD1_ENST00000548411.1_Intron	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	912					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GGCTCAGCAAGGAAAAAAGGT	0.473000													21	47					1.77063e-15	3.05579e-15	0.693898	1	0
SLC16A10	117247	broad.mit.edu	37	6	111543326	111543326	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:111543326A>T	ENST00000368850.3	+	5	980	c.494A>T	c.(493-495)gAg>gTg	p.E165V	SLC16A10_ENST00000368851.5_Missense_Mutation_p.E479V			Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	479					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		AAGCAAAGAGAGATCAGTAAA	0.438000													15	70					0	0	0.520397	0	0
CACNA1G	8913	broad.mit.edu	37	17	48695604	48695604	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:48695604G>T	ENST00000352832.5	+	30	5597	c.5225G>T	c.(5224-5226)tGt>tTt	p.C1742F	CACNA1G_ENST00000442258.2_Missense_Mutation_p.C1735F|CACNA1G_ENST00000512389.1_Missense_Mutation_p.C1765F|CACNA1G_ENST00000507510.2_Missense_Mutation_p.C1776F|CACNA1G_ENST00000514181.1_Missense_Mutation_p.C1751F|CACNA1G_ENST00000513689.2_Missense_Mutation_p.C1731F|CACNA1G_ENST00000513964.1_Missense_Mutation_p.C1731F|CACNA1G_ENST00000514079.1_Missense_Mutation_p.C1783F|CACNA1G_ENST00000503485.1_Missense_Mutation_p.C1742F|CACNA1G_ENST00000507609.1_Missense_Mutation_p.C1769F|CACNA1G_ENST00000510366.1_Missense_Mutation_p.C1724F|CACNA1G_ENST00000507336.1_Missense_Mutation_p.C1765F|CACNA1G_ENST00000510115.1_Missense_Mutation_p.C1742F|CACNA1G_ENST00000502264.1_Missense_Mutation_p.C1753F|CACNA1G_ENST00000507896.1_Missense_Mutation_p.C1765F|CACNA1G_ENST00000515411.1_Missense_Mutation_p.C1758F|CACNA1G_ENST00000515165.1_Missense_Mutation_p.C1776F|CACNA1G_ENST00000514717.1_Missense_Mutation_p.C1719F|CACNA1G_ENST00000360761.4_Missense_Mutation_p.C1753F|CACNA1G_ENST00000359106.5_Missense_Mutation_p.C1776F|CACNA1G_ENST00000354983.4_Missense_Mutation_p.C1742F|CACNA1G_ENST00000429973.2_Missense_Mutation_p.C1758F|CACNA1G_ENST00000515765.1_Missense_Mutation_p.C1765F|CACNA1G_ENST00000505165.1_Missense_Mutation_p.C1776F|CACNA1G_ENST00000358244.5_Missense_Mutation_p.C1742F	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1776					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACACACCCCTGTGAGGGCCTG	0.602000													14	93					6.94344e-10	1.01409e-09	0.539581	1	0
PLCL2	23228	broad.mit.edu	37	3	17053581	17053581	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:17053581A>T	ENST00000418129.2	+	2	2830	c.2365A>T	c.(2365-2367)Acc>Tcc	p.T789S	PLCL2_ENST00000396755.2_Missense_Mutation_p.T789S|PLCL2_ENST00000432376.1_Missense_Mutation_p.T789S	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	915	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GTGGATTAAAACCGTGGATGA	0.453000													10	93					0	0	0.435327	0	0
POSTN	10631	broad.mit.edu	37	13	38160987	38160987	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr13:38160987C>G	ENST00000379747.4	-	6	802	c.685G>C	c.(685-687)Gtg>Ctg	p.V229L	POSTN_ENST00000379743.4_Missense_Mutation_p.V229L|POSTN_ENST00000379749.4_Missense_Mutation_p.V229L|POSTN_ENST00000379742.4_Missense_Mutation_p.V229L|POSTN_ENST00000541481.1_Missense_Mutation_p.V229L|POSTN_ENST00000541179.1_Missense_Mutation_p.V229L	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	229	FAS1 1.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TGTGTAAGCACACGGTCAATG	0.378000													9	49					0	0	0.435327	0	0
CASR	846	broad.mit.edu	37	3	122002966	122002966	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:122002966A>T	ENST00000498619.1	+	7	2633	c.2195A>T	c.(2194-2196)aAc>aTc	p.N732I	CASR_ENST00000490131.1_Missense_Mutation_p.N722I|CASR_ENST00000296154.5_Missense_Mutation_p.N722I	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	722					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGGGGGCTCAACCTGCAGTTC	0.572000													8	49					0	0	0.307466	0	0
EPAS1	2034	broad.mit.edu	37	2	46609651	46609651	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:46609651G>T	ENST00000263734.3	+	15	2885	c.2375G>T	c.(2374-2376)gGg>gTg	p.G792V		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	792					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ATCAGTCCCGGGGAGAACAGC	0.602000													8	132					3.86212e-05	4.5625e-05	0.361761	1	0
KIAA1324L	222223	broad.mit.edu	37	7	86539316	86539316	+	Splice_Site	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:86539316C>A	ENST00000450689.2	-	16	2356	c.2169_splice	c.e16-1	p.G724_splice	KIAA1324L_ENST00000297222.6_Splice_Site_p.G484_splice|KIAA1324L_ENST00000444627.1_Splice_Site_p.G653_splice|KIAA1324L_ENST00000416314.1_Splice_Site_p.G557_splice	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	724						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CATCTTCTTCCCCTAGGAAAA	0.383000													7	26					0.0293803	0.0306811	0.248553	1	0
SNHG14	104472715	broad.mit.edu	37	15	25468315	25468315	+	RNA	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:25468315C>A	ENST00000453082.2	+	0	863					NR_003343.1																						TCCTGGCGCCCTGGTCTCCTG	0.577000													12	42					2.27111e-07	3.01639e-07	0.411799	1	0
GSN	2934	broad.mit.edu	37	9	124094768	124094768	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:124094768G>T	ENST00000373823.3	+	25	2988	c.2083G>T	c.(2083-2085)Gtg>Ttg	p.V695L	GSN_ENST00000341272.2_Missense_Mutation_p.V695L|GSN_ENST00000373806.1_Missense_Mutation_p.V171L|GSN_ENST00000449733.1_Missense_Mutation_p.V695L|GSN_ENST00000412819.1_Missense_Mutation_p.V695L|GSN_ENST00000373808.2_Missense_Mutation_p.V695L|GSN_ENST00000394353.2_Missense_Mutation_p.V706L|GSN_ENST00000373818.4_Missense_Mutation_p.V746L|GSN_ENST00000436847.1_Missense_Mutation_p.V706L|GSN_ENST00000545652.1_Missense_Mutation_p.V703L			P06396	GELS_HUMAN	gelsolin	746	Actin-binding, Ca-sensitive (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GCCCATCACCGTGGTGAAGCA	0.572000											OREG0019445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	108					2.89027e-11	4.45927e-11	0.624587	1	0
FREM2	341640	broad.mit.edu	37	13	39263818	39263818	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr13:39263818C>A	ENST00000280481.7	+	1	2553	c.2337C>A	c.(2335-2337)atC>atA	p.I779I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	779					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AAGCCCAGATCAACCATCATA	0.552000													6	49					0.00198382	0.00217109	0.248553	1	0
VCAN	1462	broad.mit.edu	37	5	82808160	82808160	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:82808160G>A	ENST00000265077.3	+	6	1552	c.987G>A	c.(985-987)gaG>gaA	p.E329E	VCAN_ENST00000502527.2_Silent_p.E329E|VCAN_ENST00000343200.5_Silent_p.E329E|VCAN_ENST00000513984.1_Silent_p.E329E|VCAN_ENST00000342785.4_Silent_p.E329E|VCAN_ENST00000512590.2_Silent_p.E281E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	329	Link 2.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ATCGTTTTGAGAACCAGACAG	0.488000													10	19					0	0	0.435327	0	0
IFNA10	3446	broad.mit.edu	37	9	21206637	21206637	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:21206637G>C	ENST00000357374.2	-	1	505	c.460C>G	c.(460-462)Cta>Gta	p.L154V		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	154					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		CTCTCTATTAGATAAAGAGTG	0.448000													6	460					0	0	0.248553	0	0
SF1	7536	broad.mit.edu	37	11	64536954	64536954	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:64536954G>A	ENST00000377390.3	-	6	944	c.607C>T	c.(607-609)Ctt>Ttt	p.L203F	SF1_ENST00000422298.2_Missense_Mutation_p.L88F|SF1_ENST00000433274.2_Missense_Mutation_p.L177F|SF1_ENST00000377394.3_Missense_Mutation_p.L203F|SF1_ENST00000227503.9_Missense_Mutation_p.L203F|SF1_ENST00000377387.1_Missense_Mutation_p.L328F|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000334944.5_Missense_Mutation_p.L203F	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	203	KH.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						AGGGCATGAAGTGGCTCATCT	0.522000													46	238					0	0	0.870114	0	0
KCNH7	90134	broad.mit.edu	37	2	163694975	163694975	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:163694975G>A	ENST00000332142.5	-	1	153	c.54C>T	c.(52-54)atC>atT	p.I18I	KCNH7_ENST00000328032.4_Silent_p.I18I	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	18					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ATTTCCGAATGATGGTCCCCA	0.562000													12	56					0	0	0.500413	0	0
DSCAM	1826	broad.mit.edu	37	21	41385262	41385262	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr21:41385262C>A	ENST00000400454.1	-	33	6215	c.5738G>T	c.(5737-5739)cGa>cTa	p.R1913L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1913				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACCACCTCGGTTTAACAA	0.507000													4	73					1.23904e-05	1.50533e-05	0.184627	1	0
PAPPA2	60676	broad.mit.edu	37	1	176525500	176525500	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:176525500G>T	ENST00000367662.3	+	2	1206	c.42G>T	c.(40-42)ttG>ttT	p.L14F	PAPPA2_ENST00000367661.3_Missense_Mutation_p.L14F	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	14					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGGCGATTTTGGCTGGGTGGG	0.507000													15	161					4.96729e-08	6.79073e-08	0.575678	1	0
TUBA3C	7278	broad.mit.edu	37	13	19751625	19751625	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr13:19751625C>A	ENST00000400113.3	-	4	602	c.498G>T	c.(496-498)aaG>aaT	p.K166N		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	166					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CAAATTCTAGCTTGGACTTCT	0.572000													27	123					1.80694e-10	2.69662e-10	0.740014	1	0
HTR3B	9177	broad.mit.edu	37	11	113775669	113775669	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:113775669T>C	ENST00000260191.2	+	1	271	c.14T>C	c.(13-15)gTa>gCa	p.V5A		NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	5					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		TTGTCAAGTGTAATGGCTCCC	0.453000													5	53					0	0	0.217242	0	0
EBF3	253738	broad.mit.edu	37	10	131639172	131639172	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:131639172G>T	ENST00000368648.3	-	14	1542	c.1470C>A	c.(1468-1470)gcC>gcA	p.A490A	EBF3_ENST00000355311.5_Silent_p.A499A	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	499	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CCCCTAGACTGGCCATGGCGC	0.557000													37	147					1.90571e-15	3.28339e-15	0.796494	1	0
PPFIA2	8499	broad.mit.edu	37	12	82070580	82070580	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:82070580G>T	ENST00000550584.2	-	3	588	c.293C>A	c.(292-294)gCt>gAt	p.A98D	PPFIA2_ENST00000549396.1_Missense_Mutation_p.A98D|PPFIA2_ENST00000333447.7_Intron|PPFIA2_ENST00000548586.1_Missense_Mutation_p.A98D|PPFIA2_ENST00000552948.1_Missense_Mutation_p.A98D|PPFIA2_ENST00000549325.1_Intron	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	15										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CGGTGGATCAGCCCCCTTAGA	0.403000													4	35					0.217242	0.220139	0.217242	1	0
AEBP1	165	broad.mit.edu	37	7	44150655	44150655	+	Splice_Site	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:44150655C>A	ENST00000223357.3	+	13	1934	c.1630_splice	c.e13+1	p.A543_splice	AEBP1_ENST00000450684.2_Silent_p.A86A	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	543	Interaction with MAPK1 and MAPK3 (By similarity).|Required for DNA-binding and interaction with NFKBIA (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GCTCTGTGGCCCGTGAGTGTG	0.662000													5	84					0.000274275	0.000312327	0.307466	1	0
DOCK5	80005	broad.mit.edu	37	8	25159840	25159840	+	Splice_Site	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:25159840G>T	ENST00000276440.7	+	10	890		c.e10-1		DOCK5_ENST00000481100.1_Splice_Site	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5							cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGCCCCTTTAGGACCTTAGCA	0.547000													8	47					2.17888e-05	2.62694e-05	0.335167	1	0
CRY2	1408	broad.mit.edu	37	11	45892021	45892021	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:45892021G>T	ENST00000443527.2	+	9	1572	c.1550G>T	c.(1549-1551)aGc>aTc	p.S517I	CRY2_ENST00000417225.2_Missense_Mutation_p.S435I	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	496					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						GCCGAGACCAGCCGGCTTAAC	0.532000													19	40					2.89027e-11	4.45927e-11	0.624587	1	0
IGSF9B	22997	broad.mit.edu	37	11	133801381	133801381	+	Silent	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:133801381T>A	ENST00000321016.8	-	10	1565	c.1335A>T	c.(1333-1335)gcA>gcT	p.A445A	IGSF9B_ENST00000533871.2_Silent_p.A445A			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	445	Ig-like 5.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AGGGGTCCCCTGCGGCAGCAC	0.662000													21	44					0	0	0.706142	0	0
HCN1	348980	broad.mit.edu	37	5	45396633	45396633	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:45396633G>T	ENST00000303230.4	-	4	1248	c.1191C>A	c.(1189-1191)atC>atA	p.I397I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	397						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CCAGAGACTGGATTAAAGCGG	0.473000													6	69					0.000157383	0.000181637	0.278610	1	0
SLC6A11	6538	broad.mit.edu	37	3	10970958	10970958	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:10970958G>A	ENST00000254488.2	+	10	1370	c.1304G>A	c.(1303-1305)cGg>cAg	p.R435Q		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	435					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		AGGGGTTACCGGCGGGAGCTG	0.552000													50	175					0	0	0.870114	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125547511	125547511	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:125547511G>T	ENST00000431078.1	+	18	3146	c.2782G>T	c.(2782-2784)Gga>Tga	p.G928*		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	928	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGGCTTCCTAGGATGCATTCG	0.463000													18	66					4.54149e-19	8.39561e-19	0.624587	1	0
NPAS4	266743	broad.mit.edu	37	11	66192326	66192326	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:66192326C>T	ENST00000311034.2	+	7	2141	c.1965C>T	c.(1963-1965)ggC>ggT	p.G655G		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	655					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						CTGAGGCTGGCACTGGCGGAC	0.587000													9	314					0	0	0.335167	0	0
FBXW7	55294	broad.mit.edu	37	4	153332934	153332934	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:153332934C>A	ENST00000281708.4	-	2	1251	c.22G>T	c.(22-24)Gtg>Ttg	p.V8L	FBXW7_ENST00000603841.1_Missense_Mutation_p.V8L|FBXW7_ENST00000604872.1_Missense_Mutation_p.V8L|FBXW7_ENST00000603548.1_Missense_Mutation_p.V8L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	8					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TTGCTGCCCACAGAGAGCAGT	0.483000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								3	15					0.115264	0.118498	0.115264	1	0
KIF21B	23046	broad.mit.edu	37	1	200978015	200978015	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:200978015T>A	ENST00000332129.2	-	3	645	c.329A>T	c.(328-330)cAg>cTg	p.Q110L	KIF21B_ENST00000360529.5_Missense_Mutation_p.Q110L|KIF21B_ENST00000461742.2_Missense_Mutation_p.Q110L|KIF21B_ENST00000422435.2_Missense_Mutation_p.Q110L	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	110	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GATGATGCCCTGCTCCTCCTC	0.627000													44	186					0	0	0.870114	0	0
GABRG3	2567	broad.mit.edu	37	15	27777906	27777906	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:27777906C>A	ENST00000333743.6	+	10	1537	c.1283C>A	c.(1282-1284)tCc>tAc	p.S428Y	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	428					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		AAATCAGGATCCTGGAGGAAA	0.478000													6	26					3.59834e-05	4.28791e-05	0.217242	1	0
PDPR	55066	broad.mit.edu	37	16	70187392	70187392	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:70187392G>A	ENST00000288050.4	+	18	3108	c.2151G>A	c.(2149-2151)aaG>aaA	p.K717K	PDPR_ENST00000542659.1_Silent_p.K62K|PDPR_ENST00000398122.3_Silent_p.K617K|PDPR_ENST00000567046.1_Silent_p.K75K|PDPR_ENST00000562100.1_Intron|PDPR_ENST00000568530.1_Silent_p.K717K	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	717					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		GAATTGAGAAGTTTTTTGCCT	0.473000													3	34					0	0	0.115264	0	0
KIF1A	547	broad.mit.edu	37	2	241724411	241724411	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:241724411C>A	ENST00000498729.2	-	7	961	c.715G>T	c.(715-717)Gag>Tag	p.E239*	KIF1A_ENST00000320389.7_Nonsense_Mutation_p.E239*	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	239	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTCACCTTCTCCGTGGTGATA	0.612000													39	164					1.62957e-23	3.16655e-23	0.840704	1	0
ZNF302	55900	broad.mit.edu	37	19	35174079	35174079	+	Silent	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:35174079A>G	ENST00000505365.2	+	4	486	c.150A>G	c.(148-150)ccA>ccG	p.P50P	ZNF302_ENST00000457781.2_Silent_p.P50P|ZNF302_ENST00000446502.2_Silent_p.P94P|ZNF302_ENST00000509528.1_Intron|ZNF302_ENST00000507959.1_Silent_p.P51P|ZNF302_ENST00000505242.1_Silent_p.P50P|ZNF302_ENST00000423823.2_Silent_p.P50P			Q9NR11	ZN302_HUMAN	zinc finger protein 302	50	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TAACTAAGCCATATGTGATCA	0.413000													16	82					0	0	0.539581	0	0
PAPSS2	9060	broad.mit.edu	37	10	89469050	89469050	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:89469050G>T	ENST00000361175.4	+	2	494	c.125G>T	c.(124-126)gGa>gTa	p.G42V	PAPSS2_ENST00000427144.2_Missense_Mutation_p.G46V|PAPSS2_ENST00000456849.1_Missense_Mutation_p.G42V|PAPSS2_ENST00000482258.1_3'UTR	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	42					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		GGGTTCCGAGGATGTACCGTG	0.413000													6	89					3.59834e-05	4.28791e-05	0.217242	1	0
BDP1	55814	broad.mit.edu	37	5	70805990	70805990	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:70805990A>T	ENST00000358731.4	+	17	3334	c.3071A>T	c.(3070-3072)aAg>aTg	p.K1024M	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1024	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CCAAGGGAGAAGACACCAGAG	0.453000													17	51					0	0	0.557998	0	0
DLGAP4	22839	broad.mit.edu	37	20	35125141	35125141	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:35125141C>T	ENST00000373913.3	+	8	2162	c.1682C>T	c.(1681-1683)cCg>cTg	p.P561L	DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000339266.5_Missense_Mutation_p.P561L|DLGAP4_ENST00000340491.4_Missense_Mutation_p.P22L|DLGAP4_ENST00000401952.2_Missense_Mutation_p.P561L|DLGAP4_ENST00000373907.2_Missense_Mutation_p.P561L			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	561					cell-cell signaling	membrane	protein binding	p.P561L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AAGAAGACCCCGCCACCGGTC	0.587000													23	74					0	0	0.667858	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477105	110477105	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:110477105G>A	ENST00000378402.5	+	49	8148	c.8044G>A	c.(8044-8046)Gga>Aga	p.G2682R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2682					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTATGAGGCTGGAATTGAGAC	0.438000										HNSCC(38;0.096)			15	42					0	0	0.500413	0	0
SEMA6A	57556	broad.mit.edu	37	5	115782558	115782558	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:115782558G>T	ENST00000343348.6	-	19	3631	c.2844C>A	c.(2842-2844)tcC>tcA	p.S948S	SEMA6A_ENST00000282394.6_Silent_p.S425S|SEMA6A_ENST00000510263.1_Silent_p.S948S|SEMA6A_ENST00000503865.1_Silent_p.S327S|SEMA6A_ENST00000513137.1_Silent_p.S375S|SEMA6A_ENST00000257414.8_Silent_p.S965S	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	948					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TCTGGTTTCTGGAGAGGTGAG	0.592000													6	20					0.000157383	0.000181637	0.278610	1	0
OR8A1	390275	broad.mit.edu	37	11	124440747	124440747	+	Silent	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:124440747T>A	ENST00000284287.3	+	1	855	c.783T>A	c.(781-783)ctT>ctA	p.L261L		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GCTCCCACCTTGCAGCCGTGG	0.493000													12	71					0	0	0.457914	0	0
AKR1B1	231	broad.mit.edu	37	7	134133802	134133802	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:134133802C>G	ENST00000285930.4	-	5	578	c.499G>C	c.(499-501)Gtg>Ctg	p.V167L		NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	167					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	ATCATCTCCACCTGGAGATGG	0.473000													38	363					0	0	0.840704	0	0
STAB1	23166	broad.mit.edu	37	3	52553345	52553345	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:52553345C>A	ENST00000321725.6	+	49	5176	c.5100C>A	c.(5098-5100)atC>atA	p.I1700I		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1700	FAS1 5.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGAACGGCATCCTGCACTTCA	0.642000													45	193					6.14515e-18	1.11493e-17	0.870114	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5191887	5191887	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:5191887C>T	ENST00000274181.7	+	8	1435	c.1297C>T	c.(1297-1299)Cat>Tat	p.H433Y	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.H433Y	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	433	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CACCATTGCCCATGAGTCTGG	0.448000													23	177					0	0	0.706142	0	0
TRIML1	339976	broad.mit.edu	37	4	189068504	189068504	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:189068504G>A	ENST00000332517.3	+	6	1525	c.1385G>A	c.(1384-1386)tGc>tAc	p.C462Y	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	462	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CTCACCATCTGCTCACTGAAC	0.562000													16	99					0	0	0.539581	0	0
NPSR1	387129	broad.mit.edu	37	7	34698051	34698051	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:34698051C>T	ENST00000360581.1	+	1	155	c.27C>T	c.(25-27)agC>agT	p.S9S	NPSR1_ENST00000381553.3_Silent_p.S9S|NPSR1_ENST00000531252.1_Silent_p.S9S|NPSR1-AS1_ENST00000419766.1_RNA|AC005493.1_ENST00000399077.1_Intron|NPSR1_ENST00000465305.1_Silent_p.S9S|NPSR1_ENST00000381539.3_Silent_p.S9S|NPSR1_ENST00000381542.1_Silent_p.S9S|NPSR1_ENST00000359791.1_Silent_p.S9S	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	9						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CAGAGGGCAGCTTCGATTCCA	0.572000													18	108					0	0	0.592651	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209185039	209185039	+	Silent	SNP	A	A	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:209185039A>C	ENST00000264380.4	+	17	2304	c.2146A>C	c.(2146-2148)Aga>Cga	p.R716R		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	716					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GTATCTCTACAGAGAAGAAAC	0.318000													19	111					0	0	0.750413	0	0
LTBP3	4054	broad.mit.edu	37	11	65320897	65320897	+	Splice_Site	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:65320897C>G	ENST00000301873.5	-	4	1237	c.970_splice	c.e4+1	p.Q323_splice	LTBP3_ENST00000322147.4_Splice_Site_p.Q323_splice|LTBP3_ENST00000536982.1_Intron	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	323	TB 1.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						AGCACTCACACTGCAGCTGGG	0.662000													3	72					0	0	0.184627	0	0
CNOT4	4850	broad.mit.edu	37	7	135095329	135095329	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:135095329G>A	ENST00000428680.2	-	7	1036	c.757C>T	c.(757-759)Cag>Tag	p.Q253*	CNOT4_ENST00000414802.1_Nonsense_Mutation_p.Q253*|CNOT4_ENST00000315544.5_Nonsense_Mutation_p.Q253*|CNOT4_ENST00000451834.1_Nonsense_Mutation_p.Q253*|CNOT4_ENST00000541284.1_Nonsense_Mutation_p.Q253*|CNOT4_ENST00000356162.4_Nonsense_Mutation_p.Q253*|CNOT4_ENST00000361528.4_Nonsense_Mutation_p.Q253*|CNOT4_ENST00000423368.2_Nonsense_Mutation_p.Q253*	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	253					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GTAGATAGCTGAAGAAAATTG	0.343000													10	93					0	0	0.335167	0	0
FAM47C	442444	broad.mit.edu	37	X	37027960	37027960	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:37027960A>C	ENST00000358047.3	+	1	1529	c.1477A>C	c.(1477-1479)Act>Cct	p.T493P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	493										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GCCTCCCGACACTGGAGTGTC	0.627000													34	64					0	0	0.819951	0	0
CTAGE5	4253	broad.mit.edu	37	14	39819422	39819422	+	Nonsense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:39819422C>G	ENST00000553728.1	+	28	4187	c.3974C>G	c.(3973-3975)tCa>tGa	p.S1325*	CTAGE5_ENST00000341749.3_Nonsense_Mutation_p.S778*|CTAGE5_ENST00000396158.2_Nonsense_Mutation_p.S795*|CTAGE5_ENST00000348007.3_Nonsense_Mutation_p.S747*|RP11-407N17.3_ENST00000603904.1_Nonsense_Mutation_p.S761*|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000557038.1_Nonsense_Mutation_p.S710*|CTAGE5_ENST00000396165.4_Nonsense_Mutation_p.S761*|CTAGE5_ENST00000556148.1_Nonsense_Mutation_p.S715*|CTAGE5_ENST00000341502.5_Intron|CTAGE5_ENST00000280083.3_Nonsense_Mutation_p.S790*|CTAGE5_ENST00000553352.1_Nonsense_Mutation_p.S761*																							ATTCCACCTTCAAATGAGCCT	0.438000													32	146					0	0	0.853193	0	0
NCAPH	23397	broad.mit.edu	37	2	97024810	97024810	+	Silent	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:97024810A>T	ENST00000455200.1	+	10	1498	c.1203A>T	c.(1201-1203)ggA>ggT	p.G401G	NCAPH_ENST00000427946.1_Silent_p.G276G|NCAPH_ENST00000240423.4_Silent_p.G412G			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	412					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				TTGGGGATGGAGACATCAGGA	0.433000													12	69					0	0	0.539581	0	0
PCDHB16	57717	broad.mit.edu	37	5	140564264	140564264	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:140564264G>T	ENST00000361016.2	+	1	3285	c.2130G>T	c.(2128-2130)gcG>gcT	p.A710A		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		710				A -> V (in Ref. 3; BAB13447).	calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTCGTGGCGGTGCGGCTGT	0.687000													32	109					5.2432e-18	9.53817e-18	0.870114	1	0
NAV2	89797	broad.mit.edu	37	11	19954916	19954916	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:19954916G>T	ENST00000396085.1	+	7	1487	c.1126G>T	c.(1126-1128)Gtc>Ttc	p.V376F	NAV2_ENST00000360655.4_Missense_Mutation_p.V312F|NAV2_ENST00000349880.4_Missense_Mutation_p.V376F|NAV2_ENST00000540292.1_Missense_Mutation_p.V330F|NAV2_ENST00000396087.3_Missense_Mutation_p.V399F|NAV2_ENST00000527559.2_Missense_Mutation_p.V328F	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	399						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CATGCTCTCGGTCAAGCCTCC	0.607000													33	208					2.52449e-32	5.18543e-32	0.827153	1	0
TRIM72	493829	broad.mit.edu	37	16	31230653	31230653	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:31230653G>A	ENST00000322122.3	+	4	814	c.530G>A	c.(529-531)gGc>gAc	p.G177D		NM_001008274.3	NP_001008275.2	Q6ZMU5	TRI72_HUMAN	tripartite motif containing 72	177					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						GAGCAGCTGGGCAAGATGCGG	0.667000													24	114					0	0	0.750413	0	0
MAP3K3	4215	broad.mit.edu	37	17	61769725	61769725	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:61769725G>T	ENST00000361357.3	+	16	2009	c.1691G>T	c.(1690-1692)tGg>tTg	p.W564L	MAP3K3_ENST00000577395.1_Missense_Mutation_p.W529L|MAP3K3_ENST00000584573.1_Missense_Mutation_p.W560L|MAP3K3_ENST00000361733.3_Missense_Mutation_p.W533L|MAP3K3_ENST00000579585.1_Missense_Mutation_p.W564L	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	533	Protein kinase.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						ACACCCTACTGGATGAGCCCT	0.597000													9	49					0.0692343	0.0717157	0.361761	1	0
LRRC25	126364	broad.mit.edu	37	19	18507022	18507022	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:18507022G>C	ENST00000339007.3	-	1	1405	c.752C>G	c.(751-753)gCa>gGa	p.A251G	LRRC25_ENST00000595840.1_Missense_Mutation_p.A251G	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	251						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						GTGCTCGGCTGCTGGCTGGCC	0.597000													24	87					0	0	0.750413	0	0
SEC16A	9919	broad.mit.edu	37	9	139371508	139371508	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:139371508C>A	ENST00000313050.7	-	1	633	c.560G>T	c.(559-561)aGc>aTc	p.S187I	SEC16A_ENST00000371706.3_Missense_Mutation_p.S9I|SEC16A_ENST00000290037.6_Missense_Mutation_p.S9I|SEC16A_ENST00000431893.2_Missense_Mutation_p.S9I	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	9					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GTTTTGCCTGCTCAGGGGTCG	0.607000													31	141					3.33393e-15	5.70103e-15	0.804634	1	0
KIN	22944	broad.mit.edu	37	10	7825115	7825115	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:7825115C>G	ENST00000379562.3	-	2	185	c.138G>C	c.(136-138)atG>atC	p.M46I	KIN_ENST00000543003.1_Intron|KIN_ENST00000535925.1_Missense_Mutation_p.M46I			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)	46					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						GAGATTCGGACATACAATGAC	0.313000													3	40					0	0	0.184627	0	0
DENND2A	27147	broad.mit.edu	37	7	140223139	140223139	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:140223139T>A	ENST00000275884.6	-	16	3050	c.2633A>T	c.(2632-2634)gAg>gTg	p.E878V	DENND2A_ENST00000537639.1_Missense_Mutation_p.E878V|DENND2A_ENST00000496613.1_Missense_Mutation_p.E878V			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	878										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TTCGTCCTGCTCACAAGCCAG	0.592000													39	140					0	0	0.870114	0	0
HELB	92797	broad.mit.edu	37	12	66709039	66709039	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:66709039C>A	ENST00000247815.4	+	6	1935	c.1876C>A	c.(1876-1878)Ccc>Acc	p.P626T		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	626					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TAGACAGTTACCCAGTATTGA	0.328000													13	51					0.0135373	0.014393	0.411799	1	0
AXDND1	126859	broad.mit.edu	37	1	179363111	179363111	+	Missense_Mutation	SNP	C	C	G	rs146917473	by1000genomes	TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:179363111C>G	ENST00000367618.3	+	10	1324	c.937C>G	c.(937-939)Cga>Gga	p.R313G	AXDND1_ENST00000457238.2_Missense_Mutation_p.R313G|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	313										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						GGTAACTCAGCGAGTGATGGA	0.383000													23	186					0	0	0.681144	0	0
MB21D2	151963	broad.mit.edu	37	3	192516607	192516607	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:192516607C>A	ENST00000392452.2	-	2	1364	c.1044G>T	c.(1042-1044)ttG>ttT	p.L348F		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	348										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						CTTCTTGAGCCAAGTAGTTGG	0.522000													17	66					1.96292e-10	2.91878e-10	0.592651	1	0
AHNAK2	113146	broad.mit.edu	37	14	105408447	105408447	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:105408447C>T	ENST00000333244.5	-	7	13460	c.13341G>A	c.(13339-13341)ggG>ggA	p.G4447G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4447						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)			GGGACAGGTCCCCCTCCAGCC	0.587000													10	368					0	0	0.387290	0	0
ABL2	27	broad.mit.edu	37	1	179100556	179100556	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:179100556C>A	ENST00000502732.1	-	3	484	c.281G>T	c.(280-282)aGg>aTg	p.R94M	ABL2_ENST00000367623.4_Missense_Mutation_p.R73M|ABL2_ENST00000408940.3_Missense_Mutation_p.R58M|ABL2_ENST00000512653.1_Missense_Mutation_p.R79M|ABL2_ENST00000392043.3_Missense_Mutation_p.R73M|ABL2_ENST00000504405.1_Missense_Mutation_p.R58M|ABL2_ENST00000344730.3_Missense_Mutation_p.R79M|ABL2_ENST00000507173.1_Missense_Mutation_p.R73M|ABL2_ENST00000511413.1_Missense_Mutation_p.R94M	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	94	CAP.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GGAGCTCCACCTGATAGCCTC	0.473000			T	ETV6	AML								15	58					0.00498961	0.00536618	0.520397	1	0
TMX3	54495	broad.mit.edu	37	18	66351691	66351691	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:66351691C>G	ENST00000299608.2	-	11	1084	c.768G>C	c.(766-768)gaG>gaC	p.E256D		NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	256					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						ATGTATTTTTCTCATCAATAA	0.323000													14	101					0	0	0.575678	0	0
TNF	7124	broad.mit.edu	37	6	31543676	31543676	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:31543676T>C	ENST00000449264.2	+	1	333	c.158T>C	c.(157-159)tTt>tCt	p.F53S		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	53					activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)	CTGCTGCACTTTGGAGTGATC	0.622000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				19	85					0	0	0.608945	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220356202	220356202	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:220356202C>A	ENST00000358951.2	-	20	2186	c.2070G>T	c.(2068-2070)aaG>aaT	p.K690N		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	690					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TGTTCTCTTGCTTATATTTCT	0.348000													8	55					6.5536e-12	1.04491e-11	0.278610	1	0
NOTCH4	4855	broad.mit.edu	37	6	32165250	32165250	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:32165250G>T	ENST00000375023.3	-	27	5016	c.4878C>A	c.(4876-4878)ccC>ccA	p.P1626P	NOTCH4_ENST00000443903.2_Silent_p.P35P	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1626					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TGTGAGCCTGGGGACAGGCCC	0.672000													6	34					0.00116845	0.00129323	0.217242	1	0
PREX2	80243	broad.mit.edu	37	8	68989669	68989669	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:68989669G>T	ENST00000288368.4	+	15	1884	c.1607G>T	c.(1606-1608)gGc>gTc	p.G536V	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	536	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATGATATTTGGCGTTGGACTC	0.443000													11	112					9.16793e-09	1.28765e-08	0.520397	1	0
XPNPEP3	63929	broad.mit.edu	37	22	41305186	41305186	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:41305186G>C	ENST00000357137.4	+	6	1000	c.916G>C	c.(916-918)Ggt>Cgt	p.G306R	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.G283R	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	306					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						TGTGGTGGCTGGTGGTAATCG	0.463000													17	168					0	0	0.608945	0	0
SETBP1	26040	broad.mit.edu	37	18	42530482	42530482	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:42530482C>T	ENST00000282030.5	+	4	1473	c.1177C>T	c.(1177-1179)Cct>Tct	p.P393S		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	393						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGCCAGTAATCCTGAAAATGA	0.463000									Schinzel-Giedion syndrome				6	15					0	0	0.217242	0	0
OR8K5	219453	broad.mit.edu	37	11	55927548	55927548	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:55927548C>T	ENST00000313447.1	-	1	245	c.246G>A	c.(244-246)ctG>ctA	p.L82L		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CAAAATTTGCCAGCACCTTGG	0.383000													11	103					0	0	0.457914	0	0
DDX20	11218	broad.mit.edu	37	1	112305608	112305608	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:112305608A>G	ENST00000475700.1	+	2	2473	c.115A>G	c.(115-117)Atc>Gtc	p.I39V	DDX20_ENST00000369702.4_Missense_Mutation_p.I431V|DDX20_ENST00000536167.1_3'UTR			Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	431					assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAATGTAATATCAACCTTCT	0.353000													14	40					0	0	0.520397	0	0
TNRC6C	57690	broad.mit.edu	37	17	76046032	76046032	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:76046032G>T	ENST00000335749.4	+	3	1458	c.889G>T	c.(889-891)Gct>Tct	p.A297S	TNRC6C_ENST00000544502.1_Missense_Mutation_p.A297S|TNRC6C_ENST00000541771.1_Missense_Mutation_p.A297S|TNRC6C_ENST00000301624.4_Missense_Mutation_p.A297S|TNRC6C_ENST00000588847.1_Missense_Mutation_p.A297S|TNRC6C_ENST00000588061.1_Missense_Mutation_p.A297S	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	297	Gly-rich.|Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGGAGGAAATGCTTGGGATTC	0.517000													9	47					2.74318e-10	4.0672e-10	0.335167	1	0
LHX6	26468	broad.mit.edu	37	9	124988657	124988657	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:124988657G>T	ENST00000394319.4	-	4	563	c.459C>A	c.(457-459)ttC>ttA	p.F153L	LHX6_ENST00000340587.3_Missense_Mutation_p.F153L|LHX6_ENST00000541397.2_Missense_Mutation_p.F142L|LHX6_ENST00000373754.2_Missense_Mutation_p.F124L|LHX6_ENST00000373755.2_Missense_Mutation_p.F124L	NM_014368.4	NP_055183.2	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	124	LIM zinc-binding 2.|Required for interaction with LBD1 (By similarity).				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						CAGCCTACCTGAAGTAGTCCA	0.632000													7	58					0.000157383	0.000181637	0.278610	1	0
UBE3D	90025	broad.mit.edu	37	6	83732261	83732261	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:83732261C>A	ENST00000369747.3	-	7	879	c.757G>T	c.(757-759)Gtg>Ttg	p.V253L		NM_198920.1	NP_944602.1	Q7Z6J8	UB2CB_HUMAN	ubiquitin protein ligase E3D	253	Interaction with UBE2C.					cytoplasm	ligase activity										TGGGCGATCACGCTCTGGACA	0.393000													8	39					1.12685e-05	1.37719e-05	0.307466	1	0
OR2T12	127064	broad.mit.edu	37	1	248458864	248458864	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:248458864G>T	ENST00000317996.1	-	1	16	c.17C>A	c.(16-18)aCt>aAt	p.T6N		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ATCTGGGGTAGTATTTCTCAT	0.438000													24	104					1.26454e-06	1.62076e-06	0.693898	1	0
MYEF2	50804	broad.mit.edu	37	15	48451029	48451029	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:48451029C>T	ENST00000324324.7	-	7	1087	c.808G>A	c.(808-810)Ggc>Agc	p.G270S	MYEF2_ENST00000267836.6_Missense_Mutation_p.G270S|MYEF2_ENST00000557868.1_5'UTR	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	270	RRM 2.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		CTGCTCTTGCCATCTTTGTCT	0.393000													38	124					0	0	0.840704	0	0
ENPP7	339221	broad.mit.edu	37	17	77707447	77707447	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:77707447G>A	ENST00000328313.5	+	2	616	c.395G>A	c.(394-396)aGg>aAg	p.R132K		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	132					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			ACAGCCCAGAGGCAGGTAATG	0.622000													5	1					0	0	0.217242	0	0
GABRA6	2559	broad.mit.edu	37	5	161128550	161128550	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:161128550C>G	ENST00000523217.1	+	9	1345	c.1103C>G	c.(1102-1104)tCt>tGt	p.S368C	GABRA6_ENST00000274545.5_Missense_Mutation_p.S378C	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	378					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACTTCTCTGTCTTTGCCAATA	0.423000										TCGA Ovarian(5;0.080)			5	94					0	0	0.248553	0	0
ARID1B	57492	broad.mit.edu	37	6	157469856	157469856	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:157469856G>T	ENST00000346085.5	+	9	2651	c.2650G>T	c.(2650-2652)Gga>Tga	p.G884*	ARID1B_ENST00000275248.4_Nonsense_Mutation_p.G813*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.G871*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.G871*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	871					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCAGATGCATGGACAAGGGCC	0.577000													31	152					9.65021e-13	1.56416e-12	0.750413	1	0
PISD	23761	broad.mit.edu	37	22	32058140	32058140	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:32058140A>T	ENST00000439502.2	-	1	278	c.55T>A	c.(55-57)Tgg>Agg	p.W19R	PISD_ENST00000336566.4_Missense_Mutation_p.W19R			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	19					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	CTGCTCCGCCACGGCGCGACC	0.647000													13	302					0	0	0.539581	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	45999857	45999857	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr21:45999857C>A	ENST00000400372.1	-	1	624	c.599G>T	c.(598-600)tGc>tTc	p.C200F	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	200	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						AGACTGCTGGCAGCATGAAGT	0.637000													66	406					7.46257e-40	1.55464e-39	0.870114	1	0
KIF16B	55614	broad.mit.edu	37	20	16409633	16409633	+	Translation_Start_Site	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:16409633A>T	ENST00000378003.2	-	0	1596				KIF16B_ENST00000354981.2_Missense_Mutation_p.V480D|KIF16B_ENST00000355755.3_Missense_Mutation_p.V480D|KIF16B_ENST00000408042.1_Missense_Mutation_p.V480D			Q96L93	KI16B_HUMAN	kinesin family member 16B						cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GTCTCTACCAACGTATGTCTG	0.378000													4	96					0	0	0.184627	0	0
GRID2	2895	broad.mit.edu	37	4	94690476	94690476	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:94690476C>A	ENST00000282020.4	+	15	2734	c.2476C>A	c.(2476-2478)Ctg>Atg	p.L826M	GRID2_ENST00000510992.1_Missense_Mutation_p.L731M	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	826					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGGAGGCGCCCTGGACATAAA	0.517000													8	62					3.86212e-05	4.5625e-05	0.361761	1	0
SEL1L2	80343	broad.mit.edu	37	20	13847493	13847493	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:13847493C>A	ENST00000284951.5	-	15	1333	c.1259G>T	c.(1258-1260)gGc>gTc	p.G420V	SEL1L2_ENST00000378072.5_Missense_Mutation_p.G420V|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	420						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TATTCCAGAGCCAGCTGAAAA	0.343000													9	60					4.68919e-08	6.42767e-08	0.361761	1	0
ALDH3A1	218	broad.mit.edu	37	17	19644497	19644497	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:19644497T>A	ENST00000457500.2	-	5	1045	c.716A>T	c.(715-717)aAc>aTc	p.N239I	ALDH3A1_ENST00000444455.1_Missense_Mutation_p.N239I|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.N239I|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.N239I|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.N166I	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	239					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CTGGCCACTGTTCATGAATTT	0.522000													12	48					0	0	0.500413	0	0
MYH7	4625	broad.mit.edu	37	14	23899789	23899789	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:23899789C>G	ENST00000355349.3	-	11	1141	c.979G>C	c.(979-981)Gag>Cag	p.E327Q		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	327	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ATGAGCTCCTCAGCGTCATCA	0.547000													4	30					0	0	0.184627	0	0
BAI3	577	broad.mit.edu	37	6	70037783	70037783	+	Splice_Site	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:70037783T>A	ENST00000370598.1	+	22	3856		c.e22+2		BAI3_ENST00000238918.8_Splice_Site	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3						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)				TGATCACTAGTAAGTCCATCC	0.393000													7	71					0	0	0.307466	0	0
KRT75	9119	broad.mit.edu	37	12	52825412	52825412	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:52825412G>T	ENST00000252245.5	-	4	1005	c.785C>A	c.(784-786)gCt>gAt	p.A262D		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	262	Coil 1B.|Rod.					keratin filament	structural molecule activity	p.A262V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CATATAGGCAGCATCTACGTC	0.502000													29	89					6.04917e-29	1.22779e-28	0.827153	1	0
MAEL	84944	broad.mit.edu	37	1	166959064	166959064	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:166959064C>A	ENST00000367872.4	+	2	467	c.223C>A	c.(223-225)Cag>Aag	p.Q75K	MAEL_ENST00000367870.2_Intron	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	75					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CTCAGAGAAGCAGGTAAAGTT	0.517000													3	31					0.150653	0.154185	0.150653	1	0
ZGPAT	84619	broad.mit.edu	37	20	62364705	62364705	+	Splice_Site	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:62364705G>T	ENST00000328969.5	+	3	845		c.e3+1		ZGPAT_ENST00000490623.1_Splice_Site|ZGPAT_ENST00000357119.4_Splice_Site|ZGPAT_ENST00000355969.6_Splice_Site|ZGPAT_ENST00000369967.3_Splice_Site|ZGPAT_ENST00000448100.1_Splice_Site	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain						negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CGCATCACCGGTGAGGCTGGC	0.677000													4	16					0.014758	0.0156261	0.184627	1	0
LYVE1	10894	broad.mit.edu	37	11	10580675	10580675	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:10580675G>T	ENST00000256178.3	-	6	1110	c.952C>A	c.(952-954)Ctg>Atg	p.L318M	MRVI1-AS1_ENST00000529829.1_RNA|LYVE1_ENST00000529598.1_Missense_Mutation_p.L214M|MRVI1-AS1_ENST00000529979.1_RNA	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor 1	318					anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		TCAGCTTCCAGGCATCGCACG	0.478000													29	166					9.8876e-21	1.86141e-20	0.804634	1	0
DERL1	79139	broad.mit.edu	37	8	124054342	124054342	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:124054342C>A	ENST00000259512.4	-	1	321	c.21G>T	c.(19-21)tgG>tgT	p.W7C	DERL1_ENST00000405944.3_Missense_Mutation_p.W7C|DERL1_ENST00000419562.2_Missense_Mutation_p.W7C	NM_001134671.1|NM_024295.4	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	7					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TGCTCCTGAACCAGTCTCCGA	0.672000													8	60					7.48243e-07	9.66873e-07	0.335167	1	0
PRAME	23532	broad.mit.edu	37	22	22892170	22892170	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:22892170C>A	ENST00000543184.1	-	4	1793	c.931G>T	c.(931-933)Ggc>Tgc	p.G311C	PRAME_ENST00000424204.2_Missense_Mutation_p.G295C|PRAME_ENST00000402697.1_Missense_Mutation_p.G311C|PRAME_ENST00000405655.3_Missense_Mutation_p.G311C|PRAME_ENST00000539862.1_Missense_Mutation_p.G295C|PRAME_ENST00000398743.2_Missense_Mutation_p.G311C|PRAME_ENST00000398741.1_Missense_Mutation_p.G311C	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	311					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TCCAGGCGGCCTCTAAGGAAA	0.488000													7	22					2.17888e-05	2.62694e-05	0.335167	1	0
ANK1	286	broad.mit.edu	37	8	41530217	41530217	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:41530217G>C	ENST00000396942.1	-	38	4834	c.4751C>G	c.(4750-4752)tCt>tGt	p.S1584C	ANK1_ENST00000289734.7_Missense_Mutation_p.S1584C|ANK1_ENST00000396945.1_Missense_Mutation_p.S1584C|ANK1_ENST00000265709.8_Missense_Mutation_p.S1625C|ANK1_ENST00000379758.2_Missense_Mutation_p.S1584C|ANK1_ENST00000347528.4_Missense_Mutation_p.S1584C|ANK1_ENST00000352337.4_Missense_Mutation_p.S1584C			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1584	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACACTCCAGAGAGGAGTCCTC	0.622000													19	112					0	0	0.557998	0	0
SPARCL1	8404	broad.mit.edu	37	4	88415459	88415459	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:88415459C>T	ENST00000418378.1	-	5	1064	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	SPARCL1_ENST00000503414.1_Missense_Mutation_p.E40K|SPARCL1_ENST00000282470.6_Missense_Mutation_p.E165K	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	165					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CTAGGTTGTTCTTGGTTTTCC	0.393000													21	116					0	0	0.639603	0	0
ZNF831	128611	broad.mit.edu	37	20	57769482	57769482	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:57769482C>A	ENST00000371030.2	+	1	3408	c.3408C>A	c.(3406-3408)gcC>gcA	p.A1136A		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1136						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCCTCACTGCCCTCACTCGGC	0.687000													10	73					3.07112e-06	3.8403e-06	0.387290	1	0
CNTNAP5	129684	broad.mit.edu	37	2	124999890	124999890	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:124999890G>A	ENST00000431078.1	+	3	665	c.301G>A	c.(301-303)Gac>Aac	p.D101N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	101	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CGGAAGCTCTGACTGGGTGAC	0.507000													6	19					0	0	0.278610	0	0
TENM4	26011	broad.mit.edu	37	11	78380951	78380951	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:78380951C>T	ENST00000278550.7	-	32	6901	c.6439G>A	c.(6439-6441)Gca>Aca	p.A2147T		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CTGCCATATGCATCAAAATGC	0.468000													4	50					0	0	0.184627	0	0
TREML3P	340206	broad.mit.edu	37	6	41184896	41184896	+	RNA	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:41184896C>A	ENST00000564680.1	-	0	314																											TGAGGGTCCACGTAGGAGACG	0.562000													31	95					1.36161e-19	2.53083e-19	0.796494	1	0
EVX2	344191	broad.mit.edu	37	2	176947171	176947171	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:176947171G>T	ENST00000308618.4	-	2	570	c.434C>A	c.(433-435)gCa>gAa	p.A145E		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	145						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GCCGCTCTCTGCGTACCCTGG	0.711000													8	26					1.45105e-14	2.44463e-14	0.539581	1	0
ADARB2	105	broad.mit.edu	37	10	1405928	1405928	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:1405928C>A	ENST00000381312.1	-	3	697	c.372G>T	c.(370-372)gtG>gtT	p.V124V		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	124					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TCTTGGGCGCCACCGACCACG	0.701000													17	67					5.26018e-13	8.57338e-13	0.608945	1	0
VIT	5212	broad.mit.edu	37	2	36986202	36986202	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:36986202G>T	ENST00000457137.2	+	6	728	c.500G>T	c.(499-501)cGt>cTt	p.R167L	VIT_ENST00000404084.1_Intron|VIT_ENST00000379242.3_Intron|VIT_ENST00000497382.1_Intron|VIT_ENST00000379241.3_Intron|VIT_ENST00000389975.3_Intron|VIT_ENST00000401530.1_Intron	NM_001177972.1	NP_001171443.1	Q6UXI7	VITRN_HUMAN	vitrin	167						proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				AAGTGCTCACGTGTGATTGAA	0.458000													16	72					2.62699e-14	4.3933e-14	0.479597	1	0
ITGA8	8516	broad.mit.edu	37	10	15713606	15713606	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:15713606C>A	ENST00000378076.3	-	8	1196	c.843G>T	c.(841-843)caG>caT	p.Q281H		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	281					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCTCACCTTGCTGAGAATCCC	0.338000													6	50					1.06961e-07	1.4497e-07	0.278610	1	0
SLC12A5	57468	broad.mit.edu	37	20	44678415	44678415	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:44678415C>T	ENST00000454036.1	+	17	2312	c.2236C>T	c.(2236-2238)Cag>Tag	p.Q746*	SLC12A5_ENST00000243964.3_Nonsense_Mutation_p.Q723*	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	746					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCCACAGGCCCAGCGGGCAGA	0.567000													3	19					0	0	0.150653	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153303333	153303333	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:153303333C>A	ENST00000368739.3	-	9	1378	c.1020G>T	c.(1018-1020)ctG>ctT	p.L340L	PGLYRP4_ENST00000359650.5_Silent_p.L344L			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	344					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCCCACCAGCAGGTAGTTGG	0.547000													9	145					0.00829132	0.00887059	0.361761	1	0
GPX6	257202	broad.mit.edu	37	6	28472224	28472224	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:28472224A>C	ENST00000361902.1	-	5	560	c.511T>G	c.(511-513)Tgg>Ggg	p.W171G	GPX6_ENST00000474923.1_Silent_p.S137S	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	171					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	ATGGGCTCCCAGAAGAGTTGG	0.478000													7	45					0	0	0.335167	0	0
USP15	9958	broad.mit.edu	37	12	62777985	62777985	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:62777985G>T	ENST00000280377.5	+	11	1433	c.1375G>T	c.(1375-1377)Gat>Tat	p.D459Y	USP15_ENST00000393654.3_Missense_Mutation_p.D434Y|USP15_ENST00000353364.3_Missense_Mutation_p.D430Y	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	459					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AGTAACATTTGATCCTTTTTG	0.348000													4	31					0.184627	0.187367	0.184627	1	0
VTI1A	143187	broad.mit.edu	37	10	114575084	114575084	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:114575084G>T	ENST00000393077.2	+	8	712	c.596G>T	c.(595-597)gGg>gTg	p.G199V		NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	0					intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		GTCATCCTAGGGATCATCGTG	0.478000			T	TCF7L2	colorectal								19	81					7.92952e-12	1.25454e-11	0.667858	1	0
ABCA10	10349	broad.mit.edu	37	17	67186559	67186559	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:67186559C>A	ENST00000269081.4	-	19	2980	c.2071G>T	c.(2071-2073)Gtg>Ttg	p.V691L	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	691					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AGAGATGTCACTGAAACAGCA	0.323000													12	60					3.41278e-10	5.04541e-10	0.520397	1	0
SYNE1	23345	broad.mit.edu	37	6	152651629	152651629	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:152651629C>T	ENST00000367255.5	-	78	14792	c.14191G>A	c.(14191-14193)Gat>Aat	p.D4731N	SYNE1_ENST00000341594.5_Missense_Mutation_p.D4478N|SYNE1_ENST00000265368.4_Missense_Mutation_p.D4731N|SYNE1_ENST00000423061.1_Missense_Mutation_p.D4660N|SYNE1_ENST00000448038.1_Missense_Mutation_p.D4660N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4731					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCAGTTCATCCACCGCCTCC	0.557000										HNSCC(10;0.0054)			12	73					0	0	0.387290	0	0
SMARCD1	6602	broad.mit.edu	37	12	50490689	50490689	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:50490689G>A	ENST00000394963.4	+	11	1724	c.1326G>A	c.(1324-1326)ctG>ctA	p.L442L	SMARCD1_ENST00000548573.1_Silent_p.L240L|SMARCD1_ENST00000381513.4_Intron	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	442	Interaction with SMARCC1 and SMARCC2.|Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						AGTTCATGCTGAGCTTTGCCA	0.468000													3	49					0	0	0.150653	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454368	84454368	+	Silent	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr13:84454368G>C	ENST00000377084.2	-	1	2160	c.1275C>G	c.(1273-1275)ctC>ctG	p.L425L		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	425						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		ATAGCCACCTGAGGTCCAAAA	0.468000													37	177					0	0	0.840704	0	0
SDK2	54549	broad.mit.edu	37	17	71390438	71390438	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:71390438C>A	ENST00000392650.3	-	26	3618	c.3618G>T	c.(3616-3618)gtG>gtT	p.V1206V	SDK2_ENST00000388726.3_Silent_p.V1206V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1206	Fibronectin type-III 7.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CCAGTGCAGACACATTGGTGG	0.627000													5	25					0.0215528	0.0226801	0.217242	1	0
PVRIG	79037	broad.mit.edu	37	7	99818587	99818587	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:99818587C>A	ENST00000317271.2	+	6	1057	c.694C>A	c.(694-696)Cct>Act	p.P232T	GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing	232						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTTCACGTCCCTTATGCCAC	0.677000													27	155					3.62531e-18	6.60669e-18	0.796494	1	0
OR2T27	403239	broad.mit.edu	37	1	248814054	248814054	+	Silent	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:248814054G>C	ENST00000344889.3	-	1	131	c.132C>G	c.(130-132)gtC>gtG	p.V44V		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAATGATCTTGACCACGTTGC	0.517000													6	50					0	0	0.387290	0	0
CCNB3	85417	broad.mit.edu	37	X	50053080	50053080	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:50053080G>T	ENST00000376042.1	+	6	2209	c.1911G>T	c.(1909-1911)caG>caT	p.Q637H	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.Q637H			Q8WWL7	CCNB3_HUMAN	cyclin B3	637					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TCCTCTCCCAGGAACCATCTG	0.458000													8	10					2.74318e-10	4.0672e-10	0.335167	1	0
KALRN	8997	broad.mit.edu	37	3	124048718	124048718	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:124048718G>T	ENST00000360013.3	+	8	1416	c.1289G>T	c.(1288-1290)gGa>gTa	p.G430V	KALRN_ENST00000460856.1_Missense_Mutation_p.G430V|KALRN_ENST00000240874.3_Missense_Mutation_p.G430V	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	430					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTCCTGTCGGGAGTGGATGCC	0.567000													20	98					4.22769e-11	6.50805e-11	0.706142	1	0
CDH9	1007	broad.mit.edu	37	5	26885950	26885950	+	Missense_Mutation	SNP	C	C	G	rs150128137		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:26885950C>G	ENST00000231021.4	-	11	1827	c.1655G>C	c.(1654-1656)cGg>cCg	p.R552P		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	552	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R552Q(1)		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						GCCATCTTTCCGAGTCATGAT	0.343000													12	124					0	0	0.520397	0	0
MUC5B	727897	broad.mit.edu	37	11	1268644	1268644	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:1268644C>A	ENST00000447027.1	+	31	10601	c.10543C>A	c.(10543-10545)Cct>Act	p.P3515T	MUC5B_ENST00000529681.1_Missense_Mutation_p.P3512T|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3512	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTGTCCAGCCCTCACCCTAG	0.662000													52	137					2.18419e-29	4.44199e-29	0.870114	1	0
ARHGEF10L	55160	broad.mit.edu	37	1	17950906	17950906	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:17950906G>T	ENST00000361221.3	+	13	1384	c.1225G>T	c.(1225-1227)Gtg>Ttg	p.V409L	ARHGEF10L_ENST00000167825.4_Intron|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.V409L|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.V370L|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.V167L|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.V187L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.V370L	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	409	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GGTGCTAGATGTGTACAGTGA	0.557000													30	185					1.08052e-11	1.70033e-11	0.796494	1	0
TXLNA	200081	broad.mit.edu	37	1	32658829	32658829	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:32658829G>T	ENST00000373609.1	+	8	1460	c.1179G>T	c.(1177-1179)aaG>aaT	p.K393N	TXLNA_ENST00000373610.3_Missense_Mutation_p.K393N			P40222	TXLNA_HUMAN	taxilin alpha	393					cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				ACACAGAGAAGTTTGAGGAGT	0.517000													27	85					1.56738e-10	2.35796e-10	0.796494	1	0
CSMD1	64478	broad.mit.edu	37	8	4494938	4494938	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:4494938G>T	ENST00000520002.1	-	2	783	c.228C>A	c.(226-228)acC>acA	p.T76T	CSMD1_ENST00000400186.3_Silent_p.T76T|CSMD1_ENST00000602723.1_Silent_p.T76T|CSMD1_ENST00000602557.1_Silent_p.T76T|CSMD1_ENST00000542608.1_Silent_p.T76T|CSMD1_ENST00000539096.1_Silent_p.T76T|CSMD1_ENST00000537824.1_Silent_p.T76T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	76	CUB 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAAGAGCAAAGGTATGGAAGG	0.423000													22	132					7.92952e-12	1.25454e-11	0.667858	1	0
PLXNA3	55558	broad.mit.edu	37	X	153688974	153688974	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:153688974A>G	ENST00000369682.3	+	2	626	c.451A>G	c.(451-453)Atg>Gtg	p.M151V		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	151	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCCGACTCCATGGCTGGTGT	0.647000													48	66					0	0	0.870114	0	0
TEX15	56154	broad.mit.edu	37	8	30703552	30703552	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:30703552G>T	ENST00000256246.2	-	1	3056	c.2982C>A	c.(2980-2982)tcC>tcA	p.S994S		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	994										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTAGTTTTCTGGAAAGACATT	0.343000													16	88					6.31663e-08	8.61244e-08	0.479597	1	0
COL27A1	85301	broad.mit.edu	37	9	116930159	116930159	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:116930159G>T	ENST00000356083.3	+	3	715	c.324G>T	c.(322-324)cgG>cgT	p.R108R		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	108	Laminin G-like.|TSP N-terminal.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCTCCCACCGGGTGAACCATG	0.672000													26	157					7.01153e-11	1.0626e-10	0.717897	1	0
PPP1R3A	5506	broad.mit.edu	37	7	113519927	113519927	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:113519927T>A	ENST00000284601.3	-	4	1288	c.1220A>T	c.(1219-1221)gAa>gTa	p.E407V		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	407					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TGAAGTAGTTTCCTCTGAAGG	0.403000													34	158					0	0	0.827153	0	0
AMER3	205147	broad.mit.edu	37	2	131521065	131521065	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:131521065C>T	ENST00000423981.1	+	2	1530	c.1420C>T	c.(1420-1422)Cca>Tca	p.P474S	AMER3_ENST00000321420.4_Missense_Mutation_p.P474S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GGCCCCAGCACCAGGCCCTGA	0.637000													17	29					0	0	0.539581	0	0
DNAH11	8701	broad.mit.edu	37	7	21641072	21641072	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:21641072A>T	ENST00000328843.6	+	18	3515	c.3484A>T	c.(3484-3486)Aat>Tat	p.N1162Y	DNAH11_ENST00000409508.3_Missense_Mutation_p.N1162Y			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1162	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAGAGAATTAAATGAAGGTGA	0.353000									Kartagener syndrome				5	57					0	0	0.248553	0	0
RGS22	26166	broad.mit.edu	37	8	101051212	101051212	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:101051212G>T	ENST00000360863.6	-	14	2307	c.2113C>A	c.(2113-2115)Cag>Aag	p.Q705K	RGS22_ENST00000523437.1_Missense_Mutation_p.Q693K|RGS22_ENST00000523287.1_Missense_Mutation_p.Q524K	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	705					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TAGAAAAGCTGATGATAAGCC	0.358000													9	65					0.0242445	0.0254996	0.479597	1	0
MKS1	54903	broad.mit.edu	37	17	56283680	56283680	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:56283680C>A	ENST00000393119.2	-	17	1626	c.1552G>T	c.(1552-1554)Ggg>Tgg	p.G518W	MKS1_ENST00000337050.7_Intron|MKS1_ENST00000546108.1_Missense_Mutation_p.G315W|MKS1_ENST00000313863.6_Missense_Mutation_p.K445N|MKS1_ENST00000537529.2_Missense_Mutation_p.G508W	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	518					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGGCTGAACCCTTCCAGACGG	0.587000													42	212					7.34454e-26	1.46037e-25	0.870114	1	0
MUC2	4583	broad.mit.edu	37	11	1083842	1083842	+	Splice_Site	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:1083842G>T	ENST00000441003.2	+	18	2400		c.e18+1		MUC2_ENST00000359061.5_Splice_Site	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming							inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CGCCGGCTATGTGCGTGTTGG	0.677000													6	29					0.0215528	0.0226801	0.217242	1	0
HSD3B7	80270	broad.mit.edu	37	16	30999192	30999192	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:30999192G>T	ENST00000297679.5	+	7	891	c.798G>T	c.(796-798)agG>agT	p.R266S	HSD3B7_ENST00000353250.5_3'UTR|HSD3B7_ENST00000262520.6_3'UTR	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	266					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CACCCTACAGGAGCTACGAGG	0.637000													48	194					2.47907e-22	4.74981e-22	0.870114	1	0
AMMECR1L	83607	broad.mit.edu	37	2	128628923	128628923	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:128628923C>A	ENST00000272647.5	-	4	678	c.418G>T	c.(418-420)Gtg>Ttg	p.V140L	AMMECR1L_ENST00000393001.1_Missense_Mutation_p.V140L	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	140	AMMECR1.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		TTCCACGTCACAAAGAGCGGA	0.453000													11	31					4.36969e-10	6.41847e-10	0.435327	1	0
PIWIL2	55124	broad.mit.edu	37	8	22212881	22212881	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:22212881C>A	ENST00000356766.6	+	23	2933	c.2785C>A	c.(2785-2787)Cac>Aac	p.H929N	PIWIL2_ENST00000454009.2_Missense_Mutation_p.H929N|PIWIL2_ENST00000521356.1_Missense_Mutation_p.H893N	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	929	Piwi.				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)		CAAACTGTGCCACATGTACTG	0.463000													14	94					1.15919e-05	1.41334e-05	0.575678	1	0
SLC25A3	5250	broad.mit.edu	37	12	98992439	98992439	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:98992439G>T	ENST00000188376.5	+	4	953	c.599G>T	c.(598-600)aGg>aTg	p.R200M	SLC25A3_ENST00000551917.1_Missense_Mutation_p.R201M|SLC25A3_ENST00000549338.1_Missense_Mutation_p.R200M|SLC25A3_ENST00000548847.1_Missense_Mutation_p.R200M|SLC25A3_ENST00000401722.3_Missense_Mutation_p.R200M|SLC25A3_ENST00000228318.3_Missense_Mutation_p.R201M|SLC25A3_ENST00000552981.1_Missense_Mutation_p.R200M	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	201					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		AACACTTTGAGGGATGCAGCT	0.408000													4	64					0.150653	0.154185	0.150653	1	0
ASXL3	80816	broad.mit.edu	37	18	31320166	31320166	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:31320166G>T	ENST00000269197.5	+	11	2798	c.2798G>T	c.(2797-2799)cGg>cTg	p.R933L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	933					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						ACACAGAGTCGGTTAGAAACC	0.393000													32	37					1.71298e-08	2.39118e-08	0.788014	1	0
ZNF284	342909	broad.mit.edu	37	19	44590985	44590985	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:44590985G>T	ENST00000421176.3	+	5	1570	c.1354G>T	c.(1354-1356)Gag>Tag	p.E452*	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				CCACACGGGAGAGAGACCTTA	0.423000													4	61					0.000602214	0.000674165	0.184627	1	0
ADAM33	80332	broad.mit.edu	37	20	3654743	3654743	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:3654743G>T	ENST00000356518.2	-	8	947	c.706C>A	c.(706-708)Cgt>Agt	p.R236S	ADAM33_ENST00000350009.2_Missense_Mutation_p.R236S|ADAM33_ENST00000379861.4_Missense_Mutation_p.R236S	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	236	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TCCAGGAGACGCTGTTTGGTG	0.657000													22	162					1.16857e-26	2.33942e-26	0.667858	1	0
LILRA2	11027	broad.mit.edu	37	19	55086463	55086463	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:55086463G>T	ENST00000251377.3	+	5	751	c.618G>T	c.(616-618)tgG>tgT	p.W206C	LILRA2_ENST00000391738.3_Missense_Mutation_p.W206C|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.W206C|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.W194C					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCTATGTGTGGTCTCTACCCA	0.587000													93	115					1.84609e-46	3.85762e-46	0.870114	1	0
ZNF212	7988	broad.mit.edu	37	7	148947615	148947615	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:148947615G>T	ENST00000335870.2	+	2	518	c.390G>T	c.(388-390)ccG>ccT	p.P130P		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GGCTGCCCCCGGGCAGCAAGG	0.582000													20	187					1.1804e-14	1.99356e-14	0.667858	1	0
PPAPDC1A	196051	broad.mit.edu	37	10	122280506	122280506	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:122280506G>C	ENST00000398250.1	+	5	696	c.344G>C	c.(343-345)cGc>cCc	p.R115P	PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.R105P|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.R115P|PPAPDC1A_ENST00000439221.1_Intron	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	115					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		TTCTTTTACCGCTGCTTTCCA	0.517000													26	160					0	0	0.750413	0	0
OC90	729330	broad.mit.edu	37	8	133053399	133053399	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:133053399A>T	ENST00000262283.5	-	9	1036	c.937T>A	c.(937-939)Tgc>Agc	p.C313S	OC90_ENST00000443356.2_Missense_Mutation_p.C117S|OC90_ENST00000603859.1_Missense_Mutation_p.C117S|OC90_ENST00000254627.3_Missense_Mutation_p.C117S			Q02509	OC90_HUMAN	otoconin 90	117					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TGCTGGAAGCAGCAGCTGTAG	0.567000													6	102					0	0	0.217242	0	0
RYR1	6261	broad.mit.edu	37	19	38949887	38949887	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:38949887C>T	ENST00000355481.4	+	19	2400	c.2269C>T	c.(2269-2271)Cgc>Tgc	p.R757C	RYR1_ENST00000359596.3_Missense_Mutation_p.R757C|RYR1_ENST00000360985.3_Missense_Mutation_p.R757C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	757	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CATCTCCTTCCGCATCAACGG	0.612000													6	84					0	0	0.278610	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136954	40136954	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:40136954G>T	ENST00000278198.2	-	2	2852	c.889C>A	c.(889-891)Cat>Aat	p.H297N	LRRC4C_ENST00000530763.1_Missense_Mutation_p.H297N|LRRC4C_ENST00000527150.1_Missense_Mutation_p.H297N|LRRC4C_ENST00000528697.1_Missense_Mutation_p.H297N			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	297					regulation of axonogenesis	integral to membrane	protein binding	p.H297N(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGATGTAAATGTATCCGCTCT	0.478000													35	159					3.68427e-32	7.56012e-32	0.853193	1	0
ACTL7A	10881	broad.mit.edu	37	9	111625398	111625398	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:111625398C>A	ENST00000333999.3	+	1	796	c.796C>A	c.(796-798)Cag>Aag	p.Q266K		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	266						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CGAATTCACCCAGGACCAGAT	0.557000													8	48					9.70103e-10	1.41281e-09	0.361761	1	0
ZNF813	126017	broad.mit.edu	37	19	53995063	53995063	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:53995063A>T	ENST00000396403.4	+	4	1705	c.1577A>T	c.(1576-1578)aAt>aTt	p.N526I	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TACAAGTGTAATGAATGTGGC	0.373000													13	46					0	0	0.479597	0	0
DSP	1832	broad.mit.edu	37	6	7575625	7575625	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:7575625A>C	ENST00000379802.3	+	18	2875	c.2534A>C	c.(2533-2535)cAg>cCg	p.Q845P	DSP_ENST00000418664.2_Missense_Mutation_p.Q845P	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	845	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACTTCACAGCAGTATCCACTT	0.428000													50	192					0	0	0.870114	0	0
VIT	5212	broad.mit.edu	37	2	37000973	37000973	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:37000973G>T	ENST00000379242.3	+	8	1021	c.719G>T	c.(718-720)aGg>aTg	p.R240M	VIT_ENST00000404084.1_Intron|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379241.3_Missense_Mutation_p.R240M|VIT_ENST00000389975.3_Missense_Mutation_p.R240M|VIT_ENST00000401530.1_Missense_Mutation_p.R240M	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	240						proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				AGCCAAAACAGGCCCAGAGCT	0.403000													3	40					0.004672	0.00502988	0.115264	1	0
NOX4	50507	broad.mit.edu	37	11	89088129	89088129	+	Splice_Site	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:89088129C>A	ENST00000535633.1	-	13	1456		c.e13+1		NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000542487.1_Splice_Site	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CTTTTGCTTACTTGGGATAAT	0.383000													6	29					0.00448238	0.00485631	0.307466	1	0
EML5	161436	broad.mit.edu	37	14	89206766	89206766	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:89206766T>C	ENST00000554922.1	-	5	924	c.676A>G	c.(676-678)Atc>Gtc	p.I226V	EML5_ENST00000380664.5_Missense_Mutation_p.I226V|EML5_ENST00000352093.5_Missense_Mutation_p.I226V	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	226						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATAAGATTGATTCCTTTCCAA	0.368000													9	36					0	0	0.387290	0	0
SI	6476	broad.mit.edu	37	3	164712131	164712131	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:164712131A>C	ENST00000264382.3	-	41	4817	c.4755T>G	c.(4753-4755)atT>atG	p.I1585M		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1585	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AGGTGTATCTAATATTTAGAA	0.353000										HNSCC(35;0.089)			17	90					0	0	0.624587	0	0
DPP6	1804	broad.mit.edu	37	7	154585861	154585861	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:154585861G>A	ENST00000404039.1	+	11	1604	c.1017G>A	c.(1015-1017)caG>caA	p.Q339Q	DPP6_ENST00000427557.1_Silent_p.Q296Q|DPP6_ENST00000377770.3_Silent_p.Q403Q|DPP6_ENST00000332007.3_Silent_p.Q341Q	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	403					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ACCGGGCGCAGAACGTGTCCA	0.632000													4	35					0	0	0.184627	0	0
LSMEM2	132228	broad.mit.edu	37	3	50324602	50324602	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:50324602T>C	ENST00000316436.3	+	4	551	c.464T>C	c.(463-465)cTc>cCc	p.L155P		NM_153215.1	NP_694947.1			leucine-rich single-pass membrane protein 2																		CTTCGGAGGCTCAACTCCAGT	0.607000													22	36					0	0	0.729181	0	0
ZNF628	89887	broad.mit.edu	37	19	55993033	55993033	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:55993033A>G	ENST00000598519.1	+	3	1026	c.473A>G	c.(472-474)aAg>aGg	p.K158R	ZNF628_ENST00000391718.2_Missense_Mutation_p.K154R	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	154						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		AAGGCCTTCAAGAACTCGTCC	0.662000													3	52					0	0	0.115264	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802005	185802005	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:185802005G>T	ENST00000302277.6	+	4	2476	c.1882G>T	c.(1882-1884)Gaa>Taa	p.E628*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	628						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TAGTTACACTGAAAATGCTGG	0.343000													20	176					9.22233e-05	0.00010728	0.681144	1	0
TEKT1	83659	broad.mit.edu	37	17	6716356	6716356	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:6716356C>G	ENST00000338694.2	-	6	775	c.646G>C	c.(646-648)Gac>Cac	p.D216H	TEKT1_ENST00000535086.1_Missense_Mutation_p.D70H	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	216					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TCCAACCAGTCTTCCAGACTC	0.557000													7	30					0	0	0.307466	0	0
TEX29	121793	broad.mit.edu	37	13	111995272	111995272	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr13:111995272G>T	ENST00000283547.1	+	5	538	c.409G>T	c.(409-411)Gat>Tat	p.D137Y		NM_152324.1	NP_689537.1	Q8N6K0	CM016_HUMAN	testis expressed 29	137						integral to membrane											CGAGGATAAGGATGATGGTGA	0.572000													12	47					9.04627e-18	1.6355e-17	0.435327	1	0
ERP44	23071	broad.mit.edu	37	9	102861092	102861092	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:102861092C>A	ENST00000262455.6	-	1	230	c.31G>T	c.(31-33)Gac>Tac	p.D11Y		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	11					cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						CATCTGAGGTCGGGTAAGGAT	0.627000													14	101					6.44725e-10	9.45658e-10	0.624587	1	0
PDZRN4	29951	broad.mit.edu	37	12	41966543	41966543	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:41966543C>A	ENST00000298919.7	+	10	1570	c.1182C>A	c.(1180-1182)tgC>tgA	p.C394*	PDZRN4_ENST00000402685.2_Nonsense_Mutation_p.C654*|PDZRN4_ENST00000539469.2_Nonsense_Mutation_p.C396*			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	654							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CAATTGAATGCAATCAAGGGG	0.438000													25	106					4.74835e-14	7.92164e-14	0.750413	1	0
RHCG	51458	broad.mit.edu	37	15	90020861	90020861	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:90020861G>T	ENST00000268122.4	-	7	1067	c.999C>A	c.(997-999)caC>caA	p.H333Q	RHCG_ENST00000544600.1_Missense_Mutation_p.H333Q	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	333					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					TGTCCTGGATGTGCAGCCGGG	0.622000													9	73					0.0809354	0.0836672	0.387290	1	0
TENM3	55714	broad.mit.edu	37	4	183650201	183650201	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:183650201C>A	ENST00000511685.1	+	14	2575	c.2452C>A	c.(2452-2454)Cct>Act	p.P818T	TENM3_ENST00000406950.2_Missense_Mutation_p.P818T|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		ACTGCCGGATCCTCAGGACAT	0.478000													10	50					2.32078e-09	3.34428e-09	0.479597	1	0
NFASC	23114	broad.mit.edu	37	1	204937377	204937377	+	Splice_Site	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:204937377C>A	ENST00000367172.4	+	9	1035	c.706_splice	c.e9-1	p.T236_splice	NFASC_ENST00000404076.1_Splice_Site_p.T230_splice|NFASC_ENST00000339876.6_Splice_Site_p.T236_splice|NFASC_ENST00000360049.4_Splice_Site_p.A247_splice|NFASC_ENST00000401399.1_Splice_Site_p.T236_splice|NFASC_ENST00000513543.1_Splice_Site_p.A247_splice|NFASC_ENST00000539706.1_Splice_Site_p.A247_splice|NFASC_ENST00000338515.6_Splice_Site_p.T236_splice|NFASC_ENST00000367169.4_Splice_Site_p.T236_splice|NFASC_ENST00000338586.6_Splice_Site_p.T236_splice|NFASC_ENST00000403080.1_Splice_Site_p.T236_splice|NFASC_ENST00000367171.4_Splice_Site_p.T236_splice|NFASC_ENST00000404907.1_Splice_Site_p.A247_splice|NFASC_ENST00000367170.4_Splice_Site_p.T236_splice			O94856	NFASC_HUMAN	neurofascin	236					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCTGTTTCAGCCCGAGGAGTT	0.577000													21	95					3.28513e-13	5.3671e-13	0.667858	1	0
SYTL5	94122	broad.mit.edu	37	X	37969615	37969615	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:37969615G>T	ENST00000357972.5	+	13	2022	c.1476G>T	c.(1474-1476)caG>caT	p.Q492H	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000456733.2_Missense_Mutation_p.Q514H|SYTL5_ENST00000297875.2_Missense_Mutation_p.Q492H			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	492	C2 1.				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						GAACTCTGCAGCTCTCAGTCT	0.448000													23	42					7.4402e-23	1.43625e-22	0.667858	1	0
NSD1	64324	broad.mit.edu	37	5	176707624	176707624	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:176707624G>T	ENST00000439151.2	+	18	5726	c.5681G>T	c.(5680-5682)cGt>cTt	p.R1894L	NSD1_ENST00000354179.4_Missense_Mutation_p.R1625L|NSD1_ENST00000347982.4_Missense_Mutation_p.R1625L|NSD1_ENST00000361032.4_Missense_Mutation_p.R1791L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1894	AWS.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GAAATACCCCGTTGCAACTGT	0.483000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			23	83					2.79863e-10	4.14642e-10	0.681144	1	0
CPZ	8532	broad.mit.edu	37	4	8621311	8621311	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:8621311C>G	ENST00000429646.2	+	9	3543	c.750C>G	c.(748-750)agC>agG	p.S250R	CPZ_ENST00000382480.2_Missense_Mutation_p.S505R|CPZ_ENST00000315782.6_Missense_Mutation_p.S631R|CPZ_ENST00000360986.4_Missense_Mutation_p.S642R			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	642					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.S642R(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CATCGCTGAGCACCCACAGGC	0.706000													6	62					0	0	0.217242	0	0
PTPN9	5780	broad.mit.edu	37	15	75782642	75782642	+	Splice_Site	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:75782642C>T	ENST00000306726.2	-	8	1481	c.968_splice	c.e8-1	p.M323_splice	PTPN9_ENST00000564970.1_5'UTR	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	323	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTCCTGGAGACCTGAAGGAAA	0.433000													11	66					0	0	0.435327	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884423	228884423	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:228884423C>G	ENST00000392056.3	-	7	1193	c.1147G>C	c.(1147-1149)Gat>Cat	p.D383H	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D383H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	383						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)		ACTTCTCCATCTTGTCTAGGA	0.458000													12	69					0	0	0.435327	0	0
GPR98	84059	broad.mit.edu	37	5	89938742	89938742	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:89938742C>T	ENST00000405460.2	+	13	2533	c.2437C>T	c.(2437-2439)Cga>Tga	p.R813*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	813					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCTACACTACCGAGTAGAGCC	0.418000													23	86					0	0	0.681144	0	0
CTNNA3	29119	broad.mit.edu	37	10	67680267	67680267	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:67680267T>A	ENST00000433211.1	-	18	2683	c.2509A>T	c.(2509-2511)Agt>Tgt	p.S837C	CTNNA3_ENST00000373735.1_Missense_Mutation_p.S176C|CTNNA3_ENST00000373744.4_Missense_Mutation_p.S837C	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	837					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CCAGCAGGACTCTGGATTCGG	0.468000													18	99					0	0	0.639603	0	0
ENPP2	5168	broad.mit.edu	37	8	120580446	120580446	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:120580446G>T	ENST00000427067.2	-	23	2343	c.2163C>A	c.(2161-2163)acC>acA	p.T721T	ENPP2_ENST00000075322.6_Silent_p.T700T|ENPP2_ENST00000522167.1_Silent_p.T335T|ENPP2_ENST00000259486.6_Silent_p.T752T|ENPP2_ENST00000522826.1_Silent_p.T725T			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	700					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GAACCATATTGGTTACAAGGA	0.318000													25	165					2.47987e-07	3.29153e-07	0.796494	1	0
FCRL3	115352	broad.mit.edu	37	1	157660307	157660307	+	Silent	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:157660307G>C	ENST00000368184.3	-	9	1719	c.1428C>G	c.(1426-1428)ccC>ccG	p.P476P	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.P476P	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	476	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GGGTGAGGACGGGGCGAGACA	0.537000													19	98					0	0	0.667858	0	0
TTBK1	84630	broad.mit.edu	37	6	43251380	43251380	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:43251380G>T	ENST00000259750.4	+	14	2985	c.2902G>T	c.(2902-2904)Ggg>Tgg	p.G968W		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	968						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)			GGCCTCTGATGGGGGCGCTGT	0.667000													7	52					1.12685e-05	1.37719e-05	0.307466	1	0
COL15A1	1306	broad.mit.edu	37	9	101825334	101825334	+	Silent	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:101825334A>T	ENST00000375001.3	+	39	4017	c.3594A>T	c.(3592-3594)ccA>ccT	p.P1198P		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1198	Nonhelical region 10 (NC10).				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)				CATAACAGCCACATCAGCTTC	0.373000													6	68					0	0	0.307466	0	0
RAD51B	5890	broad.mit.edu	37	14	68758658	68758658	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:68758658G>T	ENST00000487270.1	+	8	862	c.814G>T	c.(814-816)Gac>Tac	p.D272Y	RAD51B_ENST00000487861.1_Missense_Mutation_p.D272Y|RAD51B_ENST00000390683.3_Missense_Mutation_p.D272Y|RAD51B_ENST00000488612.1_Missense_Mutation_p.D272Y|RAD51B_ENST00000469165.2_3'UTR|RAD51B_ENST00000471583.1_Missense_Mutation_p.D272Y	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	272					blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						TTCTCAGGCAGACCTGGTGTC	0.527000								Direct reversal of damage					15	89					4.7546e-09	6.75654e-09	0.500413	1	0
USP36	57602	broad.mit.edu	37	17	76803278	76803278	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:76803278C>A	ENST00000312010.6	-	14	2172	c.1848G>T	c.(1846-1848)gaG>gaT	p.E616D	USP36_ENST00000449938.2_Missense_Mutation_p.E316D|USP36_ENST00000542802.2_Missense_Mutation_p.E616D	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	616					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TGGCCGAGTGCTCTGGGCTGG	0.662000													10	19					9.31168e-06	1.14417e-05	0.435327	1	0
TACC2	10579	broad.mit.edu	37	10	123969912	123969912	+	Splice_Site	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:123969912G>T	ENST00000369005.1	+	9	6312	c.5971_splice	c.e9-1	p.G1991_splice	TACC2_ENST00000358010.1_Splice_Site_p.G137_splice|TACC2_ENST00000260733.3_Splice_Site_p.G69_splice|TACC2_ENST00000369004.3_Splice_Site_p.G69_splice|TACC2_ENST00000368999.1_Splice_Site_p.G69_splice|TACC2_ENST00000515273.1_Splice_Site_p.G1995_splice|TACC2_ENST00000334433.3_Splice_Site_p.G1991_splice|TACC2_ENST00000513429.1_Splice_Site_p.G137_splice|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000360561.3_Splice_Site_p.G69_splice|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000515603.1_Splice_Site_p.G1946_splice|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000453444.2_Splice_Site_p.G1995_splice	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1991	Pro-rich.					microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GTTTCCCCAGGATGTGGTTCT	0.572000													6	43					2.17888e-05	2.62694e-05	0.335167	1	0
DSTYK	25778	broad.mit.edu	37	1	205156764	205156764	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:205156764C>A	ENST00000367162.3	-	2	466	c.436G>T	c.(436-438)Gag>Tag	p.E146*	DSTYK_ENST00000367161.3_Nonsense_Mutation_p.E146*|DSTYK_ENST00000367160.4_Nonsense_Mutation_p.E146*	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	146						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TTACAGCTCTCCTCACTGCCC	0.582000													5	69					0.184627	0.187367	0.184627	1	0
UNC5B	219699	broad.mit.edu	37	10	73039597	73039597	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:73039597G>T	ENST00000335350.6	+	2	515	c.99G>T	c.(97-99)gaG>gaT	p.E33D	UNC5B_ENST00000373192.4_Missense_Mutation_p.E33D	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	33					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CTGGCAGCGAGGTGCTCCCTG	0.657000													4	16					0.000602214	0.000674165	0.184627	1	0
TRIM67	440730	broad.mit.edu	37	1	231351142	231351142	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:231351142G>T	ENST00000444294.3	+	10	3160	c.2302G>T	c.(2302-2304)Gaa>Taa	p.E768*	TRIM67_ENST00000449018.3_Nonsense_Mutation_p.E708*|TRIM67_ENST00000366652.2_Intron|TRIM67_ENST00000366653.5_Nonsense_Mutation_p.E770*	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	770	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CACAGGATTGGAAGTGCCGAC	0.612000													5	42					2.0095e-06	2.53909e-06	0.248553	1	0
PKD2	5311	broad.mit.edu	37	4	88957381	88957381	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:88957381G>T	ENST00000237596.2	+	3	785	c.719G>T	c.(718-720)gGc>gTc	p.G240V		NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	240						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		GTGACCTACGGCATGATGAGC	0.488000													29	186					2.87052e-16	5.0604e-16	0.812448	1	0
BEND3	57673	broad.mit.edu	37	6	107390934	107390934	+	Silent	SNP	C	C	G	rs143332621		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:107390934C>G	ENST00000429433.2	-	5	2110	c.1461G>C	c.(1459-1461)gcG>gcC	p.A487A	BEND3_ENST00000369042.1_Silent_p.A487A	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	487	BEN 2.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CTTCACTGCCCGCGTCCAGCC	0.647000													7	63					0	0	0.307466	0	0
SCG2	7857	broad.mit.edu	37	2	224463217	224463217	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:224463217G>T	ENST00000305409.2	-	2	1016	c.784C>A	c.(784-786)Cag>Aag	p.Q262K		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	262					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		ACCTCTTCCTGGGTTTGACTC	0.428000													31	174					8.73648e-17	1.55214e-16	0.796494	1	0
NUP214	8021	broad.mit.edu	37	9	134025774	134025774	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:134025774G>T	ENST00000359428.5	+	15	2248	c.2104G>T	c.(2104-2106)Gta>Tta	p.V702L	RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.V703L|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.V692L|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	702	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTCAGATCCTGTAATGGCTGG	0.453000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								15	74					6.33239e-15	1.07567e-14	0.592651	1	0
AQP10	89872	broad.mit.edu	37	1	154296867	154296867	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:154296867G>T	ENST00000324978.3	+	6	857	c.817G>T	c.(817-819)Gag>Tag	p.E273*	AQP10_ENST00000484864.1_3'UTR	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	273					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGAGGGCCCAGAGCCAGCTCA	0.597000											OREG0013832	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	133					2.04263e-09	2.94553e-09	0.796494	1	0
FAR2	55711	broad.mit.edu	37	12	29446285	29446285	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:29446285C>A	ENST00000182377.4	+	3	510	c.242C>A	c.(241-243)gCt>gAt	p.A81D	RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_5'UTR|FAR2_ENST00000536681.2_Missense_Mutation_p.A81D	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	81					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						AAGATCAGAGCTATTTATGCA	0.358000													13	46					0.000308642	0.000350295	0.479597	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33576471	33576471	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:33576471C>A	ENST00000504830.1	-	19	3995	c.3660G>T	c.(3658-3660)ctG>ctT	p.L1220L	ADAMTS12_ENST00000352040.3_Silent_p.L1135L	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1220	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGCTGGGGAGCAGTCCTTCCA	0.557000										HNSCC(64;0.19)			26	173					3.1745e-13	5.20293e-13	0.729181	1	0
GLI1	2735	broad.mit.edu	37	12	57864117	57864117	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:57864117C>A	ENST00000228682.2	+	12	1685	c.1594C>A	c.(1594-1596)Cgc>Agc	p.R532S	GLI1_ENST00000543426.1_Missense_Mutation_p.R404S|GLI1_ENST00000546141.1_Missense_Mutation_p.R491S	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	532					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TGTGTCCCGCCGCGTGGGCCC	0.602000													30	243					3.3946e-10	5.02577e-10	0.812448	1	0
COL6A3	1293	broad.mit.edu	37	2	238296668	238296668	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:238296668G>T	ENST00000295550.4	-	4	1321	c.869C>A	c.(868-870)cCc>cAc	p.P290H	COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000353578.4_Missense_Mutation_p.P84H|COL6A3_ENST00000392004.3_Missense_Mutation_p.P84H|COL6A3_ENST00000346358.4_Missense_Mutation_p.P290H|COL6A3_ENST00000409809.1_Missense_Mutation_p.P84H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	290	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CATGGTTCTGGGCTCATCGCT	0.532000													13	109					1.5739e-10	2.35912e-10	0.500413	1	0
TTC12	54970	broad.mit.edu	37	11	113212616	113212616	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:113212616C>A	ENST00000393020.1	+	12	1359	c.954C>A	c.(952-954)ctC>ctA	p.L318L	TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000483239.2_Silent_p.L324L|TTC12_ENST00000529221.1_Silent_p.L318L|TTC12_ENST00000314756.3_Silent_p.L318L			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	318							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TGTCTGTTCTCAAGCTCTGGC	0.473000													13	116					0.00074312	0.000827841	0.539581	1	0
COLEC11	78989	broad.mit.edu	37	2	3687888	3687888	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:3687888G>T	ENST00000403096.3	+	4	708	c.217G>T	c.(217-219)Gac>Tac	p.D73Y	COLEC11_ENST00000236693.7_Missense_Mutation_p.D96Y|COLEC11_ENST00000382062.2_Missense_Mutation_p.D75Y|COLEC11_ENST00000404205.1_Missense_Mutation_p.D25Y|COLEC11_ENST00000349077.4_Missense_Mutation_p.D99Y|COLEC11_ENST00000418971.2_Missense_Mutation_p.D113Y|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000402922.1_Missense_Mutation_p.D49Y|COLEC11_ENST00000402794.1_Missense_Mutation_p.D49Y	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	99	Collagen-like.					collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		AGATTCCGGTGACATAGGACC	0.378000													3	35					2.56e-06	3.22277e-06	0.150653	1	0
SPANXC	64663	broad.mit.edu	37	X	140336542	140336542	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:140336542C>A	ENST00000358993.2	-	1	87	c.49G>T	c.(49-51)Gaa>Taa	p.E17*		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	17						cytoplasm|nucleus				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					TCGTTGGATTCACAGGGGACG	0.488000													44	117					2.76378e-25	5.46367e-25	0.870114	1	0
TRIML2	205860	broad.mit.edu	37	4	189020208	189020208	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:189020208C>G	ENST00000512729.1	-	4	826	c.452G>C	c.(451-453)gGc>gCc	p.G151A	TRIML2_ENST00000536972.1_Missense_Mutation_p.G201A|TRIML2_ENST00000326754.3_Missense_Mutation_p.G151A	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	151							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TGCCAAGGTGCCTTCCCCACA	0.458000													4	57					0	0	0.217242	0	0
SNHG8	100093630	broad.mit.edu	37	4	119200429	119200429	+	RNA	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:119200429G>T	ENST00000384096.1	+	0	85					NR_002963.1																						TGGCAAAGCTGTCACCATTTA	0.433000													6	92					0.00307968	0.00335074	0.278610	1	0
SYNDIG1L	646658	broad.mit.edu	37	14	74876292	74876292	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:74876292G>T	ENST00000331628.3	-	2	403	c.156C>A	c.(154-156)caC>caA	p.H52Q	SYNDIG1L_ENST00000554823.1_Missense_Mutation_p.H52Q	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	52					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						CCAGGAGCTGGTGGGCTCCGG	0.682000													9	19					0.0581538	0.0603294	0.335167	1	0
DDX60L	91351	broad.mit.edu	37	4	169342939	169342939	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:169342939C>A	ENST00000511577.1	-	17	2613	c.2366G>T	c.(2365-2367)gGg>gTg	p.G789V	DDX60L_ENST00000505890.1_Missense_Mutation_p.G789V|DDX60L_ENST00000260184.7_Missense_Mutation_p.G789V			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	789	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CACAACCACCCCGACATCGCT	0.468000													44	279					7.36392e-32	1.50806e-31	0.870114	1	0
NAALADL2	254827	broad.mit.edu	37	3	174951947	174951947	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:174951947G>T	ENST00000454872.1	+	3	900	c.772G>T	c.(772-774)Gac>Tac	p.D258Y	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	258					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TAGCAGCCAAGACCTGCTCTA	0.448000													18	66					5.03518e-11	7.71635e-11	0.557998	1	0
AP1G1	164	broad.mit.edu	37	16	71799424	71799424	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:71799424C>A	ENST00000299980.4	-	7	1147	c.706G>T	c.(706-708)Gat>Tat	p.D236Y	AP1G1_ENST00000569748.1_Missense_Mutation_p.D236Y|AP1G1_ENST00000433195.2_Missense_Mutation_p.D259Y|AP1G1_ENST00000423132.2_Missense_Mutation_p.D239Y|AP1G1_ENST00000393512.3_Missense_Mutation_p.D239Y	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	236					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				CCAGAAACATCATGTTCTGGT	0.343000													13	58					3.32936e-07	4.36819e-07	0.539581	1	0
KCNC2	3747	broad.mit.edu	37	12	75445045	75445045	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:75445045C>A	ENST00000549446.1	-	3	1420	c.740G>T	c.(739-741)tGc>tTc	p.C247F	KCNC2_ENST00000548513.1_Missense_Mutation_p.C247F|KCNC2_ENST00000350228.2_Missense_Mutation_p.C247F|KCNC2_ENST00000540018.1_Missense_Mutation_p.C247F|KCNC2_ENST00000341669.3_Missense_Mutation_p.C247F|KCNC2_ENST00000393288.2_Missense_Mutation_p.C247F|KCNC2_ENST00000298972.1_Missense_Mutation_p.C247F|KCNC2_ENST00000550433.1_Missense_Mutation_p.C247F	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	247					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						TGTTTCCAGGCAAAAAGTTGT	0.333000													3	22					0.115264	0.118498	0.115264	1	0
CCR5	1234	broad.mit.edu	37	3	46414775	46414775	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:46414775C>A	ENST00000343801.4	+	3	739	c.382C>A	c.(382-384)Ctg>Atg	p.L128M	CCR5_ENST00000292303.4_Missense_Mutation_p.L128M|CCR5_ENST00000445772.1_Missense_Mutation_p.L128M|RP11-24F11.2_ENST00000451485.1_RNA	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	128					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	CGATAGGTACCTGGCTGTCGT	0.473000													24	121					1.77063e-15	3.05579e-15	0.693898	1	0
OR5I1	10798	broad.mit.edu	37	11	55703700	55703700	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:55703700G>A	ENST00000301532.3	-	1	176	c.177C>T	c.(175-177)acC>acT	p.T59T		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T59T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AATACATGGGGGTTTGAAGGT	0.388000													9	65					0	0	0.387290	0	0
SETX	23064	broad.mit.edu	37	9	135147098	135147098	+	Splice_Site	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:135147098C>A	ENST00000372169.2	-	24	7380	c.7199_splice	c.e24+1	p.G2400_splice	SETX_ENST00000393220.1_Intron|SETX_ENST00000224140.5_Splice_Site_p.G2400_splice|SETX_ENST00000477049.1_5'UTR			Q7Z333	SETX_HUMAN	senataxin	2400					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GTAACTCACCCAATTGAACCT	0.398000													46	162					3.39706e-21	6.44247e-21	0.870114	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33576900	33576900	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:33576900G>T	ENST00000504830.1	-	19	3566	c.3231C>A	c.(3229-3231)agC>agA	p.S1077R	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S992R	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1077	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GATAGCGAGAGCTCAGCTCAG	0.517000										HNSCC(64;0.19)			65	67					7.81431e-29	1.58292e-28	0.870114	1	0
DLG2	1740	broad.mit.edu	37	11	83641414	83641414	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:83641414A>T	ENST00000398309.2	-	10	1608	c.1138T>A	c.(1138-1140)Tcc>Acc	p.S380T	DLG2_ENST00000376104.2_Missense_Mutation_p.S485T|DLG2_ENST00000543673.1_Missense_Mutation_p.S485T|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_Missense_Mutation_p.S134T|DLG2_ENST00000330014.6_Missense_Mutation_p.S319T|DLG2_ENST00000398301.2_Missense_Mutation_p.S419T|DLG2_ENST00000532653.1_Missense_Mutation_p.S380T|DLG2_ENST00000524982.1_Missense_Mutation_p.S380T|DLG2_ENST00000531015.1_Missense_Mutation_p.S347T|DLG2_ENST00000280241.8_Missense_Mutation_p.S419T|DLG2_ENST00000418306.2_Intron	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	380						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGGTAGTGGGAATAGGGAGCT	0.498000													5	108					0	0	0.248553	0	0
IGHV1OR16-4	28312	broad.mit.edu	37	16	33013824	33013824	+	RNA	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:33013824G>T	ENST00000567619.1	-	0	499																											CTGGGGCTGAGGTGAAGAAGC	0.597000													10	72					0.0558828	0.0580321	0.592651	1	0
WNK2	65268	broad.mit.edu	37	9	95993280	95993280	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:95993280G>A	ENST00000297954.4	+	3	965	c.965G>A	c.(964-966)cGa>cAa	p.R322Q	WNK2_ENST00000395475.2_Missense_Mutation_p.R308Q|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.R322Q|WNK2_ENST00000427277.2_5'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	322	Protein kinase.				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						ATCATCCACCGAGACCTGAAA	0.547000													44	121					0	0	0.870114	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54676240	54676240	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:54676240G>A	ENST00000546500.1	+	5	1168	c.553G>A	c.(553-555)Gag>Aag	p.E185K	HNRNPA1_ENST00000340913.6_Missense_Mutation_p.E185K|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.E185K|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.E185K			P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	185	Globular B domain.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						GTCAAAGCAAGAGATGGCTAG	0.363000													14	58					0	0	0.500413	0	0
GSX2	170825	broad.mit.edu	37	4	54967986	54967986	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:54967986G>T	ENST00000326902.2	+	2	1126	c.812G>T	c.(811-813)gGc>gTc	p.G271V	GSX2_ENST00000548609.1_3'UTR|GSX2_ENST00000503800.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	271						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			AGTCACGCGGGCTGCAAGTGC	0.597000													20	70					2.37509e-13	3.90207e-13	0.592651	1	0
MYF6	4618	broad.mit.edu	37	12	81102718	81102718	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:81102718G>A	ENST00000228641.3	+	3	930	c.708G>A	c.(706-708)gtG>gtA	p.V236V		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	236					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						TCCCCTGCGTGGAGGAAGTGG	0.537000													6	44					0	0	0.217242	0	0
LRFN2	57497	broad.mit.edu	37	6	40400492	40400492	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:40400492G>T	ENST00000338305.6	-	2	903	c.361C>A	c.(361-363)Cgg>Agg	p.R121R		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	121						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACCAGGCCCCGGAGGGTGTCC	0.582000													5	28					0.00198382	0.00217109	0.248553	1	0
ADCY1	107	broad.mit.edu	37	7	45701749	45701749	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:45701749G>T	ENST00000297323.7	+	8	1563	c.1541G>T	c.(1540-1542)tGc>tTc	p.C514F	ADCY1_ENST00000432715.1_Missense_Mutation_p.C289F	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	514	Interaction with calmodulin (By similarity).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CTCATGCACTGCCGGAAAATG	0.522000													4	35					0.00909568	0.00968067	0.150653	1	0
KCNB1	3745	broad.mit.edu	37	20	47990291	47990291	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:47990291G>T	ENST00000371741.4	-	2	1972	c.1806C>A	c.(1804-1806)acC>acA	p.T602T		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	602					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGGAGAATCTGGTGGCCTCAG	0.577000													5	56					0.00198382	0.00217109	0.248553	1	0
MYOC	4653	broad.mit.edu	37	1	171605645	171605645	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:171605645G>C	ENST00000037502.5	-	3	994	c.935C>G	c.(934-936)cCt>cGt	p.P312R		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	312	Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AACCTTAGAAGGGTAGCCCTG	0.547000													16	70					0	0	0.557998	0	0
CACNA1E	777	broad.mit.edu	37	1	181727944	181727944	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:181727944C>G	ENST00000526775.1	+	31	4653	c.4488C>G	c.(4486-4488)atC>atG	p.I1496M	CACNA1E_ENST00000357570.5_Missense_Mutation_p.I1466M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.I1496M|CACNA1E_ENST00000367573.2_Missense_Mutation_p.I1515M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.I1515M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.I1447M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.I1122M	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1515					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACCTGAATATCGCCTTCACCA	0.458000													9	103					0	0	0.457914	0	0
UBR4	23352	broad.mit.edu	37	1	19403330	19403330	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:19403330C>A	ENST00000375267.2	-	106	15457	c.15454G>T	c.(15454-15456)Gac>Tac	p.D5152Y	UBR4_ENST00000543981.1_Missense_Mutation_p.D795Y|UBR4_ENST00000429347.2_Missense_Mutation_p.D654Y|UBR4_ENST00000375225.3_Missense_Mutation_p.D206Y|UBR4_ENST00000375224.1_Missense_Mutation_p.D838Y|UBR4_ENST00000375254.3_Missense_Mutation_p.D5131Y|UBR4_ENST00000375217.2_Missense_Mutation_p.D5124Y|UBR4_ENST00000375226.2_Missense_Mutation_p.D5107Y			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	5131					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATGGGCATGTCGTTGTGGCGG	0.547000													26	142					8.88839e-20	1.65658e-19	0.750413	1	0
FBLN2	2199	broad.mit.edu	37	3	13659780	13659780	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:13659780G>T	ENST00000404922.3	+	6	2053	c.1934G>T	c.(1933-1935)cGc>cTc	p.R645L	FBLN2_ENST00000492059.1_Missense_Mutation_p.R645L|FBLN2_ENST00000295760.7_Missense_Mutation_p.R645L|FBLN2_ENST00000535798.1_Missense_Mutation_p.R671L	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	645	EGF-like 1; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CGCACTTGCCGCCCAGGTAAG	0.617000													12	34					0.00185496	0.00204205	0.435327	1	0
C20orf26	26074	broad.mit.edu	37	20	20226852	20226852	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:20226852G>T	ENST00000245957.5	+	19	2228	c.2152G>T	c.(2152-2154)Gcc>Tcc	p.A718S	C20orf26_ENST00000389656.3_Missense_Mutation_p.A74S|C20orf26_ENST00000377309.2_Missense_Mutation_p.A74S|C20orf26_ENST00000377293.1_Missense_Mutation_p.A74S	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	718										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GAAATTTTTAGCCAGCGAGTA	0.353000													9	46					1.08611e-07	1.4624e-07	0.387290	1	0
SPATA18	132671	broad.mit.edu	37	4	52926953	52926953	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:52926953C>A	ENST00000295213.4	+	3	573	c.199C>A	c.(199-201)Cgt>Agt	p.R67S	SPATA18_ENST00000419395.2_Missense_Mutation_p.R67S|SPATA18_ENST00000506829.1_Intron	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	67					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	p.R67C(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			tTTAGGAGGACGTAATGATGG	0.458000													6	70					0.000157383	0.000181637	0.278610	1	0
WIF1	11197	broad.mit.edu	37	12	65448993	65448993	+	Splice_Site	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:65448993G>T	ENST00000286574.4	-	9	1297	c.922_splice	c.e9-1	p.P308_splice		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	308	EGF-like 5.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CTCGCAGACAGCTAGAATCAA	0.398000			T	HMGA2	pleomorphic salivary gland adenoma								10	55					1.08611e-07	1.4624e-07	0.387290	1	0
DGCR8	54487	broad.mit.edu	37	22	20074813	20074813	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:20074813G>A	ENST00000351989.3	+	3	1278	c.849G>A	c.(847-849)ccG>ccA	p.P283P	DGCR8_ENST00000407755.1_Silent_p.P283P|DGCR8_ENST00000383024.2_Silent_p.P283P	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	283	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with NCL.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GTGTGCAGCCGATGATGACCA	0.522000													9	65					0	0	0.335167	0	0
ZNF578	147660	broad.mit.edu	37	19	53014565	53014565	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:53014565G>A	ENST00000421239.2	+	6	1175	c.931G>A	c.(931-933)Ggt>Agt	p.G311S	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ATGTCACACTGGTGAGAAACC	0.418000													5	118					0	0	0.184627	0	0
DPP4	1803	broad.mit.edu	37	2	162875237	162875237	+	Splice_Site	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:162875237A>T	ENST00000360534.3	-	16	1981		c.e16+1			NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4						cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	GCTCAGACTTACCGGAACATC	0.488000													18	75					0	0	0.592651	0	0
PGA5	5222	broad.mit.edu	37	11	61018742	61018742	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:61018742C>T	ENST00000312403.5	+	9	1341	c.1156C>T	c.(1156-1158)Cct>Tct	p.P386S	PGA5_ENST00000541528.1_Missense_Mutation_p.P126S|PGA4_ENST00000422676.2_Missense_Mutation_p.P386S|PGA5_ENST00000451616.2_Missense_Mutation_p.P232S	NM_014224.2	NP_055039.1	P00790	PEPA_HUMAN	pepsinogen 5, group I (pepsinogen A)	386					digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity			large_intestine(1)|skin(1)	2						CGGCCTGGCCCCTGTGGCTTA	0.542000													63	197					0	0	0.870114	0	0
EGF	1950	broad.mit.edu	37	4	110882025	110882025	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:110882025G>A	ENST00000265171.5	+	7	1514	c.1069G>A	c.(1069-1071)Gtt>Att	p.V357I	EGF_ENST00000503392.1_Missense_Mutation_p.V357I|EGF_ENST00000509793.1_Missense_Mutation_p.V315I	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	357	EGF-like 2; calcium-binding (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TTGTGCAGATGTTAATGAATG	0.398000													17	60					0	0	0.592651	0	0
ZAN	7455	broad.mit.edu	37	7	100345256	100345256	+	RNA	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:100345256C>G	ENST00000542585.1	+	0	1163				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGCCGTGGGACGGATACAGGT	0.527000													15	95					0	0	0.500413	0	0
PSD4	23550	broad.mit.edu	37	2	113943728	113943728	+	Silent	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:113943728A>G	ENST00000245796.6	+	5	1719	c.1524A>G	c.(1522-1524)gcA>gcG	p.A508A	PSD4_ENST00000441564.2_Silent_p.A480A	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	508					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAAAGGAGGCAGGGGAGGCCC	0.537000													8	53					0	0	0.278610	0	0
OR56A1	120796	broad.mit.edu	37	11	6048202	6048202	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:6048202G>T	ENST00000316650.5	-	1	769	c.733C>A	c.(733-735)Ctg>Atg	p.L245M		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGTGCTCAGGGCCTTCACT	0.502000													17	42					4.63292e-17	8.26675e-17	0.575678	1	0
LRRIQ3	127255	broad.mit.edu	37	1	74621484	74621484	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:74621484C>A	ENST00000354431.4	-	4	831	c.640G>T	c.(640-642)Gct>Tct	p.A214S	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.A214S|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.A106S|LRRIQ3_ENST00000468759.1_5'UTR	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	214										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GAATTATGAGCCAGAATTGCA	0.249000													7	51					0.000274275	0.000312327	0.307466	1	0
ZZEF1	23140	broad.mit.edu	37	17	3989093	3989093	+	Silent	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:3989093C>G	ENST00000381638.2	-	16	2641	c.2517G>C	c.(2515-2517)gtG>gtC	p.V839V	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	839							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CCACCTTGTCCACCACTGATA	0.403000													25	111					0	0	0.750413	0	0
FXYD5	53827	broad.mit.edu	37	19	35655065	35655065	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:35655065C>A	ENST00000342879.3	+	5	1077	c.299C>A	c.(298-300)cCc>cAc	p.P100H	FXYD5_ENST00000392219.2_Missense_Mutation_p.P100H|FXYD5_ENST00000590686.1_Missense_Mutation_p.P100H|FXYD5_ENST00000392217.3_Missense_Mutation_p.P29H|FXYD5_ENST00000543307.1_Missense_Mutation_p.P100H|FXYD5_ENST00000588699.1_Missense_Mutation_p.P100H|FXYD5_ENST00000541435.2_Missense_Mutation_p.P100H|FXYD5_ENST00000423817.3_Missense_Mutation_p.P100H|FXYD5_ENST00000591716.2_3'UTR			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	100					microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TCAGCTCATCCCACTGATGAC	0.557000													30	127					1.04352e-10	1.57448e-10	0.788014	1	0
LRRC15	131578	broad.mit.edu	37	3	194081489	194081489	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:194081489C>T	ENST00000347624.3	-	2	369	c.284G>A	c.(283-285)gGg>gAg	p.G95E	LRRC15_ENST00000439944.2_Missense_Mutation_p.G101E|LRRC15_ENST00000428839.1_Missense_Mutation_p.G101E	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	95						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TCGGAAGGCCCCAGGCGTGAT	0.587000													15	90					0	0	0.575678	0	0
BNC1	646	broad.mit.edu	37	15	83935602	83935602	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:83935602C>A	ENST00000345382.2	-	3	506	c.421G>T	c.(421-423)Gga>Tga	p.G141*	BNC1_ENST00000569704.1_Nonsense_Mutation_p.G134*|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	141					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AGTACGTATCCACGGATATAA	0.463000													19	125					5.45024e-15	9.27354e-15	0.654019	1	0
MAP3K13	9175	broad.mit.edu	37	3	185146344	185146344	+	Translation_Start_Site	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:185146344A>T	ENST00000265026.3	+	0	309				MAP3K13_ENST00000443863.1_Intron|MAP3K13_ENST00000424227.1_De_novo_Start_OutOfFrame|MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000535426.1_Intron	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13						activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GTGTCATCTCAGGACTTTGGT	0.448000													13	16					0	0	0.411799	0	0
RSBN1	54665	broad.mit.edu	37	1	114308767	114308767	+	Silent	SNP	T	T	A	rs150690405		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:114308767T>A	ENST00000261441.5	-	7	2307	c.2244A>T	c.(2242-2244)acA>acT	p.T748T	RSBN1_ENST00000369581.2_5'UTR	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	748						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTGAATCTCTGTGCATGCTT	0.393000													32	111					0	0	0.788014	0	0
TRBV6-6	28601	broad.mit.edu	37	7	142162402	142162402	+	RNA	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:142162402G>T	ENST00000390371.3	-	0	5																											CTGTATCTGTGCATTGATGAA	0.592000													14	44					0.000219431	0.000252395	0.457914	1	0
KCNAB1	7881	broad.mit.edu	37	3	156009789	156009789	+	Silent	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:156009789T>C	ENST00000302490.8	+	1	964	c.93T>C	c.(91-93)aaT>aaC	p.N31N	KCNAB1_ENST00000490337.1_Intron|KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000389634.5_Silent_p.N31N|KCNAB1_ENST00000471742.1_Intron	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	50						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CCGCCCCCAATGTGGTGAACG	0.572000													17	75					0	0	0.520397	0	0
MIER2	54531	broad.mit.edu	37	19	307381	307381	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:307381G>A	ENST00000264819.4	-	13	1364	c.1354C>T	c.(1354-1356)Cca>Tca	p.P452S		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		TATGAGGCTGGGTCGGCCAGG	0.682000													3	15					0	0	0.115264	0	0
ZFR2	23217	broad.mit.edu	37	19	3834883	3834883	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:3834883G>T	ENST00000262961.4	-	2	162	c.152C>A	c.(151-153)cCa>cAa	p.P51Q	ZFR2_ENST00000591965.1_5'UTR	NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	51						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CGGGGCAGCTGGGGGAAAGGC	0.701000													6	13					0.00307968	0.00335074	0.278610	1	0
ZNF443	10224	broad.mit.edu	37	19	12541141	12541141	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:12541141C>T	ENST00000301547.5	-	4	2042	c.1845G>A	c.(1843-1845)ccG>ccA	p.P615P	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	615					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TACATTCATACGGGTTCTCTC	0.403000													3	59					0	0	0.115264	0	0
PTDSS1	9791	broad.mit.edu	37	8	97316405	97316405	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:97316405G>T	ENST00000517309.1	+	7	1216	c.890G>T	c.(889-891)tGg>tTg	p.W297L	PTDSS1_ENST00000455950.2_Missense_Mutation_p.W151L|PTDSS1_ENST00000522072.1_Missense_Mutation_p.W94L	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	297					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	ATGATCATCTGGCAGGTATTT	0.378000													20	176					2.39556e-15	4.11012e-15	0.639603	1	0
ZNF496	84838	broad.mit.edu	37	1	247464416	247464416	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:247464416C>G	ENST00000294753.4	-	9	1633	c.1169G>C	c.(1168-1170)cGg>cCg	p.R390P	ZNF496_ENST00000366498.2_Missense_Mutation_p.R426P|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	390					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GGTGCTGCTCCGGTGGGAGGC	0.642000													10	57					0	0	0.335167	0	0
RELN	5649	broad.mit.edu	37	7	103338337	103338337	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:103338337G>T	ENST00000424685.2	-	10	1265	c.1106C>A	c.(1105-1107)aCa>aAa	p.T369K	RELN_ENST00000343529.5_Missense_Mutation_p.T369K|RELN_ENST00000428762.1_Missense_Mutation_p.T369K			P78509	RELN_HUMAN	reelin	369					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCAGTTGCCTGTGTCCACTGG	0.423000													30	69					7.01153e-11	1.0626e-10	0.717897	1	0
NAALADL1	10004	broad.mit.edu	37	11	64825656	64825656	+	Silent	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:64825656C>G	ENST00000358658.3	-	2	279	c.252G>C	c.(250-252)ctG>ctC	p.L84L	NAALADL1_ENST00000339885.2_Silent_p.L84L|NAALADL1_ENST00000356632.3_Silent_p.L84L|NAALADL1_ENST00000355721.3_Silent_p.L84L|NAALADL1_ENST00000355369.2_Silent_p.L84L|NAALADL1_ENST00000340252.4_Silent_p.L84L	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	84					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						TCCAGCGCTGCAGCAGCAGCT	0.677000													4	33					0	0	0.150653	0	0
ALPK2	115701	broad.mit.edu	37	18	56247564	56247564	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:56247564C>T	ENST00000361673.3	-	4	657	c.444G>A	c.(442-444)aaG>aaA	p.K148K		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	148							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						TTTCTTCTTCCTTATAAGGAT	0.493000													20	98					0	0	0.557998	0	0
GRAP2	9402	broad.mit.edu	37	22	40356103	40356103	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:40356103T>A	ENST00000344138.4	+	4	478	c.215T>A	c.(214-216)cTc>cAc	p.L72H	GRAP2_ENST00000407075.3_Missense_Mutation_p.L72H|GRAP2_ENST00000540310.1_Intron|GRAP2_ENST00000544756.1_5'UTR|GRAP2_ENST00000543252.1_Intron|GRAP2_ENST00000399090.2_Silent_p.T15T|GRAP2_ENST00000478445.1_3'UTR	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	72	SH2.				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GAGAACTTACTCATGGGCAAG	0.547000													11	501					0	0	0.387290	0	0
ZNF398	57541	broad.mit.edu	37	7	148876113	148876113	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:148876113G>T	ENST00000420008.2	+	6	1424	c.636G>T	c.(634-636)gcG>gcT	p.A212A	ZNF398_ENST00000483892.1_Silent_p.A212A|ZNF398_ENST00000491174.1_Silent_p.A212A|ZNF398_ENST00000335901.4_Silent_p.A212A|ZNF398_ENST00000540950.1_Silent_p.A388A|ZNF398_ENST00000475153.1_Silent_p.A383A|ZNF398_ENST00000426851.2_Silent_p.A212A	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	383	KRAB.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CTCCACAGGCGGACCTCAGCA	0.567000													48	179					4.25531e-23	8.23765e-23	0.870114	1	0
SP1	6667	broad.mit.edu	37	12	53800367	53800367	+	Splice_Site	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:53800367A>G	ENST00000426431.2	+	4	1714		c.e4-1		SP1_ENST00000327443.4_Splice_Site	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor						positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		TCTTAATTTCAGGTGATCATG	0.478000													10	67					0	0	0.435327	0	0
APPL1	26060	broad.mit.edu	37	3	57272145	57272145	+	Splice_Site	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:57272145G>T	ENST00000288266.3	+	4	432		c.e4+1			NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1						apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TATAGATGAGGTAAACGTTTA	0.318000													8	26					0.000442599	0.000499293	0.335167	1	0
INMT-FAM188B	100526825	broad.mit.edu	37	7	30868293	30868293	+	Splice_Site	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:30868293A>T	ENST00000458257.1	+	8	1600		c.e8-1		FAM188B_ENST00000265299.6_Splice_Site																							TCTATTTTCCAGGAAAAATCA	0.517000													14	209					0	0	0.539581	0	0
KCNMA1	3778	broad.mit.edu	37	10	78669794	78669794	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:78669794A>T	ENST00000286627.5	-	24	3855	c.2903T>A	c.(2902-2904)cTg>cAg	p.L968Q	RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.L1029Q|KCNMA1_ENST00000404771.3_Missense_Mutation_p.L1026Q|KCNMA1_ENST00000286628.8_Missense_Mutation_p.L1026Q|KCNMA1_ENST00000404857.1_Missense_Mutation_p.L1009Q|KCNMA1_ENST00000372440.1_Missense_Mutation_p.L968Q|RP11-443A13.5_ENST00000600782.1_RNA|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.L995Q|KCNMA1_ENST00000406533.3_Missense_Mutation_p.L1030Q	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1026					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CGTGAGGTACAGTTCTGTATC	0.473000													11	68					0	0	0.457914	0	0
ZFR2	23217	broad.mit.edu	37	19	3813919	3813919	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:3813919G>T	ENST00000262961.4	-	14	2151	c.2141C>A	c.(2140-2142)cCt>cAt	p.P714H		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	714						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GTTGGCTTCAGGGTCGGAGGA	0.547000													7	35					0.00307968	0.00335074	0.278610	1	0
UNC79	57578	broad.mit.edu	37	14	94063745	94063745	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:94063745C>T	ENST00000553484.1	+	24	3385	c.3231C>T	c.(3229-3231)caC>caT	p.H1077H	UNC79_ENST00000256339.4_Silent_p.H900H|UNC79_ENST00000555664.1_Silent_p.H1077H|UNC79_ENST00000393151.2_Silent_p.H1077H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1077						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGGATATTCACTCAGTAACCA	0.463000													13	108					0	0	0.479597	0	0
CLCN1	1180	broad.mit.edu	37	7	143027918	143027918	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:143027918T>A	ENST00000343257.2	+	8	994	c.907T>A	c.(907-909)Tgg>Agg	p.W303R	CLCN1_ENST00000495612.1_3'UTR	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	303					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TCGGAACTACTGGAGAGGATT	0.557000													35	76					0	0	0.812448	0	0
GRB10	2887	broad.mit.edu	37	7	50799978	50799978	+	Silent	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:50799978C>G	ENST00000398812.2	-	1	72	c.42G>C	c.(40-42)ccG>ccC	p.P14P	GRB10_ENST00000403097.1_Intron|GRB10_ENST00000357271.5_Silent_p.P14P|GRB10_ENST00000401949.1_Silent_p.P14P|GRB10_ENST00000335866.3_Intron|GRB10_ENST00000407526.1_Intron|GRB10_ENST00000402497.1_Intron|GRB10_ENST00000406641.1_Intron	NM_005311.4	NP_005302.3	Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	14					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CCTGGTAGTACGGATGGTGCA	0.537000									Russell-Silver syndrome				38	120					0	0	0.870114	0	0
UGT2A3	79799	broad.mit.edu	37	4	69816779	69816779	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:69816779A>G	ENST00000251566.4	-	1	730	c.700T>C	c.(700-702)Tat>Cat	p.Y234H	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	234						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCCTTACTATAAAACTCTTCC	0.274000													13	32					0	0	0.457914	0	0
MMP9	4318	broad.mit.edu	37	20	44640211	44640211	+	Splice_Site	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:44640211A>T	ENST00000372330.3	+	6	842		c.e6-1			NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)						collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TCCTCGCCCCAGGACTCTACA	0.562000													12	188					0	0	0.479597	0	0
KIF17	57576	broad.mit.edu	37	1	21031393	21031393	+	Splice_Site	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:21031393C>A	ENST00000247986.2	-	5	981		c.e5-1		KIF17_ENST00000375044.1_Splice_Site|KIF17_ENST00000400463.3_Splice_Site			Q9P2E2	KIF17_HUMAN	kinesin family member 17						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)		CCCCGCTCATCTGCACACAGA	0.682000													15	62					0.000308642	0.000350295	0.479597	1	0
FLRT2	23768	broad.mit.edu	37	14	86089532	86089532	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:86089532G>T	ENST00000330753.4	+	2	2441	c.1674G>T	c.(1672-1674)ttG>ttT	p.L558F	FLRT2_ENST00000554746.1_Missense_Mutation_p.L558F	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	558					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGGTGGTCTTGCTCAGCGTCT	0.587000													4	115					5.9392e-07	7.72322e-07	0.217242	1	0
PRAMEF11	440560	broad.mit.edu	37	1	12887604	12887604	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:12887604A>T	ENST00000535591.1	-	3	448	c.253T>A	c.(253-255)Ttc>Atc	p.F85I		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	85										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GCATTGAGGAAGCACCCATGG	0.478000													51	268					0	0	0.870114	0	0
CCDC73	493860	broad.mit.edu	37	11	32697559	32697559	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:32697559C>A	ENST00000335185.5	-	8	481	c.438G>T	c.(436-438)aaG>aaT	p.K146N	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	146										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					GTAACTGGACCTTTTGTTCCT	0.318000													7	71					1.12685e-05	1.37719e-05	0.307466	1	0
SHOX2	6474	broad.mit.edu	37	3	157817718	157817718	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:157817718G>A	ENST00000490689.2	-	4	1779	c.246C>T	c.(244-246)gcC>gcT	p.A82A	SHOX2_ENST00000483851.2_Silent_p.A211A|SHOX2_ENST00000441443.2_Silent_p.A82A|SHOX2_ENST00000425436.3_Silent_p.A211A|SHOX2_ENST00000389589.4_Silent_p.A235A			O60902	SHOX2_HUMAN	short stature homeobox 2	211	Poly-Gly.				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CAAACTGGCTGGCGGCCCCTA	0.428000													6	34					0	0	0.307466	0	0
TRIM51	84767	broad.mit.edu	37	11	55658649	55658649	+	Silent	SNP	C	C	A	rs35527108		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:55658649C>A	ENST00000449290.2	+	7	992	c.900C>A	c.(898-900)atC>atA	p.I300I	TRIM51_ENST00000244891.3_Silent_p.I157I	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	300	B30.2/SPRY.					intracellular	zinc ion binding										ATAGTCATATCTTCCTGTGTG	0.348000													19	110					1.96292e-10	2.91878e-10	0.592651	1	0
GAK	2580	broad.mit.edu	37	4	860797	860797	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:860797G>A	ENST00000314167.4	-	21	2929	c.2819C>T	c.(2818-2820)cCg>cTg	p.P940L	GAK_ENST00000511163.1_Missense_Mutation_p.P861L|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	940					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGGAGGGGCCGGGCTTGCCAG	0.677000													5	92					0	0	0.217242	0	0
TCF4	6925	broad.mit.edu	37	18	52899875	52899875	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:52899875C>A	ENST00000354452.3	-	17	2125	c.1514G>T	c.(1513-1515)aGt>aTt	p.S505I	TCF4_ENST00000568673.1_Missense_Mutation_p.S481I|TCF4_ENST00000537578.1_Missense_Mutation_p.S481I|TCF4_ENST00000564228.1_Missense_Mutation_p.S434I|TCF4_ENST00000564999.1_Missense_Mutation_p.S505I|TCF4_ENST00000537856.3_Missense_Mutation_p.S375I|TCF4_ENST00000564403.2_Missense_Mutation_p.S511I|TCF4_ENST00000570287.2_Missense_Mutation_p.S345I|TCF4_ENST00000540999.1_Missense_Mutation_p.S481I|TCF4_ENST00000565018.2_Missense_Mutation_p.S505I|TCF4_ENST00000561831.3_Missense_Mutation_p.S345I|TCF4_ENST00000570177.2_Missense_Mutation_p.S375I|TCF4_ENST00000567880.1_Missense_Mutation_p.S445I|TCF4_ENST00000356073.4_Missense_Mutation_p.S505I|TCF4_ENST00000561992.1_Missense_Mutation_p.S375I|TCF4_ENST00000543082.1_Missense_Mutation_p.S463I|TCF4_ENST00000566286.1_Missense_Mutation_p.S502I|TCF4_ENST00000457482.3_Missense_Mutation_p.S345I|TCF4_ENST00000566279.1_Missense_Mutation_p.S445I|TCF4_ENST00000398339.1_Missense_Mutation_p.S607I|TCF4_ENST00000544241.2_Missense_Mutation_p.S434I|TCF4_ENST00000568740.1_Missense_Mutation_p.S480I	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	505					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AGAGGAGACACTCTGCCCCTG	0.512000													12	49					7.93312e-07	1.02125e-06	0.457914	1	0
OR2T4	127074	broad.mit.edu	37	1	248525530	248525530	+	Silent	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:248525530A>G	ENST00000366475.1	+	1	648	c.648A>G	c.(646-648)gtA>gtG	p.V216V		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCCTGCTGTATTGAATCTCT	0.488000													42	155					0	0	0.870114	0	0
NELL2	4753	broad.mit.edu	37	12	45173781	45173781	+	Silent	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:45173781G>C	ENST00000429094.2	-	4	864	c.360C>G	c.(358-360)ggC>ggG	p.G120G	NELL2_ENST00000452445.2_Silent_p.G120G|NELL2_ENST00000333837.4_Silent_p.G143G|NELL2_ENST00000437801.2_Silent_p.G170G|NELL2_ENST00000549027.1_Silent_p.G119G|NELL2_ENST00000395487.2_Silent_p.G119G|NELL2_ENST00000551601.1_Silent_p.G119G|NELL2_ENST00000547172.1_5'UTR	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	120	TSP N-terminal.				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)		CATTCCGATGGCCACTACTTT	0.468000													29	154					0	0	0.760397	0	0
HNRNPA0	10949	broad.mit.edu	37	5	137089565	137089565	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:137089565G>C	ENST00000314940.4	-	1	474	c.191C>G	c.(190-192)gCc>gGc	p.A64G		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	64	RRM 1.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGCGGCCATGGCGGCGTCCGC	0.677000													7	43					0	0	0.278610	0	0
UBA1	7317	broad.mit.edu	37	X	47062073	47062073	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:47062073G>T	ENST00000335972.6	+	11	1276	c.1093G>T	c.(1093-1095)Gtg>Ttg	p.V365L	UBA1_ENST00000377351.4_Missense_Mutation_p.V365L	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	365	2 approximate repeats.				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGCACAGGCTGTGAATGCTCG	0.567000													12	18					9.16793e-09	1.28765e-08	0.520397	1	0
PPM1K	152926	broad.mit.edu	37	4	89192218	89192218	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:89192218C>A	ENST00000315194.4	-	4	1054	c.665G>T	c.(664-666)gGa>gTa	p.G222V	PPM1K_ENST00000513546.2_Intron|PPM1K_ENST00000506423.1_Missense_Mutation_p.G222V|PPM1K_ENST00000295908.6_Intron			Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	0	PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		TTCCCGTAGTCCAGGATAGGA	0.468000													6	50					0.000442599	0.000499293	0.335167	1	0
PASK	23178	broad.mit.edu	37	2	242075338	242075338	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:242075338C>A	ENST00000403638.3	-	8	1345	c.1254G>T	c.(1252-1254)ggG>ggT	p.G418G	PASK_ENST00000358649.4_Silent_p.G418G|PASK_ENST00000234040.4_Silent_p.G418G|PASK_ENST00000405260.1_Silent_p.G418G|PASK_ENST00000539818.1_Silent_p.G202G|PASK_ENST00000544142.1_Silent_p.G232G	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	418					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AGGTTCTCTCCCCACACCCAC	0.607000													33	183					6.70999e-13	1.08931e-12	0.796494	1	0
CNTN5	53942	broad.mit.edu	37	11	99872830	99872830	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:99872830A>T	ENST00000524871.1	+	9	1232	c.942A>T	c.(940-942)aaA>aaT	p.K314N	CNTN5_ENST00000418526.2_Missense_Mutation_p.K240N|CNTN5_ENST00000527185.1_Missense_Mutation_p.K314N|CNTN5_ENST00000528682.1_Missense_Mutation_p.K314N|CNTN5_ENST00000279463.3_Missense_Mutation_p.K314N	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	314	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CAGCTGCTAAAGGAACAACTG	0.333000													5	14					0	0	0.248553	0	0
KRTAP9-2	83899	broad.mit.edu	37	17	39382986	39382986	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:39382986C>A	ENST00000377721.3	+	1	87	c.80C>A	c.(79-81)aCc>aAc	p.T27N	KRTAP9-2_ENST00000455970.2_Missense_Mutation_p.T27N	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	27	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament	protein binding			large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGGAAGCCCACCACTGTGACC	0.642000													39	183					3.78316e-11	5.83249e-11	0.819951	1	0
NBAS	51594	broad.mit.edu	37	2	15651345	15651345	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:15651345C>A	ENST00000281513.5	-	10	901	c.876G>T	c.(874-876)ggG>ggT	p.G292G	NBAS_ENST00000441750.1_Silent_p.G292G	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	292										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTGCAGTAACCCCGTCTCCAC	0.418000													28	225					2.2171e-23	4.30009e-23	0.740014	1	0
ZNF701	55762	broad.mit.edu	37	19	53086529	53086529	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:53086529G>C	ENST00000540331.1	+	5	1640	c.1415G>C	c.(1414-1416)gGa>gCa	p.G472A	ZNF701_ENST00000301093.2_Missense_Mutation_p.G472A|ZNF701_ENST00000391785.3_Missense_Mutation_p.G406A|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		ATTCATACTGGAGAGAAACGT	0.373000													6	39					0	0	0.278610	0	0
POU4F2	5458	broad.mit.edu	37	4	147561806	147561806	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:147561806C>A	ENST00000281321.3	+	2	1324	c.1076C>A	c.(1075-1077)tCg>tAg	p.S359*		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	359					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GAGAAGCGCTCGCTCGAAGCC	0.607000													14	126					3.52763e-06	4.40043e-06	0.520397	1	0
GLP1R	2740	broad.mit.edu	37	6	39046125	39046125	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:39046125G>A	ENST00000373256.4	+	8	894	c.851G>A	c.(850-852)tGg>tAg	p.W284*		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	284					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	GTTGTCCCCTGGGGCATTGTC	0.597000													21	155					0	0	0.654019	0	0
AFG3L2	10939	broad.mit.edu	37	18	12371646	12371646	+	Silent	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:12371646A>G	ENST00000269143.3	-	2	390	c.159T>C	c.(157-159)tcT>tcC	p.S53S		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	53					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CTGTCAAAAGAGAATTTCTGC	0.358000													3	47					0	0	0.115264	0	0
C3orf30	152405	broad.mit.edu	37	3	118865674	118865674	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:118865674G>T	ENST00000295622.1	+	1	678	c.638G>T	c.(637-639)aGa>aTa	p.R213I		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	213										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		ATTACACACAGATTATCCAAA	0.502000													20	172					1.87028e-06	2.37783e-06	0.608945	1	0
C11orf63	79864	broad.mit.edu	37	11	122774931	122774931	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:122774931G>T	ENST00000227349.2	+	3	940	c.643G>T	c.(643-645)Gac>Tac	p.D215Y	C11orf63_ENST00000307257.6_Missense_Mutation_p.D215Y|C11orf63_ENST00000531316.1_Missense_Mutation_p.D215Y	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	215										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AGAGCTGAGCGACAGTGACCT	0.532000													3	91					0.115264	0.118498	0.115264	1	0
TRHR	7201	broad.mit.edu	37	8	110131276	110131276	+	Splice_Site	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:110131276G>T	ENST00000518632.1	+	3	1140		c.e3-1		TRHR_ENST00000311762.2_Splice_Site			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor							integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TTTCTCCCTAGGTCACCAAGA	0.423000													34	264					6.45866e-13	1.051e-12	0.840704	1	0
KCNH5	27133	broad.mit.edu	37	14	63416939	63416939	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:63416939C>G	ENST00000322893.7	-	7	1549	c.1281G>C	c.(1279-1281)atG>atC	p.M427I	KCNH5_ENST00000420622.2_Missense_Mutation_p.M427I|KCNH5_ENST00000394964.2_Missense_Mutation_p.M369I|KCNH5_ENST00000394968.1_Missense_Mutation_p.M369I	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	427					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TAAGGCTTGTCATGGTAAAGT	0.448000													4	102					0	0	0.150653	0	0
RBM33	155435	broad.mit.edu	37	7	155538085	155538085	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:155538085A>C	ENST00000401878.3	+	14	2966	c.2768A>C	c.(2767-2769)cAg>cCg	p.Q923P		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	923							nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CCTCAAAGTCAGACTCAGCCG	0.527000													6	35					0	0	0.248553	0	0
GABRA1	2554	broad.mit.edu	37	5	161300334	161300334	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:161300334A>T	ENST00000428797.2	+	6	822	c.467A>T	c.(466-468)tAc>tTc	p.Y156F	GABRA1_ENST00000437025.2_Missense_Mutation_p.Y156F|GABRA1_ENST00000023897.6_Missense_Mutation_p.Y156F|GABRA1_ENST00000420560.1_Missense_Mutation_p.Y156F|GABRA1_ENST00000393943.4_Missense_Mutation_p.Y156F|GABRA1_ENST00000444819.1_Missense_Mutation_p.Y156F	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	156					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	ACCTTGCTGTACACCATGAGG	0.493000													4	32					0	0	0.184627	0	0
SURF6	6838	broad.mit.edu	37	9	136200575	136200575	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:136200575C>T	ENST00000372022.4	-	3	637	c.372G>A	c.(370-372)aaG>aaA	p.K124K		NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	124						granular component	DNA binding|RNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		CCTCCTGGATCTTCTCATGCA	0.642000													11	49					0	0	0.435327	0	0
CIB4	130106	broad.mit.edu	37	2	26818154	26818154	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:26818154A>T	ENST00000288861.4	-	4	271	c.218T>A	c.(217-219)gTg>gAg	p.V73E	CIB4_ENST00000405346.3_5'UTR	NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	73	EF-hand 1.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGGGAGAACACTCTGCAGAT	0.567000													14	75					0	0	0.557998	0	0
SLC39A12	221074	broad.mit.edu	37	10	18292119	18292119	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:18292119A>T	ENST00000377369.2	+	12	2052	c.1779A>T	c.(1777-1779)ttA>ttT	p.L593F	SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12_ENST00000539911.1_Missense_Mutation_p.L459F|SLC39A12_ENST00000377371.3_Missense_Mutation_p.L592F|SLC39A12_ENST00000377374.4_Missense_Mutation_p.L556F	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	593					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CCGTGCTCTTAAGCTCTGGAC	0.393000													21	107					0	0	0.654019	0	0
LILRB1	10859	broad.mit.edu	37	19	55147028	55147028	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:55147028C>A	ENST00000396331.1	+	14	1975	c.1618C>A	c.(1618-1620)Cag>Aag	p.Q540K	LILRB1_ENST00000396321.2_Missense_Mutation_p.Q540K|LILRB1_ENST00000396332.4_Missense_Mutation_p.Q540K|LILRB1_ENST00000434867.2_Missense_Mutation_p.Q540K|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000324602.7_Missense_Mutation_p.Q541K|LILRB1_ENST00000418536.2_Missense_Mutation_p.Q524K|LILRB1_ENST00000396327.3_Missense_Mutation_p.Q541K|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_Missense_Mutation_p.Q590K|LILRB1_ENST00000396317.1_Missense_Mutation_p.Q524K|LILRB1_ENST00000396315.1_Missense_Mutation_p.Q541K	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	540					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GAAGCACACACAGCCTGAGGA	0.612000										HNSCC(37;0.09)			35	255					2.77807e-22	5.31277e-22	0.864702	1	0
LGR5	8549	broad.mit.edu	37	12	71946918	71946918	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:71946918G>A	ENST00000266674.5	+	5	805	c.494G>A	c.(493-495)aGg>aAg	p.R165K	LGR5_ENST00000536515.1_Intron|LGR5_ENST00000540815.2_Missense_Mutation_p.R165K			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	165						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CATTCCCTGAGGCACCTGTGG	0.493000													18	83					0	0	0.624587	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74649218	74649218	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:74649218A>T	ENST00000354431.4	-	2	342	c.151T>A	c.(151-153)Tct>Act	p.S51T	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.S51T|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.S51T|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.S51T	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	51										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						actctaagagagatgcaagac	0.303000													7	28					0	0	0.248553	0	0
NID2	22795	broad.mit.edu	37	14	52508997	52508997	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:52508997C>G	ENST00000216286.5	-	7	1650	c.1651G>C	c.(1651-1653)Gat>Cat	p.D551H	NID2_ENST00000541773.1_Missense_Mutation_p.D498H	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	551	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					AGGTCCACATCAGTGAAGTGC	0.587000													60	240					0	0	0.870114	0	0
PTDSS1	9791	broad.mit.edu	37	8	97316404	97316404	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:97316404T>C	ENST00000517309.1	+	7	1215	c.889T>C	c.(889-891)Tgg>Cgg	p.W297R	PTDSS1_ENST00000455950.2_Missense_Mutation_p.W151R|PTDSS1_ENST00000522072.1_Missense_Mutation_p.W94R	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	297					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CATGATCATCTGGCAGGTATT	0.373000													20	178					0	0	0.639603	0	0
CD1D	912	broad.mit.edu	37	1	158152898	158152898	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:158152898C>A	ENST00000368171.3	+	5	1337	c.838C>A	c.(838-840)Cgg>Agg	p.R280R		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	280	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CCTGTCCTGTCGGGTGAAGCA	0.612000													11	136					6.40141e-05	7.50611e-05	0.387290	1	0
SPATA31D1	389763	broad.mit.edu	37	9	84607511	84607511	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:84607511C>T	ENST00000344803.2	+	4	2173	c.2126C>T	c.(2125-2127)tCt>tTt	p.S709F		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		ATCCATGAGTCTCTGTCATTG	0.488000													12	38					0	0	0.387290	0	0
RIMS2	9699	broad.mit.edu	37	8	104928673	104928673	+	Silent	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:104928673A>T	ENST00000507740.1	+	6	1604	c.1368A>T	c.(1366-1368)ctA>ctT	p.L456L	RIMS2_ENST00000406091.3_Silent_p.L648L|RIMS2_ENST00000436393.2_Silent_p.L426L|RIMS2_ENST00000262231.10_Silent_p.L503L	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	726					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATGGAAGACTACTGCAAGGAG	0.363000										HNSCC(12;0.0054)			7	61					0	0	0.248553	0	0
MAST1	22983	broad.mit.edu	37	19	12951847	12951847	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:12951847C>A	ENST00000251472.4	+	3	254	c.215C>A	c.(214-216)aCc>aAc	p.T72N	MAST1_ENST00000591495.1_Missense_Mutation_p.T68N	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	72					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCCCCCAACACCCCCGCCCAC	0.647000													11	157					3.27435e-08	4.50938e-08	0.457914	1	0
AGAP7	653268	broad.mit.edu	37	10	51465353	51465353	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:51465353G>T	ENST00000374095.5	-	7	1228	c.1103C>A	c.(1102-1104)cCg>cAg	p.P368Q		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	368	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						AGAGGGGGGCGGGTTGAGCTT	0.507000													29	138					6.02846e-25	1.18832e-24	0.779181	1	0
UCHL3	7347	broad.mit.edu	37	13	76135013	76135013	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr13:76135013A>G	ENST00000377595.3	+	3	209	c.179A>G	c.(178-180)gAa>gGa	p.E60G	RP11-29G8.3_ENST00000563635.1_RNA	NM_001270952.1|NM_006002.3	NP_001257881.1|NP_005993.1	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)	60					ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		CCTATTACAGAAAAGGTAATT	0.368000													5	47					0	0	0.184627	0	0
FAT1	2195	broad.mit.edu	37	4	187524086	187524086	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:187524086C>G	ENST00000441802.2	-	20	11662	c.11453G>C	c.(11452-11454)tGt>tCt	p.C3818S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3818	EGF-like 1.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCCGCTGGGACAGACACAGGT	0.488000										HNSCC(5;0.00058)			25	75					0	0	0.729181	0	0
LRRC7	57554	broad.mit.edu	37	1	70502242	70502242	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:70502242G>T	ENST00000310961.5	+	21	2542	c.2124G>T	c.(2122-2124)cgG>cgT	p.R708R	LRRC7_ENST00000035383.5_Silent_p.R703R|LRRC7_ENST00000415775.2_Intron			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	703						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTAATACCCGGGTTAAAGTGG	0.458000													28	93					1.06801e-11	1.68193e-11	0.740014	1	0
FRMD6	122786	broad.mit.edu	37	14	52194490	52194490	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:52194490A>G	ENST00000395718.2	+	14	1873	c.1588A>G	c.(1588-1590)Act>Gct	p.T530A	FRMD6_ENST00000554167.1_Missense_Mutation_p.T461A|FRMD6_ENST00000344768.5_Missense_Mutation_p.T538A|FRMD6_ENST00000356218.4_Missense_Mutation_p.T530A|FRMD6_ENST00000553556.1_Missense_Mutation_p.T180A	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	538						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					AAAGACCTCCACTGATCGACA	0.438000													25	138					0	0	0.769981	0	0
NBPF1	55672	broad.mit.edu	37	1	16918510	16918510	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:16918510C>A	ENST00000430580.2	-	7	894	c.7G>T	c.(7-9)Gta>Tta	p.V3L		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	3						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CCAGCTGATACCACCATGCTG	0.488000													33	862					3.11337e-16	5.48382e-16	0.769981	1	0
CDH12	1010	broad.mit.edu	37	5	21755729	21755729	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:21755729G>T	ENST00000382254.1	-	14	2942	c.1856C>A	c.(1855-1857)gCa>gAa	p.A619E	CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.A579E|CDH12_ENST00000504376.2_Missense_Mutation_p.A619E	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	619					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TAGTAGAATTGCAATCAACGC	0.398000										HNSCC(59;0.17)			16	78					3.32936e-07	4.36819e-07	0.539581	1	0
ASH1L	55870	broad.mit.edu	37	1	155451509	155451509	+	Silent	SNP	G	G	C	rs141977067		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:155451509G>C	ENST00000368346.3	-	3	1791	c.1152C>G	c.(1150-1152)gcC>gcG	p.A384A	ASH1L_ENST00000548830.1_3'UTR|ASH1L_ENST00000392403.3_Silent_p.A384A			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	384					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.A384A(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CACAGTCCTTGGCCACTAGGC	0.423000													66	204					0	0	0.870114	0	0
NEB	4703	broad.mit.edu	37	2	152529000	152529000	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:152529000C>A	ENST00000397345.3	-	37	4384	c.4182G>T	c.(4180-4182)aaG>aaT	p.K1394N	NEB_ENST00000409198.1_Missense_Mutation_p.K1394N|NEB_ENST00000604864.1_Missense_Mutation_p.K1394N|NEB_ENST00000603639.1_Missense_Mutation_p.K1394N|NEB_ENST00000172853.10_Missense_Mutation_p.K1394N|NEB_ENST00000427231.2_Missense_Mutation_p.K1394N	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1394					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCTGGGCCATCTTTGCAGCTG	0.473000													6	76					0.0293803	0.0306811	0.248553	1	0
SEMA3E	9723	broad.mit.edu	37	7	83036449	83036449	+	Silent	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:83036449A>G	ENST00000307792.3	-	7	1244	c.777T>C	c.(775-777)gcT>gcC	p.A259A	SEMA3E_ENST00000427262.1_Silent_p.A199A	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	259	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AAATTGCGTGAGCATTGTTTT	0.403000													3	102					0	0	0.115264	0	0
COL14A1	7373	broad.mit.edu	37	8	121224770	121224770	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:121224770G>C	ENST00000297848.3	+	13	1821	c.1551G>C	c.(1549-1551)atG>atC	p.M517I	COL14A1_ENST00000537875.1_Missense_Mutation_p.M517I|COL14A1_ENST00000247781.3_Missense_Mutation_p.M422I|COL14A1_ENST00000309791.4_Missense_Mutation_p.M517I|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	517	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)			TTTATGCCATGTTTGGAGAAG	0.433000													13	90					0	0	0.520397	0	0
MYO16	23026	broad.mit.edu	37	13	109704654	109704654	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr13:109704654A>T	ENST00000356711.2	+	25	2939	c.2813A>T	c.(2812-2814)gAa>gTa	p.E938V	MYO16_ENST00000457511.2_Missense_Mutation_p.E450V|MYO16_ENST00000357550.2_Missense_Mutation_p.E938V	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	938	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)			CTAGCTAGTGAAAATGTCGTG	0.368000													13	68					0	0	0.520397	0	0
TMEM132D	121256	broad.mit.edu	37	12	129694154	129694154	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:129694154C>A	ENST00000422113.2	-	5	1680	c.1354G>T	c.(1354-1356)Gtg>Ttg	p.V452L	RP11-669N7.3_ENST00000542578.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	452						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACCACTTTCACCGGGACGGCC	0.562000													6	94					7.48243e-07	9.66873e-07	0.335167	1	0
TBCE	6905	broad.mit.edu	37	1	235590528	235590528	+	Silent	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:235590528C>G	ENST00000543662.1	+	6	640	c.534C>G	c.(532-534)ctC>ctG	p.L178L	TBCE_ENST00000406207.1_Silent_p.L178L|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000366601.3_Silent_p.L178L			Q15813	TBCE_HUMAN	tubulin folding cofactor E	178					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			CTGATCAGCTCAGACACCTGG	0.388000													8	71					0	0	0.361761	0	0
CYP26A1	1592	broad.mit.edu	37	10	94835010	94835010	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:94835010G>T	ENST00000371531.1	+	4	981	c.603G>T	c.(601-603)gcG>gcT	p.A201A	CYP26A1_ENST00000224356.4_Silent_p.A270A|CYP26A1_ENST00000394139.1_Silent_p.A201A	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	270					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				GCAAAGACGCGCTGCAGCTGT	0.642000													5	43					0.000602214	0.000674165	0.184627	1	0
CDH6	1004	broad.mit.edu	37	5	31299686	31299686	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:31299686C>A	ENST00000265071.2	+	5	1024	c.759C>A	c.(757-759)acC>acA	p.T253T	CDH6_ENST00000514738.1_Silent_p.T198T	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	253	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGACCACCACCGTGAACATCA	0.468000													28	166					3.67414e-24	7.18032e-24	0.760397	1	0
SPAG16	79582	broad.mit.edu	37	2	214727307	214727307	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:214727307G>T	ENST00000331683.5	+	11	1264	c.1169G>T	c.(1168-1170)gGa>gTa	p.G390V	SPAG16_ENST00000374309.3_Missense_Mutation_p.G296V	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	390					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CTTCTCACGGGATTTGGCCAC	0.522000													12	84					2.62699e-14	4.3933e-14	0.479597	1	0
BCAN	63827	broad.mit.edu	37	1	156616666	156616666	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:156616666C>A	ENST00000329117.4	+	3	501	c.165C>A	c.(163-165)atC>atA	p.I55I	BCAN_ENST00000361588.5_Silent_p.I55I|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	55	Ig-like V-type.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCCTCACCATCCCTTGCCACG	0.726000													4	24					0.184627	0.187367	0.184627	1	0
LRP12	29967	broad.mit.edu	37	8	105509551	105509551	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:105509551C>A	ENST00000276654.5	-	5	1337	c.1229G>T	c.(1228-1230)tGt>tTt	p.C410F	LRP12_ENST00000424843.2_Missense_Mutation_p.C391F	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	410	LDL-receptor class A 3.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCACATGGTACAATTGGTTTC	0.478000													11	94					2.27111e-07	3.01639e-07	0.411799	1	0
ZNF473	25888	broad.mit.edu	37	19	50547988	50547988	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:50547988G>T	ENST00000595661.1	+	6	783	c.288G>T	c.(286-288)caG>caT	p.Q96H	ZNF473_ENST00000445728.3_Missense_Mutation_p.Q84H|ZNF473_ENST00000270617.3_Missense_Mutation_p.Q96H|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.Q96H			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	96					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GATTCTCCCAGGAGATTATAG	0.458000													8	73					0.000978159	0.0010879	0.387290	1	0
TMEM130	222865	broad.mit.edu	37	7	98449162	98449162	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:98449162G>T	ENST00000450876.1	-	6	1951	c.636C>A	c.(634-636)agC>agA	p.S212R	TMEM130_ENST00000339375.4_Missense_Mutation_p.S296R|TMEM130_ENST00000546258.1_Missense_Mutation_p.S277R|TMEM130_ENST00000416379.2_Missense_Mutation_p.S296R|TMEM130_ENST00000345589.4_Missense_Mutation_p.S194R			Q8N3G9	TM130_HUMAN	transmembrane protein 130	296	PKD.					Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGTACGCTGTGCTGGCCACGG	0.602000													20	40					7.45023e-12	1.18327e-11	0.592651	1	0
CACNA1D	776	broad.mit.edu	37	3	53766914	53766914	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:53766914C>T	ENST00000288139.3	+	20	2724	c.2606C>T	c.(2605-2607)tCg>tTg	p.S869L	CACNA1D_ENST00000422281.2_Missense_Mutation_p.S849L|CACNA1D_ENST00000350061.5_Missense_Mutation_p.S849L	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	849					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CGAAGGATCTCGGAGTTGAAC	0.478000													14	34					0	0	0.557998	0	0
SYT16	83851	broad.mit.edu	37	14	62547956	62547956	+	Silent	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:62547956A>G	ENST00000430451.2	+	4	1595	c.1398A>G	c.(1396-1398)aaA>aaG	p.K466K		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	466										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GGGAAATGAAAGTGACTCTGG	0.498000													5	30					0	0	0.217242	0	0
LTBP1	4052	broad.mit.edu	37	2	33412028	33412028	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:33412028G>T	ENST00000404816.2	+	6	1660	c.1307G>T	c.(1306-1308)gGt>gTt	p.G436V	LTBP1_ENST00000354476.3_Missense_Mutation_p.G436V|LTBP1_ENST00000418533.2_Missense_Mutation_p.G110V|LTBP1_ENST00000390003.4_Missense_Mutation_p.G110V|LTBP1_ENST00000402934.1_Missense_Mutation_p.G110V|LTBP1_ENST00000404525.1_Missense_Mutation_p.G110V|LTBP1_ENST00000407925.1_Missense_Mutation_p.G110V			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	436					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CCAGTCCATGGTGCCAGCGTG	0.507000													10	67					3.86212e-05	4.5625e-05	0.361761	1	0
USH2A	7399	broad.mit.edu	37	1	216363595	216363595	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:216363595C>G	ENST00000366943.2	-	20	4752	c.4366G>C	c.(4366-4368)Gct>Cct	p.A1456P	USH2A_ENST00000307340.3_Missense_Mutation_p.A1456P|USH2A_ENST00000366942.3_Missense_Mutation_p.A1456P			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1456	Fibronectin type-III 4.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTCCCGAAGCACTGGTCACA	0.358000										HNSCC(13;0.011)			31	63					0	0	0.840704	0	0
NKAPL	222698	broad.mit.edu	37	6	28227362	28227362	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:28227362G>A	ENST00000343684.3	+	1	265	c.213G>A	c.(211-213)tcG>tcA	p.S71S		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	71										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GCTCTGGGTCGCGAGGGCGGC	0.607000													4	82					0	0	0.184627	0	0
ZNF502	91392	broad.mit.edu	37	3	44763337	44763337	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:44763337G>T	ENST00000296091.4	+	4	1284	c.1028G>T	c.(1027-1029)aGa>aTa	p.R343I	ZNF502_ENST00000449836.1_Missense_Mutation_p.R343I|ZNF502_ENST00000436624.2_Missense_Mutation_p.R343I	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CAGCATCAGAGAATTCATAGT	0.408000													8	34					0.00829132	0.00887059	0.361761	1	0
SATL1	340562	broad.mit.edu	37	X	84363344	84363344	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:84363344G>T	ENST00000509231.1	-	1	710	c.631C>A	c.(631-633)Cca>Aca	p.P211T	SATL1_ENST00000332921.5_Missense_Mutation_p.P24T|SATL1_ENST00000395409.3_Missense_Mutation_p.P24T			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	24	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTCATGTCTGGGTGGCTTGGG	0.547000													37	46					9.73076e-26	1.93296e-25	0.827153	1	0
GJC1	10052	broad.mit.edu	37	17	42882322	42882322	+	Silent	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:42882322A>T	ENST00000426548.1	-	3	1133	c.864T>A	c.(862-864)ccT>ccA	p.P288P	GJC1_ENST00000590758.1_Silent_p.P288P|GJC1_ENST00000330514.4_Silent_p.P288P|GJC1_ENST00000592524.1_Silent_p.P288P	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	288					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TGTTATAGCCAGGGGGAGCAG	0.463000													37	204					0	0	0.853193	0	0
ZXDC	79364	broad.mit.edu	37	3	126180471	126180471	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:126180471G>T	ENST00000389709.3	-	6	2087	c.2034C>A	c.(2032-2034)agC>agA	p.S678R	ZXDC_ENST00000336332.5_Missense_Mutation_p.S678R	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	678	Required for transcriptional activation.				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)		GCAGCCCATGGCTTCCTTCCT	0.612000													3	66					0.000602214	0.000674165	0.184627	1	0
PLEKHG5	57449	broad.mit.edu	37	1	6537604	6537604	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:6537604C>A	ENST00000377748.1	-	3	756	c.259G>T	c.(259-261)Gac>Tac	p.D87Y	PLEKHG5_ENST00000535355.1_Missense_Mutation_p.D79Y|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.D10Y|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.D10Y|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.D47Y|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.D10Y|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.D87Y|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.D10Y|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.D10Y|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.D89Y|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.D66Y|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.D10Y	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	66					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GGGGGAAGGTCGAAGCGGACA	0.627000													37	137					1.15183e-24	2.26395e-24	0.847076	1	0
HECTD4	283450	broad.mit.edu	37	12	112711489	112711489	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:112711489C>A	ENST00000550722.1	-	11	1875	c.1480G>T	c.(1480-1482)Gga>Tga	p.G494*	HECTD4_ENST00000377560.5_Nonsense_Mutation_p.G456*|HECTD4_ENST00000430131.2_Nonsense_Mutation_p.G206*	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TGACTGACTCCAAGTCTCTGG	0.443000													30	163					1.90571e-15	3.28339e-15	0.796494	1	0
SLC17A6	57084	broad.mit.edu	37	11	22380974	22380974	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:22380974C>A	ENST00000263160.3	+	4	911	c.474C>A	c.(472-474)gcC>gcA	p.A158A		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	158					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TCGGAGCTGCCATACTTCTTA	0.378000													8	39					1.12685e-05	1.37719e-05	0.307466	1	0
DPRX	503834	broad.mit.edu	37	19	54140236	54140236	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:54140236G>A	ENST00000376650.1	+	3	621	c.570G>A	c.(568-570)gaG>gaA	p.E190E		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	190						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		AAAGTCGAGAGAGATGATAAA	0.443000													15	201					0	0	0.539581	0	0
OR8K1	390157	broad.mit.edu	37	11	56113928	56113928	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:56113928C>T	ENST00000279783.2	+	1	508	c.414C>T	c.(412-414)taC>taT	p.Y138Y		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					CTCTTCTGTACGTGATCATCA	0.393000										HNSCC(65;0.19)			28	197					0	0	0.706142	0	0
HIP1	3092	broad.mit.edu	37	7	75185396	75185396	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:75185396C>A	ENST00000336926.6	-	18	1787	c.1761G>T	c.(1759-1761)agG>agT	p.R587S	HIP1_ENST00000434438.2_Missense_Mutation_p.R587S	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	587					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ATTCCTCCTCCCTATGAGCTG	0.567000			T	PDGFRB	CMML								84	323					1.69331e-39	3.52402e-39	0.870114	1	0
SERPINA12	145264	broad.mit.edu	37	14	94962979	94962979	+	Splice_Site	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:94962979G>T	ENST00000341228.2	-	4	1431	c.634_splice	c.e4-1	p.A212_splice	SERPINA12_ENST00000556881.1_Splice_Site_p.A212_splice	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	212					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GTTTCCACCTGGCTTAGATTG	0.413000													10	54					4.68919e-08	6.42767e-08	0.361761	1	0
TTYH2	94015	broad.mit.edu	37	17	72233506	72233506	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:72233506C>T	ENST00000269346.4	+	4	562	c.488C>T	c.(487-489)gCc>gTc	p.A163V	TTYH2_ENST00000529107.1_Missense_Mutation_p.A142V	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	163						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						ATCTTTGCTGCCCGGGGCGAT	0.592000													34	131					0	0	0.827153	0	0
PTPN22	26191	broad.mit.edu	37	1	114401667	114401667	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:114401667G>T	ENST00000359785.5	-	3	365	c.230C>A	c.(229-231)aCc>aAc	p.T77N	AP4B1-AS1_ENST00000419536.1_RNA|PTPN22_ENST00000420377.2_Missense_Mutation_p.T77N|PTPN22_ENST00000538253.1_5'UTR|PTPN22_ENST00000534519.1_5'UTR|PTPN22_ENST00000528414.1_Missense_Mutation_p.T77N|PTPN22_ENST00000460620.1_Missense_Mutation_p.T77N|PTPN22_ENST00000525799.1_Missense_Mutation_p.T77N	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	77	Tyrosine-protein phosphatase.				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCATCAGAGGTTATCAGGGA	0.373000													14	45					5.03518e-11	7.71635e-11	0.557998	1	0
ARHGAP12	94134	broad.mit.edu	37	10	32197422	32197422	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:32197422G>A	ENST00000375250.5	-	3	603	c.362C>T	c.(361-363)tCa>tTa	p.S121L	ARHGAP12_ENST00000311380.4_Missense_Mutation_p.S121L|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.S121L|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.S121L|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.S121L	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	121					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				TTGAACAGATGACGATGGCTT	0.418000													10	81					0	0	0.435327	0	0
PSKH2	85481	broad.mit.edu	37	8	87076730	87076730	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:87076730C>T	ENST00000276616.2	-	2	390	c.316G>A	c.(316-318)Gtg>Atg	p.V106M	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	106	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			AGCTCAGACACGCACGCTTCT	0.493000													14	115					0	0	0.639603	0	0
ZNF143	7702	broad.mit.edu	37	11	9500008	9500008	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:9500008G>T	ENST00000396602.2	+	6	564	c.445G>T	c.(445-447)Gtg>Ttg	p.V149L	ZNF143_ENST00000396604.1_Missense_Mutation_p.V148L|ZNF143_ENST00000396597.3_Missense_Mutation_p.V118L|ZNF143_ENST00000299606.2_Missense_Mutation_p.V121L|ZNF143_ENST00000530463.1_Missense_Mutation_p.V148L	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	149					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		CCACCATGCAGTGCAAGTCCC	0.502000													29	155					1.45844e-13	2.41153e-13	0.769981	1	0
BNC2	54796	broad.mit.edu	37	9	16436330	16436330	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:16436330T>A	ENST00000380672.4	-	6	1919	c.1862A>T	c.(1861-1863)cAt>cTt	p.H621L	BNC2_ENST00000380666.2_Missense_Mutation_p.H621L|BNC2_ENST00000545497.1_Missense_Mutation_p.H526L|BNC2_ENST00000380667.2_Missense_Mutation_p.H554L	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		ACTGGGCTCATGGGTGGCCAT	0.542000													15	90					0	0	0.520397	0	0
IRX4	50805	broad.mit.edu	37	5	1879808	1879808	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:1879808G>A	ENST00000505790.1	-	5	1002	c.546C>T	c.(544-546)acC>acT	p.T182T	IRX4_ENST00000513692.1_Silent_p.T182T|IRX4_ENST00000231357.2_Silent_p.T182T|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	182					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GGGTCATCTTGGTGATGATGG	0.637000													27	270					0	0	0.750413	0	0
CERS3	204219	broad.mit.edu	37	15	101020250	101020250	+	Splice_Site	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:101020250A>T	ENST00000284382.4	-	7	832	c.407_splice	c.e7-1	p.W137_splice	CERS3_ENST00000394113.1_Splice_Site_p.W137_splice|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000538112.2_Splice_Site_p.W137_splice	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN	ceramide synthase 3	137	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GCAAATCTCCAGCTGCCAAAA	0.318000													5	43					0	0	0.217242	0	0
NEGR1	257194	broad.mit.edu	37	1	72163766	72163766	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:72163766C>A	ENST00000357731.4	-	4	831	c.592G>T	c.(592-594)Gct>Tct	p.A198S	NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Intron|NEGR1_ENST00000306821.3_Missense_Mutation_p.A70S	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	198	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TATTCCCCAGCCTGGTCCCTT	0.383000													19	48					2.98393e-07	3.95034e-07	0.639603	1	0
SLC13A3	64849	broad.mit.edu	37	20	45194997	45194997	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:45194997C>T	ENST00000279027.4	-	11	1383	c.1365G>A	c.(1363-1365)caG>caA	p.Q455Q	SLC13A3_ENST00000495082.1_Silent_p.Q408Q|SLC13A3_ENST00000413164.2_Silent_p.Q405Q|SLC13A3_ENST00000435032.1_Silent_p.Q40Q|SLC13A3_ENST00000396360.1_Silent_p.Q373Q|SLC13A3_ENST00000290317.5_Silent_p.Q408Q|SLC13A3_ENST00000472148.1_Silent_p.Q373Q	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	455						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GGGGGTGCAGCTGCCCACCAA	0.617000													51	189					0	0	0.870114	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914991	94914991	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:94914991A>T	ENST00000334708.3	-	2	185	c.121T>A	c.(121-123)Tca>Aca	p.S41T	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	41					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GCTGGCTCTGAGAGCTGATGC	0.562000													36	205					0	0	0.847076	0	0
ZNF592	9640	broad.mit.edu	37	15	85345442	85345442	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:85345442G>C	ENST00000299927.3	+	8	3644	c.3622G>C	c.(3622-3624)Gag>Cag	p.E1208Q	ZNF592_ENST00000560079.2_Missense_Mutation_p.E1208Q			Q92610	ZN592_HUMAN	zinc finger protein 592	1208					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTCCGGGGAGGAGGTGCCCAT	0.637000													11	19					0	0	0.457914	0	0
LCE5A	254910	broad.mit.edu	37	1	152484300	152484300	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:152484300G>T	ENST00000334269.2	+	2	466	c.290G>T	c.(289-291)gGg>gTg	p.G97V		NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	97	Cys-rich.				keratinization					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCAGTCTGGGGGCTCCAGC	0.682000													6	37					0.0293803	0.0306811	0.248553	1	0
ERCC6	2074	broad.mit.edu	37	10	50678798	50678798	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:50678798C>T	ENST00000355832.5	-	18	3286	c.3208G>A	c.(3208-3210)Gaa>Aaa	p.E1070K	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.E440K	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1070					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GATTTCTCTTCAGATGATGTG	0.398000								Direct reversal of damage;Nucleotide excision repair (NER)					17	127					0	0	0.575678	0	0
TEP1	7011	broad.mit.edu	37	14	20856104	20856104	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:20856104C>A	ENST00000262715.5	-	18	2684	c.2644G>T	c.(2644-2646)Gag>Tag	p.E882*	TEP1_ENST00000556935.1_Nonsense_Mutation_p.E774*	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	882					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGAGTGTCCTCTTCCAGTGGC	0.537000													14	91					8.34094e-07	1.07308e-06	0.575678	1	0
HGFAC	3083	broad.mit.edu	37	4	3443797	3443797	+	Silent	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:3443797C>G	ENST00000382774.3	+	1	184	c.69C>G	c.(67-69)ctC>ctG	p.L23L	HGFAC_ENST00000511533.1_Silent_p.L23L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	23					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCTCCTCCTCCTGCTGCTGC	0.716000													3	42					0	0	0.150653	0	0
ZNF574	64763	broad.mit.edu	37	19	42584948	42584948	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:42584948G>T	ENST00000600245.1	+	2	2845	c.2190G>T	c.(2188-2190)gcG>gcT	p.A730A	ZNF574_ENST00000359044.4_Silent_p.A730A|ZNF574_ENST00000222339.7_Silent_p.A820A			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	730	Ala-rich.				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)				CATCCCCTGCGGCCCCTGCCC	0.667000													33	151					1.836e-18	3.36082e-18	0.788014	1	0
KIAA1109	84162	broad.mit.edu	37	4	123175998	123175998	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:123175998G>T	ENST00000264501.4	+	39	6486	c.6113G>T	c.(6112-6114)gGt>gTt	p.G2038V	KIAA1109_ENST00000388738.3_Missense_Mutation_p.G2038V|KIAA1109_ENST00000455637.1_Missense_Mutation_p.G2038V			Q2LD37	K1109_HUMAN	KIAA1109	2038					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CCAGCTGTTGGTGCATGGCTT	0.358000													3	15					0.004672	0.00502988	0.115264	1	0
KIF13B	23303	broad.mit.edu	37	8	28956656	28956656	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:28956656C>G	ENST00000524189.1	-	36	4356	c.4318G>C	c.(4318-4320)Gat>Cat	p.D1440H	KIF13B_ENST00000404075.3_5'UTR	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1440					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TTACCTGGATCTGGAGAATGG	0.453000													50	151					0	0	0.870114	0	0
SFMBT2	57713	broad.mit.edu	37	10	7423855	7423855	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:7423855C>T	ENST00000361972.4	-	2	96	c.6G>A	c.(4-6)gaG>gaA	p.E2E	SFMBT2_ENST00000397160.3_Silent_p.E2E|SFMBT2_ENST00000397167.1_Silent_p.E2E|SFMBT2_ENST00000379713.3_Silent_p.E2E|SFMBT2_ENST00000379711.2_Silent_p.E2E	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	2					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						ACAAAGTGCTCTCCATGCCTG	0.398000													3	50					0	0	0.184627	0	0
RIPK2	8767	broad.mit.edu	37	8	90798839	90798839	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:90798839C>A	ENST00000220751.4	+	9	1362	c.1048C>A	c.(1048-1050)Cag>Aag	p.Q350K	RIPK2_ENST00000540020.1_Missense_Mutation_p.Q213K	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	350					activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TGGATCCTCTCAGCTCCATGA	0.323000													13	79					2.23348e-06	2.81691e-06	0.500413	1	0
KIAA1755	85449	broad.mit.edu	37	20	36869962	36869962	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:36869962G>T	ENST00000279024.4	-	3	842	c.571C>A	c.(571-573)Ccc>Acc	p.P191T		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	191										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				ACTACTTGGGGTCTGTCATCC	0.552000													17	138					6.44725e-10	9.45658e-10	0.624587	1	0
DHX15	1665	broad.mit.edu	37	4	24542524	24542524	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:24542524C>A	ENST00000336812.4	-	9	1689	c.1533G>T	c.(1531-1533)gtG>gtT	p.V511V		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	511	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				TCAATTGTAACACAACTGATC	0.318000													15	54					2.52088e-20	4.72837e-20	0.639603	1	0
ATP6V1B2	526	broad.mit.edu	37	8	20067930	20067930	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:20067930C>T	ENST00000276390.2	+	4	405	c.365C>T	c.(364-366)cCg>cTg	p.P122L		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	122					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		CTCCGAACACCGGTGTCTGAG	0.343000													4	88					0	0	0.184627	0	0
SLIT3	6586	broad.mit.edu	37	5	168189657	168189657	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:168189657G>A	ENST00000519560.1	-	15	1916	c.1497C>T	c.(1495-1497)tgC>tgT	p.C499C	SLIT3_ENST00000332966.8_Silent_p.C499C|SLIT3_ENST00000404867.3_Silent_p.C499C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	499	LRRNT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTCCATGAAGCACTCGCTGC	0.622000													21	253					0	0	0.729181	0	0
PCDH17	27253	broad.mit.edu	37	13	58207236	58207236	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr13:58207236C>T	ENST00000377918.3	+	1	582	c.556C>T	c.(556-558)Cgc>Tgc	p.R186C		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	186	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGTTAAGTCCCGCGGCGACGG	0.637000													9	19					0	0	0.307466	0	0
SZT2	23334	broad.mit.edu	37	1	43898108	43898108	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:43898108G>T	ENST00000562955.1	+	36	5269	c.5269G>T	c.(5269-5271)Gag>Tag	p.E1757*	SZT2_ENST00000372442.1_Nonsense_Mutation_p.E915*	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1814						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CATCGAAGGGGAGGTGAGTCT	0.622000													16	148					5.3912e-06	6.67235e-06	0.539581	1	0
PCMTD1	115294	broad.mit.edu	37	8	52773423	52773423	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:52773423T>C	ENST00000360540.5	-	3	695	c.289A>G	c.(289-291)Atg>Gtg	p.M97V	PCMTD1_ENST00000521344.1_Missense_Mutation_p.M97V|PCMTD1_ENST00000544451.1_Intron|PCMTD1_ENST00000522514.1_Missense_Mutation_p.M97V|PCMTD1_ENST00000519559.1_Intron	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	97						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				AAGCCCACCATTGTACTTAAA	0.303000													8	44					0	0	0.335167	0	0
MLLT4	4301	broad.mit.edu	37	6	168352761	168352761	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:168352761G>A	ENST00000366806.2	+	30	4848	c.4706G>A	c.(4705-4707)aGa>aAa	p.R1569K	MLLT4_ENST00000351017.4_Missense_Mutation_p.R1576K|MLLT4_ENST00000400822.3_Missense_Mutation_p.R1568K|MLLT4_ENST00000392112.1_Missense_Mutation_p.R1552K|MLLT4_ENST00000344191.4_Missense_Mutation_p.R1569K|MLLT4_ENST00000392108.3_Missense_Mutation_p.R1569K|MLLT4_ENST00000447894.2_Missense_Mutation_p.R1569K			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1569					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTCCAGAAGAGACTCCaggag	0.597000			T	MLL	AL								4	19					0	0	0.150653	0	0
CTSC	1075	broad.mit.edu	37	11	88042449	88042449	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:88042449C>A	ENST00000227266.5	-	4	637	c.523G>T	c.(523-525)Gtg>Ttg	p.V175L		NM_001814.4	NP_001805.3	P53634	CATC_HUMAN	cathepsin C	175					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATAGCTTTCACAAAGTTGTGA	0.363000													13	75					6.72482e-11	1.02293e-10	0.479597	1	0
PRKX	5613	broad.mit.edu	37	X	3544474	3544474	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:3544474C>A	ENST00000262848.5	-	5	1155	c.801G>T	c.(799-801)ttG>ttT	p.L267F	PRKX_ENST00000425240.1_5'UTR	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	267	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				CATGGAAATCCAAATGTCTGG	0.378000													7	14					3.09899e-07	4.08421e-07	0.307466	1	0
CACNA1H	8912	broad.mit.edu	37	16	1250546	1250546	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:1250546G>T	ENST00000348261.5	+	7	1342	c.1094G>T	c.(1093-1095)gGc>gTc	p.G365V	CACNA1H_ENST00000358590.4_Missense_Mutation_p.G365V|CACNA1H_ENST00000565831.1_Missense_Mutation_p.G365V	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	365					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GACAACATCGGCTACGCCTGG	0.652000													24	55					1.30897e-18	2.40682e-18	0.740014	1	0
EFCAB3	146779	broad.mit.edu	37	17	60483851	60483851	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:60483851A>T	ENST00000450662.2	+	9	726	c.655A>T	c.(655-657)Aga>Tga	p.R219*	EFCAB3_ENST00000305286.3_Nonsense_Mutation_p.R167*	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	167							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			CTATTTCCAAAGAAAATTCCA	0.373000													3	29					0	0	0.115264	0	0
UNC5D	137970	broad.mit.edu	37	8	35544206	35544206	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:35544206A>T	ENST00000287272.2	+	6	915	c.895A>T	c.(895-897)Aca>Tca	p.T299S	UNC5D_ENST00000404895.2_Missense_Mutation_p.T355S|UNC5D_ENST00000453357.2_Missense_Mutation_p.T350S|UNC5D_ENST00000420357.1_Missense_Mutation_p.T299S|UNC5D_ENST00000416672.1_Missense_Mutation_p.T355S			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	355	TSP type-1 1.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		tgaaaactgcacagatggtct	0.443000													5	10					0	0	0.184627	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28307026	28307026	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr21:28307026G>T	ENST00000284987.5	-	4	1569	c.1448C>A	c.(1447-1449)cCc>cAc	p.P483H	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	483					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GAGTTCTTCGGGGCCCAGGAT	0.532000													8	56					3.86212e-05	4.5625e-05	0.361761	1	0
DIO3	1735	broad.mit.edu	37	14	102028105	102028105	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:102028105A>G	ENST00000359323.3	+	1	418	c.194A>G	c.(193-195)gAg>gGg	p.E65G	DIO3_ENST00000510508.4_Missense_Mutation_p.E91G	NM_001362.3	NP_001353.4	P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	65					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				AGTGAAGGCGAGGAGGTGCCT	0.642000													4	103					0	0	0.150653	0	0
KMO	8564	broad.mit.edu	37	1	241729874	241729874	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:241729874C>T	ENST00000366559.4	+	9	1082	c.771C>T	c.(769-771)ttC>ttT	p.F257F	KMO_ENST00000366558.3_Silent_p.F257F|KMO_ENST00000366557.4_Silent_p.F257F	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	257					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			TAGATTTCTTCCAGAAATACT	0.353000													20	77					0	0	0.592651	0	0
APOB	338	broad.mit.edu	37	2	21229982	21229982	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:21229982A>G	ENST00000233242.1	-	26	9885	c.9758T>C	c.(9757-9759)gTt>gCt	p.V3253A		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3253					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GACAACTGGAACAGTGTATCC	0.413000													13	44					0	0	0.520397	0	0
BAIAP3	8938	broad.mit.edu	37	16	1394526	1394526	+	Splice_Site	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:1394526G>T	ENST00000324385.5	+	18	1922	c.1764_splice	c.e18+1	p.Q588_splice	BAIAP3_ENST00000421665.2_Splice_Site_p.Q517_splice|BAIAP3_ENST00000426824.3_Splice_Site_p.Q553_splice|BAIAP3_ENST00000562208.1_Splice_Site_p.Q530_splice|BAIAP3_ENST00000397489.1_Splice_Site_p.Q570_splice|BAIAP3_ENST00000397488.2_Splice_Site_p.Q570_splice|BAIAP3_ENST00000568887.1_Splice_Site_p.Q525_splice	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	588					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CCCGAGAGCAGGTGCAGTTGT	0.617000													31	104					1.03484e-13	1.71249e-13	0.812448	1	0
PSME4	23198	broad.mit.edu	37	2	54176329	54176329	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:54176329C>T	ENST00000404125.1	-	2	389	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	112					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATGCTGATTTCCAGTTTTGGA	0.353000													11	74					0	0	0.457914	0	0
HOXD3	3232	broad.mit.edu	37	2	177016754	177016754	+	Translation_Start_Site	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:177016754C>A	ENST00000468418.3	+	0	1633				HOXD4_ENST00000306324.3_Silent_p.A131A			P31249	HXD3_HUMAN	homeobox D3						anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		AGCAGCCGGCCGTGGTCTACC	0.677000													7	36					7.48243e-07	9.66873e-07	0.335167	1	0
TM4SF19	116211	broad.mit.edu	37	3	196054342	196054342	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:196054342G>T	ENST00000446879.1	-	2	245	c.120C>A	c.(118-120)aaC>aaA	p.N40K	TM4SF19_ENST00000273695.3_Missense_Mutation_p.N40K|TM4SF19_ENST00000454715.1_Missense_Mutation_p.N40K			Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	40						integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TGACATCCCAGTTAGGAAGGA	0.627000													30	173					5.71845e-15	9.72184e-15	0.812448	1	0
SNTG1	54212	broad.mit.edu	37	8	51314891	51314891	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:51314891C>A	ENST00000522124.1	+	4	810	c.149C>A	c.(148-150)cCt>cAt	p.P50H	SNTG1_ENST00000517473.1_Missense_Mutation_p.P50H|SNTG1_ENST00000276467.5_Missense_Mutation_p.P50H|SNTG1_ENST00000518864.1_Missense_Mutation_p.P50H	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	50					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TCTGGTGAGCCTTTCTATTCT	0.373000													12	127					7.93312e-07	1.02125e-06	0.457914	1	0
TBKBP1	9755	broad.mit.edu	37	17	45787862	45787862	+	Splice_Site	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:45787862A>T	ENST00000361722.3	+	9	2568		c.e9-1			NM_014726.2	NP_055541.1	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1						innate immune response					endometrium(5)|kidney(1)|lung(1)	7						CTCTCTCGACAGTTGCTGATG	0.632000													7	63					0	0	0.335167	0	0
STRADB	55437	broad.mit.edu	37	2	202337697	202337697	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:202337697G>C	ENST00000194530.3	+	5	578	c.213G>C	c.(211-213)ttG>ttC	p.L71F	STRADB_ENST00000392249.2_Missense_Mutation_p.L71F	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	71	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						TTGACAACTTGACTTCTGTCC	0.353000													12	106					0	0	0.539581	0	0
GHR	2690	broad.mit.edu	37	5	42719334	42719334	+	Silent	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:42719334T>A	ENST00000230882.4	+	10	1915	c.1725T>A	c.(1723-1725)gcT>gcA	p.A575A	GHR_ENST00000357703.3_Silent_p.A553A|GHR_ENST00000537449.1_Silent_p.A388A	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	575					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTACCACTGCTGCTGGGAGGC	0.502000													4	34					0	0	0.217242	0	0
CCDC136	64753	broad.mit.edu	37	7	128446838	128446838	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:128446838G>T	ENST00000297788.4	+	9	1712	c.1345G>T	c.(1345-1347)Gag>Tag	p.E449*	CCDC136_ENST00000487361.1_Nonsense_Mutation_p.E396*|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	449						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GCTGCAGGAGGAGCTGCAGTG	0.567000													10	30					1.58986e-06	2.02508e-06	0.361761	1	0
FLG	2312	broad.mit.edu	37	1	152285526	152285526	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:152285526C>T	ENST00000368799.1	-	3	1871	c.1836G>A	c.(1834-1836)agG>agA	p.R612R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	612	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTACTTGTCCTGGGCCCCG	0.567000									Ichthyosis				64	341					0	0	0.870114	0	0
COL27A1	85301	broad.mit.edu	37	9	116930158	116930158	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:116930158G>T	ENST00000356083.3	+	3	714	c.323G>T	c.(322-324)cGg>cTg	p.R108L		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	108	Laminin G-like.|TSP N-terminal.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGCTCCCACCGGGTGAACCAT	0.667000													27	156					7.01153e-11	1.0626e-10	0.717897	1	0
PALM2	114299	broad.mit.edu	37	9	112705441	112705441	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:112705441G>T	ENST00000448454.2	+	8	978	c.978G>T	c.(976-978)gaG>gaT	p.E326D	AKAP2_ENST00000555236.1_Intron|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2_ENST00000374531.2_Missense_Mutation_p.E292D|PALM2_ENST00000314527.4_Missense_Mutation_p.E324D|PALM2-AKAP2_ENST00000374530.3_Intron|AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000483909.1_Missense_Mutation_p.E290D					paralemmin 2											breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						AGGATGAAGAGGAGACGAAAA	0.512000													10	71					0.00829132	0.00887059	0.361761	1	0
TAAR2	9287	broad.mit.edu	37	6	132945412	132945412	+	Translation_Start_Site	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:132945412C>A	ENST00000367931.1	-	1	2	c.3G>T	c.(1-3)atG>atT	p.M1I	TAAR2_ENST00000537809.1_5'UTR			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	1						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		ATGAGACAGCCATGGGAGGCA	0.398000													9	36					1.33987e-11	2.10361e-11	0.361761	1	0
TRPV4	59341	broad.mit.edu	37	12	110252250	110252250	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:110252250T>A	ENST00000418703.2	-	1	446	c.352A>T	c.(352-354)Agt>Tgt	p.S118C	TRPV4_ENST00000537083.1_Missense_Mutation_p.S118C|TRPV4_ENST00000536838.1_Missense_Mutation_p.S84C|TRPV4_ENST00000392719.2_Missense_Mutation_p.S118C|TRPV4_ENST00000261740.2_Missense_Mutation_p.S118C|TRPV4_ENST00000544971.1_Missense_Mutation_p.S118C|TRPV4_ENST00000541794.1_Missense_Mutation_p.S118C|TRPV4_ENST00000346520.2_Missense_Mutation_p.S118C	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	118					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TTGTTGTCACTGGAGTGGTGA	0.517000													5	40					0	0	0.278610	0	0
XIRP2	129446	broad.mit.edu	37	2	168114816	168114816	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:168114816C>G	ENST00000409728.1	+	11	1948	c.1859C>G	c.(1858-1860)cCa>cGa	p.P620R	XIRP2_ENST00000409605.1_Missense_Mutation_p.P365R|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.P587R|XIRP2_ENST00000420519.1_Missense_Mutation_p.P620R|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.P587R	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2702					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						GTTAGAACTCCAGAAAATAAA	0.388000													11	79					0	0	0.457914	0	0
RBM12B	389677	broad.mit.edu	37	8	94748439	94748439	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:94748439G>A	ENST00000399300.2	-	3	413	c.200C>T	c.(199-201)tCa>tTa	p.S67L	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.S67L	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	67							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CTCTACAGATGAATCCTTGAT	0.423000													19	118					0	0	0.575678	0	0
FER1L6	654463	broad.mit.edu	37	8	125113575	125113575	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:125113575C>A	ENST00000522917.1	+	38	5327	c.5121C>A	c.(5119-5121)ttC>ttA	p.F1707L	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.F1707L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1707	C2 6.					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)			CAGATGACTTCCTGGGTAAGC	0.423000													5	69					0.0215528	0.0226801	0.217242	1	0
SDK1	221935	broad.mit.edu	37	7	4153753	4153753	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:4153753G>T	ENST00000404826.2	+	25	3809	c.3670G>T	c.(3670-3672)Gca>Tca	p.A1224S	SDK1_ENST00000389531.3_Missense_Mutation_p.A1224S	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1224	Fibronectin type-III 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCAGTCCTCAGCAGTGGCCCA	0.587000													13	110					1.5739e-10	2.35912e-10	0.500413	1	0
RUSC2	9853	broad.mit.edu	37	9	35547328	35547328	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:35547328C>A	ENST00000455600.1	+	2	1379	c.810C>A	c.(808-810)agC>agA	p.S270R		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	270						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GCTATGTGAGCGACTCCTCCT	0.597000													10	63					0.000442599	0.000499293	0.335167	1	0
LCK	3932	broad.mit.edu	37	1	32745230	32745230	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:32745230C>T	ENST00000333070.4	+	10	1113	c.1013C>T	c.(1012-1014)cCc>cTc	p.P338L	LCK_ENST00000336890.5_Intron|LCK_ENST00000373564.3_Intron	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	321	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)	GGGGCCTCCCCCTGGGGCAAC	0.512000			T	TRB@	T-ALL								38	168					0	0	0.819951	0	0
MYBPC1	4604	broad.mit.edu	37	12	102061562	102061562	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:102061562C>A	ENST00000549145.1	+	23	2527	c.2427C>A	c.(2425-2427)acC>acA	p.T809T	MYBPC1_ENST00000547509.1_Silent_p.T764T|MYBPC1_ENST00000361466.2_Silent_p.T803T|MYBPC1_ENST00000541119.1_Silent_p.T766T|MYBPC1_ENST00000547405.1_Silent_p.T752T|MYBPC1_ENST00000536007.1_Silent_p.T759T|MYBPC1_ENST00000550270.1_Silent_p.T796T|MYBPC1_ENST00000360610.2_Silent_p.T796T|MYBPC1_ENST00000392934.3_Silent_p.T765T|MYBPC1_ENST00000441232.1_Silent_p.T796T|MYBPC1_ENST00000361685.2_Silent_p.T803T|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000452455.2_Silent_p.T796T|MYBPC1_ENST00000553190.1_Silent_p.T778T|MYBPC1_ENST00000545503.2_Silent_p.T778T|MYBPC1_ENST00000551300.1_Silent_p.T679T			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	796	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CGAAGTTCACCATCACAGGTC	0.463000													16	82					1.56452e-12	2.52192e-12	0.557998	1	0
KCNH2	3757	broad.mit.edu	37	7	150647357	150647357	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:150647357C>A	ENST00000392968.2	-	7	3129	c.2009G>T	c.(2008-2010)gGg>gTg	p.G670V	KCNH2_ENST00000330883.4_Missense_Mutation_p.G426V|KCNH2_ENST00000262186.5_Missense_Mutation_p.G766V|KCNH2_ENST00000430723.3_Missense_Mutation_p.G766V			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	766					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CAGTGTGTCCCCTGGCGGTGC	0.647000													21	169					7.92952e-12	1.25454e-11	0.667858	1	0
RBM28	55131	broad.mit.edu	37	7	127964620	127964620	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:127964620C>A	ENST00000223073.1	-	12	1445	c.1331G>T	c.(1330-1332)cGa>cTa	p.R444L	RBM28_ENST00000415472.2_Missense_Mutation_p.R303L	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	444					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						ACAGCCTTCTCGGGCCAGATA	0.517000													76	232					3.71514e-35	7.71605e-35	0.870114	1	0
AKAP8	10270	broad.mit.edu	37	19	15483728	15483728	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:15483728G>A	ENST00000269701.2	-	5	855	c.795C>T	c.(793-795)ggC>ggT	p.G265G		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	265					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TGTCATAGCCGCCCGCCCCCT	0.701000													5	21					0	0	0.307466	0	0
PDCD1	5133	broad.mit.edu	37	2	242794883	242794883	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:242794883C>A	ENST00000334409.5	-	2	395	c.326G>T	c.(325-327)aGc>aTc	p.S109I		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	109	Ig-like V-type.				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		CCTGACCACGCTCATGTGGAA	0.677000													16	79					1.22574e-08	1.7157e-08	0.624587	1	0
TCEAL5	340543	broad.mit.edu	37	X	102528919	102528919	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:102528919C>A	ENST00000372680.1	-	3	867	c.573G>T	c.(571-573)agG>agT	p.R191S		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TACCTCCGCCCCTCACTCCCC	0.478000													23	49					8.58068e-18	1.55269e-17	0.717897	1	0
GTF3C4	9329	broad.mit.edu	37	9	135554779	135554779	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:135554779C>T	ENST00000372146.4	+	2	2337	c.1773C>T	c.(1771-1773)acC>acT	p.T591T		NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	591					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		TGCAGAAAACCCCTTCAGAAG	0.433000													27	144					0	0	0.729181	0	0
LMX1A	4009	broad.mit.edu	37	1	165182938	165182938	+	Silent	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:165182938T>C	ENST00000342310.3	-	5	991	c.609A>G	c.(607-609)acA>acG	p.T203T	LMX1A_ENST00000367893.4_Silent_p.T203T|LMX1A_ENST00000294816.2_Silent_p.T203T	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	203						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TCTGTTGAGTTGTCAAGATGG	0.547000													34	171					0	0	0.819951	0	0
RHPN2	85415	broad.mit.edu	37	19	33517454	33517454	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:33517454C>G	ENST00000254260.3	-	3	305	c.270G>C	c.(268-270)gaG>gaC	p.E90D	RHPN2_ENST00000400226.4_5'UTR	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	90					signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GCCCCTCCAGCTCTTCCTTGA	0.537000													8	317					0	0	0.479597	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719831	140719831	+	Silent	SNP	C	C	A	rs151082079		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:140719831C>A	ENST00000394576.2	+	1	1293	c.1293C>A	c.(1291-1293)tcC>tcA	p.S431S	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACCCCTCCCTGTCCACGG	0.507000													19	35					4.35082e-09	6.19991e-09	0.592651	1	0
UBE4B	10277	broad.mit.edu	37	1	10238837	10238837	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:10238837G>T	ENST00000377157.3	+	25	3987	c.2926G>T	c.(2926-2928)Gca>Tca	p.A976S	UBE4B_ENST00000343090.6_Missense_Mutation_p.A1221S|UBE4B_ENST00000253251.8_Missense_Mutation_p.A1092S	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	1221					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GAACGCACGCGCAGAAATCGA	0.453000													6	71					0.00448238	0.00485631	0.307466	1	0
MDGA1	266727	broad.mit.edu	37	6	37611712	37611712	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:37611712G>A	ENST00000434837.2	-	14	3587	c.2409C>T	c.(2407-2409)taC>taT	p.Y803Y	MDGA1_ENST00000297153.7_Silent_p.Y807Y|MDGA1_ENST00000505425.1_Silent_p.Y803Y	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	803	MAM.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CGATGAACATGTAGTAGCCTG	0.592000													6	32					0	0	0.278610	0	0
CBLN4	140689	broad.mit.edu	37	20	54573644	54573644	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:54573644G>T	ENST00000064571.2	-	3	1875	c.575C>A	c.(574-576)aCg>aAg	p.T192K		NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	192	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			GCCAGAAAACGTGGAATACTG	0.448000													13	103					0.00498961	0.00536618	0.520397	1	0
DMRTB1	63948	broad.mit.edu	37	1	53927316	53927316	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:53927316T>A	ENST00000371445.3	+	2	803	c.748T>A	c.(748-750)Ttg>Atg	p.L250M	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	250	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						AGGCGGAGGCTTGGTGAGTCC	0.642000													17	55					0	0	0.575678	0	0
IQCE	23288	broad.mit.edu	37	7	2608633	2608633	+	Splice_Site	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:2608633A>T	ENST00000402050.2	+	3	314	c.130_splice	c.e3+1	p.K44_splice	IQCE_ENST00000438376.2_Splice_Site_p.K28_splice|IQCE_ENST00000325979.7_Intron|IQCE_ENST00000404984.1_Intron	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	44										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CACATCGCCAAGTAAGTATGA	0.493000													6	52					0	0	0.217242	0	0
PMS2	5395	broad.mit.edu	37	7	6026958	6026958	+	Nonsense_Mutation	SNP	C	C	A	rs146848345		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:6026958C>A	ENST00000265849.7	-	11	1543	c.1438G>T	c.(1438-1440)Gga>Tga	p.G480*	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Nonsense_Mutation_p.G480*|PMS2_ENST00000441476.2_Nonsense_Mutation_p.G374*|PMS2_ENST00000382321.4_Intron	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	480					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TCACTGGGTCCGTGACTGGAA	0.577000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				16	127					1.08312e-15	1.88193e-15	0.740014	1	0
IGSF22	283284	broad.mit.edu	37	11	18732287	18732287	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:18732287C>A	ENST00000513874.1	-	16	2626	c.2487G>T	c.(2485-2487)ggG>ggT	p.G829G	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	827	Fibronectin type-III 2.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CTGGGGCTCCCCCATCCTGGG	0.567000													8	59					0.0477658	0.049628	0.307466	1	0
ABCC8	6833	broad.mit.edu	37	11	17470172	17470172	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:17470172G>A	ENST00000302539.4	-	8	1348	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	ABCC8_ENST00000389817.3_Missense_Mutation_p.S408F	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	408	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TTCTCCCATGGACAGGTTGGA	0.438000													26	135					0	0	0.740014	0	0
SZT2	23334	broad.mit.edu	37	1	43888878	43888878	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:43888878G>T	ENST00000562955.1	+	15	2146	c.2146G>T	c.(2146-2148)Ggg>Tgg	p.G716W	SZT2_ENST00000372442.1_5'UTR	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	716						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGGTGCTGGTGGGGGCAGCTC	0.632000													12	30					2.27111e-07	3.01639e-07	0.411799	1	0
PHF2	5253	broad.mit.edu	37	9	96428303	96428303	+	Silent	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:96428303G>C	ENST00000359246.4	+	16	2515	c.2148G>C	c.(2146-2148)acG>acC	p.T716T	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	716				AVLPTPVT -> EALLMPTS (in Ref. 1; AAD21791).	liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TGCTGCCCACGCCTGTCACGA	0.632000													15	108					0	0	0.557998	0	0
NPTXR	23467	broad.mit.edu	37	22	39224316	39224316	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:39224316C>T	ENST00000333039.2	-	2	949	c.826G>A	c.(826-828)Ggt>Agt	p.G276S		NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	276						integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					GCCACACGACCCTGCAGGACG	0.612000													36	105					0	0	0.864702	0	0
RHOT1	55288	broad.mit.edu	37	17	30498086	30498086	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:30498086T>C	ENST00000358365.3	+	2	289	c.62T>C	c.(61-63)aTt>aCt	p.I21T	RHOT1_ENST00000581094.1_Missense_Mutation_p.I21T|RHOT1_ENST00000545287.2_Missense_Mutation_p.I21T|RHOT1_ENST00000583994.1_5'UTR|RHOT1_ENST00000394692.2_Missense_Mutation_p.I21T|RHOT1_ENST00000333942.6_Missense_Mutation_p.I21T|RHOT1_ENST00000354266.3_5'UTR|RHOT1_ENST00000580976.1_Intron	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	21	Miro 1.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				ACATCACTGATTATGTCTCTG	0.299000													8	28					0	0	0.361761	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086838	39086838	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr21:39086838G>T	ENST00000400482.3	-	3	1211	c.622C>A	c.(622-624)Cat>Aat	p.H208N	KCNJ6_ENST00000288309.6_Missense_Mutation_p.H208N	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	208					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	ATCACTGCATGGGTGGAAAAG	0.502000													6	63					2.7689e-08	3.84163e-08	0.248553	1	0
ZNF733P	643955	broad.mit.edu	37	7	62753191	62753191	+	RNA	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:62753191G>T	ENST00000331425.6	-	0	244					NR_003952.1																						GGGTGAAATGGGAATGCGTAA	0.358000													26	75					1.13719e-10	1.7133e-10	0.729181	1	0
TBC1D14	57533	broad.mit.edu	37	4	6925363	6925363	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:6925363G>T	ENST00000409757.4	+	2	371	c.247G>T	c.(247-249)Gcg>Tcg	p.A83S	TBC1D14_ENST00000448507.1_Missense_Mutation_p.A83S	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	83						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						ACCCTGCAGCGCGGTCCACGT	0.657000													11	76					9.31168e-06	1.14417e-05	0.435327	1	0
C2orf16	84226	broad.mit.edu	37	2	27801784	27801784	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:27801784T>C	ENST00000408964.2	+	1	2396	c.2345T>C	c.(2344-2346)aTa>aCa	p.I782T		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	782										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAGACCTATATAGACCCTACT	0.403000													20	166					0	0	0.624587	0	0
TTN	7273	broad.mit.edu	37	2	179647701	179647701	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:179647701T>A	ENST00000589042.1	-	18	3156	c.2932A>T	c.(2932-2934)Agg>Tgg	p.R978W	TTN_ENST00000460472.2_Missense_Mutation_p.R932W|TTN_ENST00000360870.5_Missense_Mutation_p.R978W|TTN_ENST00000591111.1_Missense_Mutation_p.R978W|TTN_ENST00000359218.5_Missense_Mutation_p.R932W|TTN_ENST00000342992.6_Missense_Mutation_p.R978W|TTN_ENST00000342175.6_Missense_Mutation_p.R932W	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	978	Ig-like 3.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGTCTTCCCTGTACCATGTC	0.473000													12	94					0	0	0.500413	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19698807	19698807	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr21:19698807C>T	ENST00000284885.3	-	16	1896	c.1863G>A	c.(1861-1863)gtG>gtA	p.V621V		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	621	CUB 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CTCTTGCCAACACATCGTTAG	0.458000													10	138					0	0	0.335167	0	0
GPR98	84059	broad.mit.edu	37	5	89979665	89979665	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:89979665A>G	ENST00000405460.2	+	28	6023	c.5927A>G	c.(5926-5928)tAt>tGt	p.Y1976C		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1976					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GATGATCCATATGGGATATTC	0.408000													3	12					0	0	0.115264	0	0
ING3	54556	broad.mit.edu	37	7	120590975	120590975	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:120590975G>C	ENST00000315870.5	+	1	173	c.25G>C	c.(25-27)Gaa>Caa	p.E9Q	ING3_ENST00000445699.1_Missense_Mutation_p.E9Q|ING3_ENST00000339121.5_Missense_Mutation_p.E9Q	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	9					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					AGACTATCTGGAAAGTGAGTG	0.657000													4	157					0	0	0.217242	0	0
OR52R1	119695	broad.mit.edu	37	11	4825815	4825815	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:4825815C>A	ENST00000380382.1	-	1	32	c.33G>T	c.(31-33)acG>acT	p.T11T	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	0					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)		TGTTGTTTTTCGTACTTATGT	0.318000													3	27					0.150653	0.154185	0.150653	1	0
SLAMF1	6504	broad.mit.edu	37	1	160616702	160616702	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:160616702C>G	ENST00000302035.6	-	1	383	c.34G>C	c.(34-36)Gtg>Ctg	p.V12L	SLAMF1_ENST00000235739.5_Missense_Mutation_p.V12L|SLAMF1_ENST00000494463.1_5'UTR|SLAMF1_ENST00000538290.1_Missense_Mutation_p.V12L|SLAMF1_ENST00000355199.3_Missense_Mutation_p.V12L	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	12					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AGAAACAGCACGAAGGTCAAG	0.562000													6	36					0	0	0.278610	0	0
SCFD2	152579	broad.mit.edu	37	4	53740143	53740143	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:53740143C>A	ENST00000401642.3	-	9	2181	c.2048G>T	c.(2047-2049)gGc>gTc	p.G683V	SCFD2_ENST00000388940.4_Missense_Mutation_p.G638V	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	683					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGCTCAGAAGCCAAGGTCTGG	0.493000													21	62					7.92952e-12	1.25454e-11	0.667858	1	0
FRG2B	441581	broad.mit.edu	37	10	135440191	135440191	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:135440191G>A	ENST00000443774.1	-	1	105	c.56C>T	c.(55-57)aCt>aTt	p.T19I	FRG2B_ENST00000425520.1_Missense_Mutation_p.T19I			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	19						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GGGCTGGTCAGTGGAGCACTG	0.507000													6	300					0	0	0.608945	0	0
SCRN2	90507	broad.mit.edu	37	17	45916941	45916941	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:45916941T>A	ENST00000407215.3	-	4	506	c.425A>T	c.(424-426)tAt>tTt	p.Y142F	SCRN2_ENST00000584123.1_Missense_Mutation_p.Y150F|SCRN2_ENST00000290216.9_Missense_Mutation_p.Y142F			Q96FV2	SCRN2_HUMAN	secernin 2	142					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CCCCTGCCCATAGTGCTCCAG	0.612000													68	365					0	0	0.870114	0	0
MAN2A1	4124	broad.mit.edu	37	5	109155988	109155988	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:109155988C>T	ENST00000261483.4	+	15	3448	c.2396C>T	c.(2395-2397)aCa>aTa	p.T799I		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	799					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TATGGAACCACAATTAAAAGA	0.333000													15	26					0	0	0.500413	0	0
ZNF831	128611	broad.mit.edu	37	20	57769437	57769437	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:57769437C>A	ENST00000371030.2	+	1	3363	c.3363C>A	c.(3361-3363)ggC>ggA	p.G1121G		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1121						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCCTGGTGGGCCCCGACCCGT	0.672000													4	77					1.23904e-05	1.50533e-05	0.184627	1	0
ASMT	438	broad.mit.edu	37	X	1755423	1755423	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:1755423C>T	ENST00000381241.3	+	8	1079	c.880C>T	c.(880-882)Ctg>Ttg	p.L294L	ASMT_ENST00000381229.4_Silent_p.L266L|ASMT_ENST00000381233.3_Silent_p.L219L	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	266					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		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)				CTCACACCTGCTGGAGAGGAT	0.522000													47	246					0	0	0.870114	0	0
TAF5L	27097	broad.mit.edu	37	1	229738322	229738322	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:229738322C>G	ENST00000366675.3	-	4	680	c.592G>C	c.(592-594)Gac>Cac	p.D198H	TAF5L_ENST00000258281.2_Missense_Mutation_p.D198H|TAF5L_ENST00000366676.1_Missense_Mutation_p.D198H	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	198					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GGCTGCACGTCAAGATGAATA	0.537000													8	91					0	0	0.307466	0	0
STXBP6	29091	broad.mit.edu	37	14	25326365	25326365	+	Splice_Site	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:25326365T>A	ENST00000323944.5	-	3	606		c.e3-2		STXBP6_ENST00000550887.1_Splice_Site|STXBP6_ENST00000358326.2_Splice_Site|STXBP6_ENST00000396700.1_Splice_Site|STXBP6_ENST00000548724.1_Splice_Site|STXBP6_ENST00000419632.2_Splice_Site|STXBP6_ENST00000546511.1_Splice_Site			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)						vesicle-mediated transport	cytoplasm|integral to membrane				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		TGTTTGTCACTGCCAAGAAAA	0.458000													20	83					0	0	0.639603	0	0
FSHR	2492	broad.mit.edu	37	2	49195982	49195982	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:49195982C>T	ENST00000406846.2	-	9	828	c.709G>A	c.(709-711)Ggc>Agc	p.G237S	FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000304421.4_Missense_Mutation_p.G211S|FSHR_ENST00000346173.3_Intron	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	237					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TTTTCTAAGCCATAGCTAGGC	0.418000									Gonadal Dysgenesis, 46 XX				8	44					0	0	0.278610	0	0
OR5I1	10798	broad.mit.edu	37	11	55703416	55703416	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:55703416C>T	ENST00000301532.3	-	1	460	c.461G>A	c.(460-462)gGc>gAc	p.G154D		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ACTCATGTTGCCTCCAAGGTA	0.423000													12	68					0	0	0.457914	0	0
FLG	2312	broad.mit.edu	37	1	152280816	152280816	+	Silent	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:152280816C>G	ENST00000368799.1	-	3	6581	c.6546G>C	c.(6544-6546)ggG>ggC	p.G2182G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2182	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCCTGACTGCCCACGGGAGG	0.532000									Ichthyosis				105	569					0	0	0.870114	0	0
FAM71A	149647	broad.mit.edu	37	1	212799391	212799391	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:212799391C>T	ENST00000294829.3	+	1	1603	c.1172C>T	c.(1171-1173)gCg>gTg	p.A391V	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	391	Ala-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GATGCAGCAGCGGGACCTCCC	0.627000													15	82					0	0	0.500413	0	0
LOC81691	81691	broad.mit.edu	37	16	20851772	20851772	+	Silent	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:20851772T>C	ENST00000261377.6	+	15	1817	c.1608T>C	c.(1606-1608)ttT>ttC	p.F536F	AC004381.6_ENST00000348433.6_Silent_p.F536F|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Silent_p.F536F	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					CAATGACTTTTGTTCTTGAAA	0.418000													22	100					0	0	0.750413	0	0
FGFR4	2264	broad.mit.edu	37	5	176524539	176524539	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:176524539C>T	ENST00000292408.4	+	18	2516	c.2271C>T	c.(2269-2271)ctC>ctT	p.L757L	FGFR4_ENST00000502906.1_Silent_p.L757L|FGFR4_ENST00000393648.2_Silent_p.L689L|FGFR4_ENST00000393637.1_Silent_p.L717L|FGFR4_ENST00000292410.3_Silent_p.L717L	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	757					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	ACCTCGACCTCCGCCTGACCT	0.667000										TSP Lung(9;0.080)			18	99					0	0	0.608945	0	0
LAMA4	3910	broad.mit.edu	37	6	112438968	112438968	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:112438968G>A	ENST00000230538.7	-	35	5352	c.4955C>T	c.(4954-4956)tCa>tTa	p.S1652L	LAMA4_ENST00000522006.1_Missense_Mutation_p.S1645L|LAMA4_ENST00000424408.2_Missense_Mutation_p.S1645L|LAMA4_ENST00000389463.4_Missense_Mutation_p.S1645L	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1652	Laminin G-like 5.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCCTTCTGTTGAAAAGTAAGT	0.453000													24	120					0	0	0.717897	0	0
ZIC3	7547	broad.mit.edu	37	X	136649486	136649486	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:136649486C>A	ENST00000287538.5	+	1	1186	c.636C>A	c.(634-636)gcC>gcA	p.A212A	ZIC3_ENST00000370606.3_Silent_p.A212A	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	212					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CCTACGCGGCCGGCGCTCAGT	0.662000													8	35					2.52707e-12	4.06072e-12	0.335167	1	0
SORCS3	22986	broad.mit.edu	37	10	106976796	106976796	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:106976796A>T	ENST00000369701.3	+	19	2877	c.2650A>T	c.(2650-2652)Aag>Tag	p.K884*	SORCS3_ENST00000369699.4_Nonsense_Mutation_p.K170*	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	884	PKD.					integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GCACGTGTATAAGAGTGCGGG	0.517000													7	149					0	0	0.248553	0	0
PMS2	5395	broad.mit.edu	37	7	6026957	6026957	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:6026957C>A	ENST00000265849.7	-	11	1544	c.1439G>T	c.(1438-1440)gGa>gTa	p.G480V	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.G480V|PMS2_ENST00000441476.2_Missense_Mutation_p.G374V|PMS2_ENST00000382321.4_Intron	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	480					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GTCACTGGGTCCGTGACTGGA	0.577000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				15	125					5.45727e-16	9.5386e-16	0.729181	1	0
MROH2B	133558	broad.mit.edu	37	5	41015533	41015533	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:41015533C>A	ENST00000399564.4	-	29	3382	c.2932G>T	c.(2932-2934)Gaa>Taa	p.E978*	MROH2B_ENST00000506092.2_Nonsense_Mutation_p.E533*	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TCATCACTTTCCAGCCCTTCC	0.408000													9	101					4.36969e-10	6.41847e-10	0.435327	1	0
ZNF366	167465	broad.mit.edu	37	5	71757100	71757100	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:71757100C>A	ENST00000318442.5	-	2	714	c.224G>T	c.(223-225)gGg>gTg	p.G75V		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TTTCCTAGACCCTGCTCCTTC	0.577000													14	138					0.000566183	0.000638356	0.520397	1	0
GAB1	2549	broad.mit.edu	37	4	144359300	144359300	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:144359300C>T	ENST00000262995.4	+	4	1169	c.742C>T	c.(742-744)Cgt>Tgt	p.R248C	GAB1_ENST00000262994.4_Missense_Mutation_p.R248C|GAB1_ENST00000505913.1_Missense_Mutation_p.R145C	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	248					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					TCCACCTTCACGTGCCCCATC	0.448000													12	58					0	0	0.457914	0	0
SORBS1	10580	broad.mit.edu	37	10	97141441	97141441	+	Splice_Site	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:97141441C>T	ENST00000371247.2	-	18	1843		c.e18+1		SORBS1_ENST00000371245.3_Splice_Site|SORBS1_ENST00000354106.3_Splice_Site|SORBS1_ENST00000353505.5_Splice_Site|SORBS1_ENST00000361941.3_Splice_Site|SORBS1_ENST00000277982.5_Splice_Site|SORBS1_ENST00000607232.1_Splice_Site|SORBS1_ENST00000393949.1_Splice_Site|SORBS1_ENST00000371227.4_Splice_Site|SORBS1_ENST00000306402.6_Splice_Site|SORBS1_ENST00000371241.1_Splice_Site|SORBS1_ENST00000371239.1_Splice_Site|SORBS1_ENST00000347291.4_Splice_Site|SORBS1_ENST00000474353.2_Splice_Site|SORBS1_ENST00000371246.2_Splice_Site|SORBS1_ENST00000371249.2_Splice_Site			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1						focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		ATGCACATTACCATCTTTTCG	0.403000													10	79					0	0	0.387290	0	0
NPY5R	4889	broad.mit.edu	37	4	164271784	164271784	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:164271784T>A	ENST00000515560.1	+	4	1881	c.359T>A	c.(358-360)cTt>cAt	p.L120H	NPY5R_ENST00000338566.3_Missense_Mutation_p.L120H|NPY5R_ENST00000506953.1_Missense_Mutation_p.L120H			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	120					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ATGCCTTTTCTTCAATGTGTG	0.358000													32	137					0	0	0.760397	0	0
HSPH1	10808	broad.mit.edu	37	13	31712652	31712652	+	Silent	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr13:31712652A>T	ENST00000320027.5	-	17	2606	c.2262T>A	c.(2260-2262)tcT>tcA	p.S754S	HSPH1_ENST00000429785.2_Silent_p.S573S|HSPH1_ENST00000380406.5_Silent_p.S713S|HSPH1_ENST00000445273.2_Silent_p.S756S|HSPH1_ENST00000380405.4_Silent_p.S710S	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	754					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CTTCATTAACAGACTTCTCCA	0.343000													15	72					0	0	0.457914	0	0
SLC27A4	10999	broad.mit.edu	37	9	131117963	131117963	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:131117963C>T	ENST00000300456.3	+	12	1779	c.1662C>T	c.(1660-1662)gcC>gcT	p.A554A	SLC27A4_ENST00000372870.1_Silent_p.A148A	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	554					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						CTGCTGTGGCCAGCCCCACTG	0.662000													9	84					0	0	0.361761	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54676189	54676189	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:54676189A>T	ENST00000474759.1	+	11	1136	c.1088A>T	c.(1087-1089)cAg>cTg	p.Q363L	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.Q363L|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.Q363L|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.Q269L	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	363	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		ATCTGCAGTCAGGCCATCATG	0.408000													3	33					0	0	0.184627	0	0
PAK7	57144	broad.mit.edu	37	20	9525048	9525048	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:9525048C>A	ENST00000378429.3	-	9	2383	c.1837G>T	c.(1837-1839)Gag>Tag	p.E613*	PAK7_ENST00000353224.5_Nonsense_Mutation_p.E613*|PAK7_ENST00000378423.1_Nonsense_Mutation_p.E613*	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	613	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity	p.E613*(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GAAATCACCTCAGGGGCCATC	0.502000													33	153					1.26612e-14	2.13657e-14	0.779181	1	0
CPS1	1373	broad.mit.edu	37	2	211467008	211467008	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:211467008C>A	ENST00000233072.5	+	16	1986	c.1790C>A	c.(1789-1791)tCa>tAa	p.S597*	CPS1_ENST00000430249.2_Nonsense_Mutation_p.S603*|CPS1_ENST00000451903.2_Nonsense_Mutation_p.S146*	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	597	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GGGTTAGGCTCAGGCATCTGT	0.463000													6	114					2.0095e-06	2.53909e-06	0.248553	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121651840	121651840	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:121651840G>A	ENST00000393386.2	+	12	3151	c.2740G>A	c.(2740-2742)Gat>Aat	p.D914N	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	914					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACCCAGCAGTGATGCCATGAT	0.453000													5	97					0	0	0.184627	0	0
MYH13	8735	broad.mit.edu	37	17	10219325	10219325	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:10219325C>A	ENST00000418404.3	-	27	3919	c.3756G>T	c.(3754-3756)acG>acT	p.T1252T	MYH13_ENST00000570743.1_Silent_p.T1252T|MYH13_ENST00000252172.4_Silent_p.T1252T			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1252					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCGTCCGGCACGTTCTTTCTA	0.413000													7	33					0.0293803	0.0306811	0.248553	1	0
HMG20A	10363	broad.mit.edu	37	15	77763275	77763275	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:77763275A>C	ENST00000381714.3	+	6	902	c.474A>C	c.(472-474)agA>agC	p.R158S	HMG20A_ENST00000336216.4_Missense_Mutation_p.R158S	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	158					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						AAGCAGACAGAGATAAGGAGC	0.368000													3	37					0	0	0.150653	0	0
KRTAP21-1	337977	broad.mit.edu	37	21	32127580	32127580	+	Silent	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr21:32127580G>C	ENST00000335093.3	-	1	166	c.117C>G	c.(115-117)ggC>ggG	p.G39G		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	39						intermediate filament				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						caaacccacagccatacccac	0.567000													61	257					0	0	0.870114	0	0
KCTD16	57528	broad.mit.edu	37	5	143586837	143586837	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:143586837G>T	ENST00000507359.2	+	2	1651	c.560G>T	c.(559-561)cGg>cTg	p.R187L	KCTD16_ENST00000512467.1_Missense_Mutation_p.R187L	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	187						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GCCAAGTTTCGGAGAGTTCCC	0.522000													10	43					1.08611e-07	1.4624e-07	0.387290	1	0
PTTG1IP	754	broad.mit.edu	37	21	46276116	46276116	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr21:46276116C>A	ENST00000330938.3	-	4	661	c.441G>T	c.(439-441)caG>caT	p.Q147H	PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397886.3_Missense_Mutation_p.Q126H	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	147					protein import into nucleus	cytoplasm|integral to membrane|nucleus				ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		ACCGTTCCTCCTGCCGTATCC	0.587000													33	137					1.15505e-17	2.08274e-17	0.847076	1	0
FHOD3	80206	broad.mit.edu	37	18	34261508	34261508	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:34261508G>T	ENST00000257209.4	+	12	1542	c.1420G>T	c.(1420-1422)Gag>Tag	p.E474*	FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000590592.1_Nonsense_Mutation_p.E649*|FHOD3_ENST00000445677.1_Nonsense_Mutation_p.E436*|FHOD3_ENST00000359247.4_Nonsense_Mutation_p.E474*	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	474					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GCAGAGAATAGAGCGGGAAGA	0.418000													14	37					1.15088e-07	1.54859e-07	0.500413	1	0
ASB10	136371	broad.mit.edu	37	7	150873378	150873378	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:150873378G>T	ENST00000422024.1	-	5	1485	c.1360C>A	c.(1360-1362)Cag>Aag	p.Q454K	ASB10_ENST00000275838.1_Missense_Mutation_p.Q371K|ASB10_ENST00000434669.1_Missense_Mutation_p.Q416K|ASB10_ENST00000377867.3_Missense_Mutation_p.Q394K|ASB10_ENST00000420175.2_Missense_Mutation_p.Q409K	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	409	SOCS box.				intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TAGAAACGCTGATGTTTCTGG	0.642000													10	35					1.08611e-07	1.4624e-07	0.387290	1	0
ARMCX2	9823	broad.mit.edu	37	X	100911242	100911242	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:100911242T>C	ENST00000328766.5	-	5	1786	c.1333A>G	c.(1333-1335)Aag>Gag	p.K445E	ARMCX2_ENST00000330154.2_Missense_Mutation_p.K445E|ARMCX2_ENST00000356824.4_Missense_Mutation_p.K445E	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	445						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						GCTTTTTCCTTAATGTGTGGA	0.403000													24	33					0	0	0.667858	0	0
KIRREL3	84623	broad.mit.edu	37	11	126333118	126333118	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:126333118C>G	ENST00000525144.2	-	6	925	c.676G>C	c.(676-678)Gtg>Ctg	p.V226L	KIRREL3_ENST00000525704.2_Missense_Mutation_p.V226L|KIRREL3_ENST00000529097.2_Missense_Mutation_p.V226L	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	226	Ig-like C2-type 2.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		GCACGACACACGATGCTCTGG	0.612000													6	49					0	0	0.217242	0	0
ITPR3	3710	broad.mit.edu	37	6	33650360	33650360	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:33650360G>A	ENST00000374316.5	+	35	5596	c.4536G>A	c.(4534-4536)ccG>ccA	p.P1512P	ITPR3_ENST00000605930.1_Silent_p.P1512P			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1512					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						TCGAGTGTCCGTGGCTACAGC	0.657000													16	75					0	0	0.539581	0	0
HMCN1	83872	broad.mit.edu	37	1	186147799	186147799	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:186147799T>G	ENST00000271588.4	+	104	16424	c.16195T>G	c.(16195-16197)Tca>Gca	p.S5399A	HMCN1_ENST00000367492.2_Intron	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5399					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						CAGCTCCTACTCAGAGTATAG	0.453000													6	197					0	0	0.278610	0	0
HIPK1	204851	broad.mit.edu	37	1	114483044	114483044	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:114483044G>T	ENST00000369558.1	+	2	271	c.39G>T	c.(37-39)gtG>gtT	p.V13V	HIPK1_ENST00000369555.2_Silent_p.V13V|HIPK1_ENST00000369559.4_Silent_p.V13V|HIPK1_ENST00000426820.2_Silent_p.V13V|HIPK1_ENST00000369554.2_Silent_p.V13V|HIPK1_ENST00000369561.4_Silent_p.V13V			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCCATCAGTGTCGTCGAGTG	0.443000													37	285					3.76604e-16	6.6107e-16	0.853193	1	0
PLOD3	8985	broad.mit.edu	37	7	100855930	100855930	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:100855930G>T	ENST00000223127.3	-	9	1284	c.886C>A	c.(886-888)Ccc>Acc	p.P296T		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	296					protein modification process	rough endoplasmic reticulum membrane	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-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	AACACCCGGGGGGGAGGCTGG	0.642000													24	50					8.24728e-16	1.44029e-15	0.681144	1	0
FBXO11	80204	broad.mit.edu	37	2	48061991	48061991	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:48061991T>A	ENST00000403359.3	-	6	809	c.737A>T	c.(736-738)aAg>aTg	p.K246M	FBXO11_ENST00000316377.4_Missense_Mutation_p.K162M|FBXO11_ENST00000402508.1_Missense_Mutation_p.K162M	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	246					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAATCCTGGCTTTACATGTGC	0.279000			"""Mis, F, D"""		DLBCL								7	37					0	0	0.335167	0	0
RFTN2	130132	broad.mit.edu	37	2	198436841	198436841	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:198436841G>T	ENST00000295049.3	-	9	1933	c.1397C>A	c.(1396-1398)gCa>gAa	p.A466E		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	466						plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						GTTGTGCTGTGCCAGCCTTCC	0.557000													21	91					3.01185e-09	4.30684e-09	0.667858	1	0
FAM50A	9130	broad.mit.edu	37	X	153678570	153678570	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:153678570A>T	ENST00000393600.3	+	12	1024	c.914A>T	c.(913-915)aAg>aTg	p.K305M		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	305					spermatogenesis	nucleus				breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATGCAGGCAAGGTGGTGCTG	0.607000													30	69					0	0	0.796494	0	0
KARS	3735	broad.mit.edu	37	16	75663384	75663384	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:75663384C>G	ENST00000319410.5	-	13	1685	c.1564G>C	c.(1564-1566)Gag>Cag	p.E522Q	KARS_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Missense_Mutation_p.E494Q	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	494					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	TTGCATATCTCTTTCTTCATG	0.512000													13	214					0	0	0.575678	0	0
PSTK	118672	broad.mit.edu	37	10	124742388	124742388	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:124742388A>T	ENST00000405485.1	+	2	422	c.356A>T	c.(355-357)aAg>aTg	p.K119M	PSTK_ENST00000368887.3_Missense_Mutation_p.K119M|PSTK_ENST00000497219.1_3'UTR			Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	119							ATP binding|kinase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		ACCTGCTTAAAGGATCAAGAT	0.418000													17	97					0	0	0.575678	0	0
DPP6	1804	broad.mit.edu	37	7	154585909	154585909	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:154585909G>A	ENST00000404039.1	+	11	1652	c.1065G>A	c.(1063-1065)acG>acA	p.T355T	DPP6_ENST00000427557.1_Silent_p.T312T|DPP6_ENST00000377770.3_Silent_p.T419T|DPP6_ENST00000332007.3_Silent_p.T357T	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	419					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GGGTCTGCACGAAGGTACGCG	0.687000													4	26					0	0	0.217242	0	0
GPR149	344758	broad.mit.edu	37	3	154147131	154147131	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:154147131G>T	ENST00000389740.2	-	1	373	c.274C>A	c.(274-276)Cag>Aag	p.Q92K		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	92						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTTGGCCACTGCAAAAACATG	0.498000													15	136					1.15919e-05	1.41334e-05	0.575678	1	0
FBXL4	26235	broad.mit.edu	37	6	99365503	99365503	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:99365503G>T	ENST00000369244.2	-	5	1033	c.605C>A	c.(604-606)aCa>aAa	p.T202K	FBXL4_ENST00000229971.1_Missense_Mutation_p.T202K			Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	202					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TATAAGATTTGTGGGGAAATT	0.413000													25	111					2.25844e-05	2.72126e-05	0.717897	1	0
PLCL1	5334	broad.mit.edu	37	2	198949413	198949413	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:198949413C>G	ENST00000428675.1	+	2	1570	c.1172C>G	c.(1171-1173)cCt>cGt	p.P391R	PLCL1_ENST00000437704.2_Missense_Mutation_p.P293R	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	391					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATTTTTGATCCTGAGCAAAAG	0.408000													12	91					0	0	0.435327	0	0
HDAC9	9734	broad.mit.edu	37	7	18914119	18914119	+	Silent	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:18914119G>C	ENST00000406451.3	+	22	2844	c.2694G>C	c.(2692-2694)gtG>gtC	p.V898V	HDAC9_ENST00000432645.2_Silent_p.V898V|HDAC9_ENST00000401921.1_Silent_p.V857V|HDAC9_ENST00000441542.2_Silent_p.V901V	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	898	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGAAGCCTGTGGCCAAAGAGT	0.478000													4	12					0	0	0.217242	0	0
TDRD1	56165	broad.mit.edu	37	10	115963868	115963868	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:115963868C>T	ENST00000251864.2	+	9	1171	c.1018C>T	c.(1018-1020)Cag>Tag	p.Q340*	TDRD1_ENST00000369281.2_Nonsense_Mutation_p.Q340*|TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369280.1_Nonsense_Mutation_p.Q340*|TDRD1_ENST00000369282.1_Nonsense_Mutation_p.Q340*	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	340	Tudor 1.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CGTTGATGTGCAGCAAAAGAA	0.333000													13	74					0	0	0.500413	0	0
DDI1	414301	broad.mit.edu	37	11	103907912	103907912	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:103907912C>T	ENST00000302259.3	+	1	605	c.362C>T	c.(361-363)gCt>gTt	p.A121V	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	121					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CGCACACCCGCTGCCCAGCGG	0.682000													5	62					0	0	0.217242	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819977	50819977	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:50819977C>A	ENST00000374115.3	+	1	1631	c.1191C>A	c.(1189-1191)gtC>gtA	p.V397V	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	397					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TAGCCCTAGTCGACACAGCAC	0.632000													8	41					9.70103e-10	1.41281e-09	0.361761	1	0
ADAM23	8745	broad.mit.edu	37	2	207408023	207408023	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:207408023G>A	ENST00000264377.3	+	6	1031	c.703G>A	c.(703-705)Gag>Aag	p.E235K	ADAM23_ENST00000374416.1_Missense_Mutation_p.E235K|ADAM23_ENST00000374415.3_Missense_Mutation_p.E235K	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	235					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGAGCCACTAGAGCTGGTTCA	0.428000													7	58					0	0	0.335167	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518146	113518146	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:113518146C>G	ENST00000284601.3	-	4	3069	c.3001G>C	c.(3001-3003)Gag>Cag	p.E1001Q		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1001					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ACACTATACTCTTCTGTTTGG	0.373000													24	76					0	0	0.717897	0	0
PRODH	5625	broad.mit.edu	37	22	18918533	18918533	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:18918533C>A	ENST00000357068.6	-	2	717	c.452G>T	c.(451-453)aGc>aTc	p.S151I	PRODH_ENST00000420436.1_Missense_Mutation_p.S43I|PRODH_ENST00000334029.2_Missense_Mutation_p.S43I	NM_016335.4	NP_057419.4	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	151					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	CTCCTCGGGGCTCAGGTCCTC	0.637000													13	94					5.3912e-06	6.67235e-06	0.539581	1	0
ZNF169	169841	broad.mit.edu	37	9	97062949	97062949	+	Missense_Mutation	SNP	G	G	T	rs138071298		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:97062949G>T	ENST00000395395.2	+	5	1199	c.1109G>T	c.(1108-1110)gGg>gTg	p.G370V	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	370						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				TCACACACAGGGGAGAGGCCC	0.577000													10	36					7.48243e-07	9.66873e-07	0.335167	1	0
MCM3AP	8888	broad.mit.edu	37	21	47697624	47697624	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr21:47697624C>A	ENST00000397708.1	-	6	1929	c.1675G>T	c.(1675-1677)Gtg>Ttg	p.V559L	MCM3AP_ENST00000291688.1_Missense_Mutation_p.V559L			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	559					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GGCTTCTTCACTGGAGAGCTA	0.527000													11	40					4.36969e-10	6.41847e-10	0.435327	1	0
TRIOBP	11078	broad.mit.edu	37	22	38131136	38131136	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:38131136C>T	ENST00000406386.3	+	9	5048	c.4793C>T	c.(4792-4794)cCa>cTa	p.P1598L	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1598					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CGCAAGGACCCAGCTGGACAC	0.672000											OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	31					0	0	0.217242	0	0
KRT12	3859	broad.mit.edu	37	17	39019540	39019540	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:39019540A>T	ENST00000251643.4	-	6	1174	c.1151T>A	c.(1150-1152)cTg>cAg	p.L384Q		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	384	Coil 2.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				CACCTGGGACAGCTGCGCGCA	0.617000													4	32					0	0	0.184627	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433768	73433768	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:73433768A>T	ENST00000263666.4	-	10	2063	c.1949T>A	c.(1948-1950)cTg>cAg	p.L650Q	PDZRN3_ENST00000466780.1_Missense_Mutation_p.L307Q|PDZRN3_ENST00000479530.1_Missense_Mutation_p.L367Q|PDZRN3_ENST00000535920.1_Missense_Mutation_p.L372Q|PDZRN3_ENST00000462146.2_Missense_Mutation_p.L307Q	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	650							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTTGAGCTCCAGGAGCTCGCG	0.647000													6	65					0	0	0.307466	0	0
MXRA5	25878	broad.mit.edu	37	X	3241627	3241627	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:3241627C>A	ENST00000217939.6	-	5	2253	c.2099G>T	c.(2098-2100)gGg>gTg	p.G700V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	700						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCCCGAGCCCCCTTCATCCTC	0.512000													13	14					9.05144e-12	1.42874e-11	0.435327	1	0
PAPOLG	64895	broad.mit.edu	37	2	60998691	60998691	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:60998691T>C	ENST00000238714.3	+	7	779	c.530T>C	c.(529-531)aTa>aCa	p.I177T		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	177					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			ATACAAACCATATCAGATAAT	0.353000													10	51					0	0	0.411799	0	0
KNG1	3827	broad.mit.edu	37	3	186459824	186459824	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:186459824C>A	ENST00000265023.4	+	10	1851	c.1639C>A	c.(1639-1641)Ccc>Acc	p.P547T	RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000447445.1_Intron|KNG1_ENST00000287611.2_Intron	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	547					blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	AGGGCCAACACCCATCCCTTC	0.473000													16	70					8.28177e-16	1.44263e-15	0.557998	1	0
ITSN1	6453	broad.mit.edu	37	21	35254609	35254609	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr21:35254609G>C	ENST00000381318.3	+	35	4692	c.4404G>C	c.(4402-4404)aaG>aaC	p.K1468N	ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.K1463N|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.K1407N|ITSN1_ENST00000381285.4_Missense_Mutation_p.K1468N	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1468	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ACAGTGGGAAGCTCTACAAGG	0.483000													9	51					0	0	0.361761	0	0
MUC6	4588	broad.mit.edu	37	11	1019304	1019304	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:1019304G>T	ENST00000421673.2	-	30	4051	c.4001C>A	c.(4000-4002)cCa>cAa	p.P1334Q		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1334	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGATGTGGCTGGGGTTGGTAG	0.642000													4	30					0.00307968	0.00335074	0.278610	1	0
SUPT20H	55578	broad.mit.edu	37	13	37596158	37596158	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr13:37596158C>A	ENST00000360252.4	-	20	1901	c.1654G>T	c.(1654-1656)Ggc>Tgc	p.G552C	SUPT20H_ENST00000350612.6_Missense_Mutation_p.G551C|SUPT20H_ENST00000356185.3_Missense_Mutation_p.G552C|SUPT20H_ENST00000475892.1_Missense_Mutation_p.G630C|SUPT20H_ENST00000464744.1_Missense_Mutation_p.G552C	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1			suppressor of Ty 20 homolog (S. cerevisiae)																		CAAACAGAGCCCACTACATTG	0.373000													16	109					3.32936e-07	4.36819e-07	0.539581	1	0
TM4SF4	7104	broad.mit.edu	37	3	149216656	149216656	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:149216656G>A	ENST00000305354.4	+	4	1453	c.549G>A	c.(547-549)ctG>ctA	p.L183L		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	183						integral to membrane				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			ATGGCCTCCTGGGGACCCTCT	0.567000													21	94					0	0	0.693898	0	0
FMN2	56776	broad.mit.edu	37	1	240371063	240371063	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:240371063C>A	ENST00000319653.9	+	5	3181	c.2951C>A	c.(2950-2952)gCg>gAg	p.A984E		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	984	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTACCCGGAGCGGGCATACCC	0.716000													36	209					2.64894e-19	4.91023e-19	0.870114	1	0
ARHGEF18	23370	broad.mit.edu	37	19	7535098	7535098	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:7535098C>A	ENST00000593531.1	+	22	3309	c.3309C>A	c.(3307-3309)tgC>tgA	p.1103_1103ins*	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.P988T|ARHGEF18_ENST00000359920.6_Missense_Mutation_p.P1146T																							AGCCCTCCTGCCCGGGCCCCC	0.672000													30	59					6.50621e-10	9.53625e-10	0.769981	1	0
ZFYVE1	53349	broad.mit.edu	37	14	73460008	73460008	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:73460008C>A	ENST00000556143.1	-	4	1766	c.1046G>T	c.(1045-1047)cGt>cTt	p.R349L	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.R349L|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.R349L	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	349						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TTCAGGGAAACGGCCCAGCTT	0.527000													13	92					0.0167234	0.0176889	0.435327	1	0
BAI3	577	broad.mit.edu	37	6	69349203	69349203	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:69349203G>A	ENST00000370598.1	+	3	1457	c.636G>A	c.(634-636)ctG>ctA	p.L212L		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	212					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)				ACCAGTCGCTGATTTTGTTAA	0.493000													20	59					0	0	0.693898	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17699607	17699607	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:17699607G>T	ENST00000399080.2	-	1	99	c.76C>A	c.(76-78)Ccg>Acg	p.P26T		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	26										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGGGAATCCGGGTCCTCAGGA	0.597000													32	118					1.56442e-22	3.00017e-22	0.760397	1	0
NAV1	89796	broad.mit.edu	37	1	201687683	201687683	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:201687683G>T	ENST00000367296.4	+	3	1446	c.1026G>T	c.(1024-1026)acG>acT	p.T342T	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Silent_p.T342T|NAV1_ENST00000295624.6_Silent_p.T342T|NAV1_ENST00000367300.3_Silent_p.T342T|NAV1_ENST00000367302.1_Silent_p.T355T	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	342					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CGGAGGGGACGCCCGCCTGGT	0.692000													25	94					5.77227e-19	1.06613e-18	0.729181	1	0
PIP4K2C	79837	broad.mit.edu	37	12	57989791	57989791	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:57989791A>T	ENST00000354947.5	+	4	506	c.490A>T	c.(490-492)Agc>Tgc	p.S164C	PIP4K2C_ENST00000422156.3_Intron|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.S164C|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.S146C			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	164	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					TGACATGCATAGCAACCTCTC	0.493000													17	113					0	0	0.624587	0	0
LPPR4	9890	broad.mit.edu	37	1	99771851	99771851	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:99771851C>A	ENST00000370185.3	+	7	2074	c.1577C>A	c.(1576-1578)tCc>tAc	p.S526Y	LPPR4_ENST00000457765.1_Missense_Mutation_p.S468Y|LPPR4_ENST00000370184.1_Missense_Mutation_p.S368Y	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		526							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TCCATTCAGTCCCGTCCTGGG	0.557000													74	307					4.41824e-40	9.21365e-40	0.870114	1	0
DOCK3	1795	broad.mit.edu	37	3	51266193	51266193	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:51266193C>T	ENST00000266037.9	+	18	1772	c.1749C>T	c.(1747-1749)atC>atT	p.I583I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	583	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)		CTAGCCTCATCTTCCAGCGCA	0.507000													15	48					0	0	0.520397	0	0
LRRC7	57554	broad.mit.edu	37	1	70477512	70477512	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:70477512G>C	ENST00000310961.5	+	13	1356	c.938G>C	c.(937-939)tGt>tCt	p.C313S	LRRC7_ENST00000035383.5_Missense_Mutation_p.C308S|LRRC7_ENST00000415775.2_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	308						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GACTGTAGCTGTAATGAACTG	0.333000													4	41					0	0	0.217242	0	0
OR13C9	286362	broad.mit.edu	37	9	107380297	107380297	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:107380297C>A	ENST00000259362.1	-	1	188	c.189G>T	c.(187-189)ctG>ctT	p.L63L		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						AGAGGTTCCCCAGAAAGAAGT	0.448000													13	83					0.000308642	0.000350295	0.479597	1	0
BPTF	2186	broad.mit.edu	37	17	65962701	65962701	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:65962701C>T	ENST00000321892.4	+	28	8907	c.8846C>T	c.(8845-8847)gCc>gTc	p.A2949V	BPTF_ENST00000306378.6_Missense_Mutation_p.A2823V|BPTF_ENST00000424123.3_Missense_Mutation_p.A2667V|BPTF_ENST00000335221.5_Missense_Mutation_p.A2806V			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2949	Bromo.				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)			CATAAGATGGCCTGGCCTTTC	0.373000													12	66					0	0	0.479597	0	0
KDM6A	7403	broad.mit.edu	37	X	44949026	44949026	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:44949026A>G	ENST00000377967.4	+	25	3628	c.3587A>G	c.(3586-3588)aAt>aGt	p.N1196S	KDM6A_ENST00000536777.1_Missense_Mutation_p.N1151S|KDM6A_ENST00000543216.1_Missense_Mutation_p.N1117S|KDM6A_ENST00000382899.4_Missense_Mutation_p.N1203S	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1196	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TGGTGGCCCAATCTTGAAGAT	0.368000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								9	14					0	0	0.387290	0	0
CMA1	1215	broad.mit.edu	37	14	24976670	24976670	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:24976670G>T	ENST00000250378.3	-	2	130	c.101C>A	c.(100-102)cCc>cAc	p.P34H	CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	34	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		GGCCATGTAGGGGCGGGAATG	0.507000													29	163					3.38236e-24	6.62271e-24	0.827153	1	0
NUP205	23165	broad.mit.edu	37	7	135307653	135307653	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:135307653G>A	ENST00000285968.6	+	31	4485	c.4459G>A	c.(4459-4461)Gat>Aat	p.D1487N		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1487					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						AGATGCTTGTGATGGTCATGA	0.388000													48	131					0	0	0.870114	0	0
CEP55	55165	broad.mit.edu	37	10	95275299	95275299	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:95275299G>T	ENST00000371485.3	+	5	970	c.666G>T	c.(664-666)aaG>aaT	p.K222N		NM_001127182.1|NM_018131.4	NP_001120654.1|NP_060601.3	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	222	Interaction with TSG101.				cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				AGACAAAAAAGCCTGAATCAG	0.373000													8	77					3.09899e-07	4.08421e-07	0.307466	1	0
MYOM2	9172	broad.mit.edu	37	8	2024228	2024228	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:2024228C>A	ENST00000262113.4	+	11	1269	c.1128C>A	c.(1126-1128)gaC>gaA	p.D376E	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	376					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAGATGCTGACCCGCTGGTCA	0.587000													5	19					0.184627	0.187367	0.184627	1	0
HBS1L	10767	broad.mit.edu	37	6	135360779	135360779	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:135360779T>C	ENST00000367837.5	-	4	568	c.362A>G	c.(361-363)gAa>gGa	p.E121G	HBS1L_ENST00000367824.4_Intron|HBS1L_ENST00000367826.2_Missense_Mutation_p.E79G|HBS1L_ENST00000525067.1_Missense_Mutation_p.E57G|HBS1L_ENST00000367822.5_Missense_Mutation_p.E121G|HBS1L_ENST00000314674.3_Missense_Mutation_p.E121G|HBS1L_ENST00000415177.2_Intron|HBS1L_ENST00000367820.2_Missense_Mutation_p.E121G|HBS1L_ENST00000445176.2_Intron	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	121					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		TCTATCTTGTTCCAGAACCCC	0.398000													9	259					0	0	0.387290	0	0
ABLIM2	84448	broad.mit.edu	37	4	8108360	8108360	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:8108360C>A	ENST00000296372.8	-	2	157	c.15G>T	c.(13-15)tcG>tcT	p.S5S	ABLIM2_ENST00000505872.1_Silent_p.S5S|ABLIM2_ENST00000361737.5_Silent_p.S5S|ABLIM2_ENST00000341937.5_Silent_p.S5S|ABLIM2_ENST00000546334.1_Silent_p.S5S|ABLIM2_ENST00000447017.2_Silent_p.S5S|ABLIM2_ENST00000361581.5_Silent_p.S5S|ABLIM2_ENST00000407564.3_Silent_p.S5S|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000545242.1_Silent_p.S5S|ABLIM2_ENST00000428004.2_Silent_p.S5S			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	5					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CCTGGGGCTGCGACACTGTTG	0.627000													5	27					3.59834e-05	4.28791e-05	0.217242	1	0
CACNG2	10369	broad.mit.edu	37	22	37098477	37098477	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:37098477C>T	ENST00000300105.6	-	1	1126	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	49					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TTGCTGGTTTCATTCTCACTG	0.507000													42	217					0	0	0.870114	0	0
GLP1R	2740	broad.mit.edu	37	6	39046943	39046943	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:39046943C>A	ENST00000373256.4	+	10	1053	c.1010C>A	c.(1009-1011)gCc>gAc	p.A337D		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	337					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	AAACTGAAGGCCAATCTCATG	0.557000													29	200					8.88839e-20	1.65658e-19	0.750413	1	0
CADM2	253559	broad.mit.edu	37	3	86114811	86114811	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:86114811G>C	ENST00000383699.3	+	9	1654	c.1027G>C	c.(1027-1029)Gtg>Ctg	p.V343L	CADM2_ENST00000407528.2_Missense_Mutation_p.V374L|CADM2_ENST00000405615.2_Missense_Mutation_p.V376L	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	374	Thr-rich.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		AGGAGGAATAGTGGCTGTAGT	0.403000													3	46					0	0	0.150653	0	0
APBA1	320	broad.mit.edu	37	9	72131966	72131966	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:72131966C>A	ENST00000265381.4	-	2	383	c.161G>T	c.(160-162)gGg>gTg	p.G54V		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	54					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GAGGGCTCGCCCGCGCTGGTG	0.706000													3	11					6.4e-05	7.50611e-05	0.115264	1	0
HDX	139324	broad.mit.edu	37	X	83581204	83581204	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:83581204A>T	ENST00000297977.5	-	9	2040	c.1929T>A	c.(1927-1929)gaT>gaA	p.D643E	HDX_ENST00000373177.2_Missense_Mutation_p.D643E|HDX_ENST00000506585.2_Missense_Mutation_p.D585E	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	643						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GTTCCTTATCATCAGCTTTCA	0.348000													4	59					0	0	0.248553	0	0
IGHV3-16	28447	broad.mit.edu	37	14	106622149	106622149	+	RNA	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:106622149C>A	ENST00000390604.2	-	0	169																											ACCCCCCAGGCTGTACCAAGC	0.577000													6	264					0.000274275	0.000312327	0.307466	1	0
COL22A1	169044	broad.mit.edu	37	8	139609207	139609207	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:139609207A>T	ENST00000303045.6	-	62	4818	c.4372T>A	c.(4372-4374)Tct>Act	p.S1458T	COL22A1_ENST00000435777.1_Missense_Mutation_p.S1438T|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1458	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ATGGATGGAGACTCCCCCTAG	0.522000										HNSCC(7;0.00092)			22	177					0	0	0.681144	0	0
C15orf59	388135	broad.mit.edu	37	15	74032375	74032375	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:74032375G>T	ENST00000569673.1	-	3	1969	c.765C>A	c.(763-765)gcC>gcA	p.A255A	C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Silent_p.A255A			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	255										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TCTGTTCAGGGGCCAAGGTAG	0.617000													34	177					1.07121e-22	2.06202e-22	0.827153	1	0
SDCBP2	27111	broad.mit.edu	37	20	1300260	1300260	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:1300260T>C	ENST00000360779.3	-	3	271	c.98A>G	c.(97-99)cAg>cGg	p.Q33R	SDCBP2_ENST00000339987.3_Missense_Mutation_p.Q33R|SDCBP2_ENST00000381812.1_Missense_Mutation_p.Q33R	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN	syndecan binding protein (syntenin) 2	33					intracellular signal transduction|intracellular transport|nervous system development	cytoplasm	protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						GGCTGTTGCCTGGACTGGCAG	0.632000													2	9					0	0	0.248553	0	0
BZRAP1	9256	broad.mit.edu	37	17	56400038	56400038	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:56400038C>A	ENST00000355701.3	-	9	2164	c.1294G>T	c.(1294-1296)Gag>Tag	p.E432*	BZRAP1_ENST00000268893.6_Nonsense_Mutation_p.E372*|BZRAP1_ENST00000343736.4_Nonsense_Mutation_p.E432*	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	432						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCAGGCTCTCCAGCTTGCTC	0.622000													10	157					3.86212e-05	4.5625e-05	0.361761	1	0
OR2AG2	338755	broad.mit.edu	37	11	6789425	6789425	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:6789425G>C	ENST00000338569.2	-	1	861	c.764C>G	c.(763-765)gCc>gGc	p.A255G		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CATGAATGTGGCAGCTCCATA	0.488000													12	73					0	0	0.479597	0	0
TFAP2B	7021	broad.mit.edu	37	6	50791342	50791342	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:50791342C>A	ENST00000263046.4	+	3	497	c.331C>A	c.(331-333)Cag>Aag	p.Q111K	TFAP2B_ENST00000393655.3_Missense_Mutation_p.Q102K|TFAP2B_ENST00000489228.1_3'UTR			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	102	Gln/Pro-rich (transactivation domain).				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GCACCAGCCCCAGCAACATCC	0.682000													6	74					0.00198382	0.00217109	0.248553	1	0
MAP7D3	79649	broad.mit.edu	37	X	135328240	135328240	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:135328240T>G	ENST00000316077.9	-	3	457	c.237A>C	c.(235-237)aaA>aaC	p.K79N	MAP7D3_ENST00000370661.1_Missense_Mutation_p.K79N|MAP7D3_ENST00000370663.5_Missense_Mutation_p.K61N	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	79						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					GCTGTCTCCTTTTCTCCTCTC	0.284000													3	81					0	0	0.150653	0	0
DENND2C	163259	broad.mit.edu	37	1	115143446	115143446	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:115143446C>T	ENST00000393274.1	-	14	2576	c.1951G>A	c.(1951-1953)Gat>Aat	p.D651N	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Intron|DENND2C_ENST00000393276.3_Missense_Mutation_p.D594N	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	651	DENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTACCTCATCTCCAGCCCCA	0.473000													11	61					0	0	0.457914	0	0
CDH10	1008	broad.mit.edu	37	5	24487793	24487793	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:24487793C>T	ENST00000264463.4	-	12	2853	c.2346G>A	c.(2344-2346)ggG>ggA	p.G782G	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	782					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGTCACTTTCCCCACCACCAT	0.408000										HNSCC(23;0.051)			88	175					0	0	0.870114	0	0
IGKV1OR2-118	339562	broad.mit.edu	37	2	90458656	90458656	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:90458656G>A	ENST00000603238.1	+	2	332	c.332G>A	c.(331-333)aGt>aAt	p.111_111insN																								TGTCAACAGAGTGACAGTACC	0.512000													103	1107					0	0	0.870114	0	0
SYNE1	23345	broad.mit.edu	37	6	152777081	152777081	+	Silent	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:152777081T>C	ENST00000367255.5	-	23	3268	c.2667A>G	c.(2665-2667)ttA>ttG	p.L889L	SYNE1_ENST00000367248.3_Silent_p.L879L|SYNE1_ENST00000367253.4_Silent_p.L889L|SYNE1_ENST00000341594.5_Silent_p.L941L|SYNE1_ENST00000265368.4_Silent_p.L889L|SYNE1_ENST00000413186.2_Silent_p.L889L|SYNE1_ENST00000423061.1_Silent_p.L896L|SYNE1_ENST00000448038.1_Silent_p.L896L|SYNE1_ENST00000495090.2_Silent_p.L456L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	889					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAAAATGCTTTAACACGTTGC	0.403000										HNSCC(10;0.0054)			19	80					0	0	0.654019	0	0
CTNND2	1501	broad.mit.edu	37	5	11346628	11346628	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:11346628G>T	ENST00000304623.8	-	9	1673	c.1484C>A	c.(1483-1485)cCa>cAa	p.P495Q	CTNND2_ENST00000458100.2_Missense_Mutation_p.P62Q|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.P404Q|CTNND2_ENST00000359640.2_Missense_Mutation_p.P495Q|CTNND2_ENST00000503622.1_Missense_Mutation_p.P158Q	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	495					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ATTGGAGGCTGGGCCGGCGGC	0.657000													17	175					3.62473e-10	5.35104e-10	0.608945	1	0
ANKFN1	162282	broad.mit.edu	37	17	54543727	54543727	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:54543727G>T	ENST00000566473.2	+	14	1577	c.1577G>T	c.(1576-1578)gGg>gTg	p.G526V	ANKFN1_ENST00000318698.2_Missense_Mutation_p.G526V			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	526										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						AATTTACTTGGGACACACAAC	0.398000													19	92					2.94398e-08	4.07354e-08	0.557998	1	0
OR4K13	390433	broad.mit.edu	37	14	20502224	20502224	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:20502224G>T	ENST00000315693.2	-	1	695	c.694C>A	c.(694-696)Cga>Aga	p.R232R		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TTAGAGGATCGACTAGCAGCA	0.493000													15	60					2.23348e-06	2.81691e-06	0.500413	1	0
MPV17	4358	broad.mit.edu	37	2	27545369	27545369	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:27545369C>G	ENST00000380044.1	-	2	71	c.16G>C	c.(16-18)Gca>Cca	p.A6P	MPV17_ENST00000357186.6_Intron|MPV17_ENST00000405076.1_Missense_Mutation_p.A6P|MPV17_ENST00000405983.1_Missense_Mutation_p.A6P|MPV17_ENST00000233545.2_Missense_Mutation_p.A6P|MPV17_ENST00000403262.2_Missense_Mutation_p.A6P|MPV17_ENST00000399052.4_Missense_Mutation_p.A6P|MPV17_ENST00000402722.1_Missense_Mutation_p.A6P|MPV17_ENST00000402310.1_Missense_Mutation_p.A6P	NM_002437.4	NP_002428.1	P39210	MPV17_HUMAN	MpV17 mitochondrial inner membrane protein	6					cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane				lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCTGGTATGCCCGCCAGAGT	0.617000													15	83					0	0	0.592651	0	0
HTR1B	3351	broad.mit.edu	37	6	78172236	78172236	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:78172236G>T	ENST00000369947.2	-	1	1254	c.885C>A	c.(883-885)tcC>tcA	p.S295S		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	295					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	GCAGGGCGTCGGAGACTCGCA	0.552000													39	202					1.89013e-27	3.79505e-27	0.870114	1	0
CD180	4064	broad.mit.edu	37	5	66479512	66479512	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:66479512A>T	ENST00000256447.4	-	3	1316	c.1159T>A	c.(1159-1161)Tgc>Agc	p.C387S		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	387					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		AGACTGCAGCAGTCAGAAGCC	0.463000													14	73					0	0	0.457914	0	0
ARAP1	116985	broad.mit.edu	37	11	72404808	72404808	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:72404808T>C	ENST00000359373.5	-	28	4588	c.3737A>G	c.(3736-3738)cAc>cGc	p.H1246R	ARAP1_ENST00000393609.3_Missense_Mutation_p.H1246R|ARAP1_ENST00000334211.8_Missense_Mutation_p.H1001R|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000455638.2_Missense_Mutation_p.H1246R|ARAP1_ENST00000429686.1_Missense_Mutation_p.H940R|ARAP1_ENST00000393605.3_Missense_Mutation_p.H1006R|ARAP1_ENST00000426523.1_Missense_Mutation_p.H1001R|ARAP1-AS1_ENST00000542022.1_RNA			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1246	Ras-associating.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GCCCAGCCCGTGCAGGATGGG	0.652000													3	20					0	0	0.150653	0	0
MUC16	94025	broad.mit.edu	37	19	9077021	9077021	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:9077021G>T	ENST00000397910.4	-	3	10628	c.10425C>A	c.(10423-10425)acC>acA	p.T3475T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3476	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						CTGAGGGATTGGTGAGGCTTG	0.483000													5	13					1.024e-07	1.39063e-07	0.184627	1	0
SHBG	6462	broad.mit.edu	37	17	7536624	7536624	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:7536624A>G	ENST00000380450.4	+	8	1194	c.1163A>G	c.(1162-1164)cAc>cGc	p.H388R	SHBG_ENST00000575314.1_Missense_Mutation_p.H330R|SHBG_ENST00000575903.1_Missense_Mutation_p.H370R|SHBG_ENST00000574539.1_3'UTR|SHBG_ENST00000441599.2_Missense_Mutation_p.H273R|SHBG_ENST00000340624.5_3'UTR|SHBG_ENST00000570547.1_Missense_Mutation_p.H215R|SHBG_ENST00000572262.1_Missense_Mutation_p.H276R|SHBG_ENST00000576728.1_3'UTR|SHBG_ENST00000576478.1_Missense_Mutation_p.H161R|SHBG_ENST00000416273.3_3'UTR|SHBG_ENST00000572182.1_3'UTR	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	388	Laminin G-like 2.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	ATCTGGACTCACAGCTGCCCC	0.502000											OREG0024140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	30					0	0	0.411799	0	0
FER1L6	654463	broad.mit.edu	37	8	125076754	125076754	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:125076754G>T	ENST00000522917.1	+	26	3701	c.3495G>T	c.(3493-3495)ccG>ccT	p.P1165P	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.P1165P	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1165						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)			ACTCATCCCCGATGCTGGAGC	0.537000													12	93					4.36969e-10	6.41847e-10	0.435327	1	0
ANGPT4	51378	broad.mit.edu	37	20	896758	896758	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:896758C>G	ENST00000381922.3	-	1	202	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	ANGPT4_ENST00000546022.1_Missense_Mutation_p.E34Q	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	34					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						ACAAGTGTCTCGCAGCCCCTA	0.617000													10	61					0	0	0.361761	0	0
TRIM9	114088	broad.mit.edu	37	14	51448577	51448577	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:51448577C>A	ENST00000298355.3	-	8	2969	c.1848G>T	c.(1846-1848)tgG>tgT	p.W616C	TRIM9_ENST00000338969.5_Missense_Mutation_p.W697C	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	616	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CATACATTGCCCAAGCTTTGT	0.517000													22	141					1.38267e-23	2.69187e-23	0.693898	1	0
SLC3A1	6519	broad.mit.edu	37	2	44502905	44502905	+	Silent	SNP	T	T	C	rs146630359	byFrequency	TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:44502905T>C	ENST00000260649.6	+	1	307	c.231T>C	c.(229-231)tcT>tcC	p.S77S	SLC3A1_ENST00000410056.3_Silent_p.S77S|SLC3A1_ENST00000409741.1_Silent_p.S77S|SLC3A1_ENST00000409387.1_Silent_p.S77S|SLC3A1_ENST00000409229.3_Silent_p.S77S	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	77					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	TCCAGTTCTCTGGCCAGGCCC	0.622000													7	66					0	0	0.307466	0	0
L3MBTL4	91133	broad.mit.edu	37	18	5956348	5956348	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:5956348C>A	ENST00000284898.6	-	20	1943	c.1743G>T	c.(1741-1743)acG>acT	p.T581T	L3MBTL4_ENST00000317931.7_Silent_p.T572T|L3MBTL4_ENST00000400105.2_Silent_p.T581T|RP11-793A3.1_ENST00000577704.1_RNA|L3MBTL4_ENST00000535782.1_Silent_p.T385T	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	581	SAM.				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TGACAATGTCCGTCTGTGTCA	0.433000													19	210					5.35047e-06	6.63795e-06	0.654019	1	0
PYCR2	29920	broad.mit.edu	37	1	226109735	226109735	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:226109735C>A	ENST00000343818.6	-	4	511	c.363G>T	c.(361-363)atG>atT	p.M121I	PYCR2_ENST00000478402.1_5'UTR|RP4-559A3.7_ENST00000432920.2_Intron	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	121					proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)|NADH(DB00157)	GTGTGTTGGTCATGCAGCGAA	0.622000													7	51					0.27861	0.281769	0.278610	1	0
CDH9	1007	broad.mit.edu	37	5	26881305	26881305	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:26881305C>G	ENST00000231021.4	-	12	2482	c.2310G>C	c.(2308-2310)tgG>tgC	p.W770C		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	770					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						AACGAGGCCCCCAGTCACTGA	0.418000													51	212					0	0	0.870114	0	0
LAMA2	3908	broad.mit.edu	37	6	129762067	129762067	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:129762067C>A	ENST00000421865.2	+	43	6241	c.6192C>A	c.(6190-6192)ggC>ggA	p.G2064G		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2064	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACCTCGATGGCCTGAAGAAGA	0.443000													14	48					2.61681e-11	4.05567e-11	0.457914	1	0
CALCOCO2	10241	broad.mit.edu	37	17	46937757	46937757	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:46937757G>A	ENST00000258947.3	+	11	1191	c.1090G>A	c.(1090-1092)Gat>Aat	p.D364N	CALCOCO2_ENST00000508679.1_Missense_Mutation_p.D292N|CALCOCO2_ENST00000509507.1_Missense_Mutation_p.D385N|CALCOCO2_ENST00000448105.2_Missense_Mutation_p.D388N|CALCOCO2_ENST00000416445.2_Missense_Mutation_p.D322N	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	364					response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						ACCTACTTCAGATGAAGGAGG	0.443000													21	88					0	0	0.608945	0	0
OPRL1	4987	broad.mit.edu	37	20	62724238	62724238	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:62724238G>T	ENST00000349451.3	+	4	577	c.165G>T	c.(163-165)gtG>gtT	p.V55V	OPRL1_ENST00000355631.4_Silent_p.V55V|OPRL1_ENST00000336866.2_Silent_p.V55V	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	55					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TCACCATCGTGGGGCTCTACC	0.642000													16	100					1.20859e-23	2.35745e-23	0.557998	1	0
NKAIN4	128414	broad.mit.edu	37	20	61873930	61873930	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:61873930T>G	ENST00000370316.3	-	6	667	c.578A>C	c.(577-579)aAt>aCt	p.N193T	NKAIN4_ENST00000370307.2_Missense_Mutation_p.N131T|NKAIN4_ENST00000370313.1_Intron|NKAIN4_ENST00000466885.1_5'UTR	NM_152864.3	NP_690603.3	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4	193						integral to membrane|plasma membrane				endometrium(2)|lung(1)|ovary(1)	4	all_cancers(38;2.72e-09)					TGGCTTTTCATTGACATGGTA	0.453000													20	381					0	0	0.693898	0	0
TP53	7157	broad.mit.edu	37	17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:7578275G>A	ENST00000420246.2	-	6	706	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	192	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATAAGATGCTGAGGAGGGGCC	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	37					0	0	0.387290	0	0
ZNF483	158399	broad.mit.edu	37	9	114289935	114289935	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:114289935C>A	ENST00000309235.5	+	2	418	c.260C>A	c.(259-261)aCg>aAg	p.T87K	ZNF483_ENST00000374374.3_Missense_Mutation_p.T87K|ZNF483_ENST00000358151.4_Missense_Mutation_p.T87K|ZNF483_ENST00000355824.3_Missense_Mutation_p.T87K	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	87	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GACATTCACACGAAAGAACAG	0.468000													10	71					1.58986e-06	2.02508e-06	0.361761	1	0
NCOA5	57727	broad.mit.edu	37	20	44691186	44691186	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:44691186C>A	ENST00000290231.6	-	8	1657	c.1493G>T	c.(1492-1494)gGc>gTc	p.G498V		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	498	Transcription activation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AGGTCTGGGGCCCATGTTCTG	0.562000													13	55					7.93312e-07	1.02125e-06	0.457914	1	0
GBP4	115361	broad.mit.edu	37	1	89654371	89654371	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:89654371C>A	ENST00000355754.6	-	8	1401	c.1304G>T	c.(1303-1305)aGc>aTc	p.S435I		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	435						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		TCTCAAAATGCTTTCTGTCAG	0.438000													38	221					1.15505e-17	2.08274e-17	0.847076	1	0
PROL1	58503	broad.mit.edu	37	4	71275743	71275743	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:71275743G>T	ENST00000399575.2	+	3	872	c.698G>T	c.(697-699)aGc>aTc	p.S233I		NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	233					regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ATATTAAGCAGCCCAGCCTTT	0.368000													11	72					2.80697e-09	4.01948e-09	0.387290	1	0
XIRP2	129446	broad.mit.edu	37	2	168105160	168105160	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:168105160C>T	ENST00000409195.1	+	9	7347	c.7258C>T	c.(7258-7260)Cca>Tca	p.P2420S	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2198S|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P2420S|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2245					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						CGGTGTGTTGCCACCTCCCAC	0.423000													5	93					0	0	0.248553	0	0
GRIN2A	2903	broad.mit.edu	37	16	9892237	9892237	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:9892237C>A	ENST00000396573.2	-	12	2562	c.2253G>T	c.(2251-2253)ggG>ggT	p.G751G	GRIN2A_ENST00000535259.1_Silent_p.G594G|GRIN2A_ENST00000562109.1_Silent_p.G751G|GRIN2A_ENST00000404927.2_Silent_p.G751G|GRIN2A_ENST00000330684.3_Silent_p.G751G|GRIN2A_ENST00000396575.2_Silent_p.G751G	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	751					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGTACCCACTCCCGATGGTCA	0.522000													19	67					1.42536e-11	2.23099e-11	0.681144	1	0
MMP3	4314	broad.mit.edu	37	11	102711239	102711239	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:102711239G>A	ENST00000299855.5	-	5	967	c.711C>T	c.(709-711)taC>taT	p.Y237Y		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	237					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	GATAGAGTGGGTACATCAAAG	0.453000													31	116					0	0	0.779181	0	0
PCLO	27445	broad.mit.edu	37	7	82585778	82585778	+	Silent	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:82585778A>G	ENST00000423517.2	-	5	4828	c.4491T>C	c.(4489-4491)tcT>tcC	p.S1497S	PCLO_ENST00000333891.8_Silent_p.S1497S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1428					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						CAACAAACTCAGACTTCTCTT	0.373000													13	30					0	0	0.457914	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955516	18955516	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:18955516G>A	ENST00000302797.3	-	1	1040	c.816C>T	c.(814-816)taC>taT	p.Y272Y		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	272					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCACGAAGAAGTAAATGATGG	0.488000													9	28					0	0	0.520397	0	0
ZNF831	128611	broad.mit.edu	37	20	57829094	57829094	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:57829094G>T	ENST00000371030.2	+	5	4330	c.4330G>T	c.(4330-4332)Ggg>Tgg	p.G1444W		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1444						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCTTGACCTTGGGTTGCTGGA	0.527000													14	75					4.7546e-09	6.75654e-09	0.500413	1	0
LAD1	3898	broad.mit.edu	37	1	201355954	201355954	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:201355954C>A	ENST00000391967.2	-	3	836	c.535G>T	c.(535-537)Gtc>Ttc	p.V179F	LAD1_ENST00000367313.3_Missense_Mutation_p.V193F	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	179						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TTCTCCAAGACTGGGGACTTT	0.577000													31	67					2.47511e-08	3.441e-08	0.729181	1	0
KIAA1324L	222223	broad.mit.edu	37	7	86548585	86548585	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:86548585C>A	ENST00000450689.2	-	11	1626	c.1441G>T	c.(1441-1443)Ggt>Tgt	p.G481C	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.G241C|KIAA1324L_ENST00000490995.1_5'UTR|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.G481C|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.G314C	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	481						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TTGTCAGAACCTCCAGCCCCA	0.353000													39	82					2.64514e-33	5.46058e-33	0.870114	1	0
GARNL3	84253	broad.mit.edu	37	9	130075789	130075789	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:130075789A>G	ENST00000373387.4	+	4	741	c.389A>G	c.(388-390)cAa>cGa	p.Q130R	GARNL3_ENST00000435213.2_Missense_Mutation_p.Q108R|GARNL3_ENST00000314904.5_Missense_Mutation_p.Q130R	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	130					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						CTTTCTGACCAAAACAATCAA	0.413000													32	96					0	0	0.769981	0	0
TXLNB	167838	broad.mit.edu	37	6	139564012	139564012	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:139564012C>T	ENST00000358430.3	-	10	1938	c.1706G>A	c.(1705-1707)aGt>aAt	p.S569N	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	569						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TTCAGCATCACTGCCTCCTTC	0.607000													15	69					0	0	0.479597	0	0
UNC5C	8633	broad.mit.edu	37	4	96090419	96090419	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:96090419G>T	ENST00000453304.1	-	16	3110	c.2762C>A	c.(2761-2763)aCg>aAg	p.T921K		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	921	Death.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GGACACCACCGTTTCATGTCT	0.507000													41	130					4.86159e-25	9.60153e-25	0.870114	1	0
SCAP	22937	broad.mit.edu	37	3	47476601	47476601	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:47476601G>T	ENST00000265565.5	-	3	561	c.149C>A	c.(148-150)cCa>cAa	p.P50Q	SCAP_ENST00000545718.1_5'UTR|SCAP_ENST00000441517.2_5'UTR	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	50					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TCCTGTTCCTGGCAAGGGGAG	0.537000													16	48					2.5808e-16	4.55748e-16	0.539581	1	0
FHOD3	80206	broad.mit.edu	37	18	34297950	34297950	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:34297950C>A	ENST00000257209.4	+	16	2286	c.2164C>A	c.(2164-2166)Cag>Aag	p.Q722K	FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000590592.1_Missense_Mutation_p.Q897K|FHOD3_ENST00000445677.1_Missense_Mutation_p.Q684K|FHOD3_ENST00000359247.4_Missense_Mutation_p.Q705K	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	705					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GAGGACCCAGCAGGAGGCAGA	0.587000													18	70					4.96729e-08	6.79073e-08	0.575678	1	0
PHEX	5251	broad.mit.edu	37	X	22065311	22065311	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:22065311G>T	ENST00000379374.4	+	3	896	c.331G>T	c.(331-333)Gtt>Ttt	p.V111F	PHEX_ENST00000535894.1_Missense_Mutation_p.V14F|PHEX_ENST00000537599.1_Missense_Mutation_p.V111F	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	111					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GAGACATAATGTTGACCTCAA	0.398000													22	43					1.66031e-10	2.47958e-10	0.667858	1	0
UGT3A2	167127	broad.mit.edu	37	5	36038113	36038113	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:36038113G>T	ENST00000282507.3	-	6	1182	c.1081C>A	c.(1081-1083)Cca>Aca	p.P361T	UGT3A2_ENST00000513300.1_Missense_Mutation_p.P327T|UGT3A2_ENST00000545528.1_Missense_Mutation_p.P59T	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	361						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CGGATGCTTGGGTGAGCTGTT	0.502000													35	45					1.62957e-23	3.16655e-23	0.840704	1	0
ACTRT1	139741	broad.mit.edu	37	X	127185589	127185589	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:127185589G>C	ENST00000371124.3	-	1	793	c.597C>G	c.(595-597)agC>agG	p.S199R		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	199						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						AGTTAAACCCGCTAGCAAAGA	0.517000													22	61					0	0	0.639603	0	0
PER1	5187	broad.mit.edu	37	17	8053822	8053822	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:8053822C>T	ENST00000317276.4	-	2	440	c.203G>A	c.(202-204)cGg>cAg	p.R68Q	PER1_ENST00000354903.5_Missense_Mutation_p.R52Q|PER1_ENST00000581082.1_Missense_Mutation_p.R68Q	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	68	Ser-rich.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GTGTGAGCTCCGCTGAGATGC	0.582000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					15	60					0	0	0.557998	0	0
PCDH15	65217	broad.mit.edu	37	10	55826619	55826619	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:55826619C>T	ENST00000373965.2	-	19	2533	c.2139G>A	c.(2137-2139)gtG>gtA	p.V713V	PCDH15_ENST00000373957.3_Silent_p.V684V|PCDH15_ENST00000320301.6_Silent_p.V706V|PCDH15_ENST00000373955.1_Silent_p.V706V|PCDH15_ENST00000437009.1_Silent_p.V635V|PCDH15_ENST00000361849.3_Silent_p.V706V|PCDH15_ENST00000395430.1_Silent_p.V706V|PCDH15_ENST00000395438.1_Silent_p.V706V|PCDH15_ENST00000414778.1_Silent_p.V711V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Silent_p.V684V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Silent_p.V713V|PCDH15_ENST00000395432.2_Silent_p.V669V|PCDH15_ENST00000409834.1_Silent_p.V317V|PCDH15_ENST00000395446.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	706	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CATCTGTCACCACTATGTTTA	0.378000										HNSCC(58;0.16)			12	51					0	0	0.435327	0	0
HAVCR1	26762	broad.mit.edu	37	5	156464332	156464332	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:156464332G>A	ENST00000339252.3	-	6	1410	c.878C>T	c.(877-879)aCt>aTt	p.T293I	HAVCR1_ENST00000523175.1_Missense_Mutation_p.T293I|HAVCR1_ENST00000517644.1_5'UTR|HAVCR1_ENST00000544197.1_Missense_Mutation_p.T293I|HAVCR1_ENST00000522693.1_Missense_Mutation_p.T293I|HAVCR1_ENST00000425854.1_Missense_Mutation_p.T293I	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	288					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATTCCTTTAGTGGTATTGGC	0.383000													22	67					0	0	0.693898	0	0
CCDC14	64770	broad.mit.edu	37	3	123634225	123634225	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:123634225T>A	ENST00000485727.1	-	9	6255	c.1663A>T	c.(1663-1665)Aaa>Taa	p.K555*	CCDC14_ENST00000489746.1_Nonsense_Mutation_p.K555*|CCDC14_ENST00000488653.2_Nonsense_Mutation_p.K755*|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000433542.2_Nonsense_Mutation_p.K714*|CCDC14_ENST00000310351.4_Nonsense_Mutation_p.K595*			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	755						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		GAATCCTGTTTTGAAAGGGCA	0.398000													15	64					0	0	0.520397	0	0
SLC2A12	154091	broad.mit.edu	37	6	134350376	134350376	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:134350376C>T	ENST00000275230.5	-	2	742	c.587G>A	c.(586-588)tGg>tAg	p.W196*		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	196						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)		CATGTACTTCCAGCCATGGAA	0.423000													12	72					0	0	0.539581	0	0
HYAL4	23553	broad.mit.edu	37	7	123508870	123508870	+	Silent	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:123508870C>G	ENST00000223026.4	+	3	1181	c.543C>G	c.(541-543)acC>acG	p.T181T	HYAL4_ENST00000476325.1_Silent_p.T181T	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	181					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TATCAGCTACCGATATTGAAT	0.413000													5	70					0	0	0.217242	0	0
NRG1	3084	broad.mit.edu	37	8	32621404	32621404	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:32621404C>T	ENST00000338921.4	+	13	1948	c.1431C>T	c.(1429-1431)agC>agT	p.S477S	NRG1_ENST00000287840.5_Silent_p.S469S|NRG1_ENST00000287842.3_Silent_p.S466S|NRG1_ENST00000519301.1_Silent_p.S419S|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000539990.1_Silent_p.S312S|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000405005.2_Silent_p.S469S|NRG1_ENST00000287845.5_Silent_p.S440S|NRG1_ENST00000356819.4_Silent_p.S474S			Q02297	NRG1_HUMAN	neuregulin 1	469					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TGGCGGTCAGCCCCTTCATGG	0.567000													5	133					0	0	0.248553	0	0
MIB1	57534	broad.mit.edu	37	18	19321594	19321594	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:19321594G>T	ENST00000261537.6	+	1	314	c.50G>T	c.(49-51)cGg>cTg	p.R17L	MIB1_ENST00000578646.1_Intron	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	17	MIB/HERC2 1.				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GTTGGCGCTCGGGTAGTGCGC	0.731000													31	25					4.14481e-20	7.74604e-20	0.819951	1	0
TMEM143	55260	broad.mit.edu	37	19	48863335	48863335	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:48863335C>A	ENST00000293261.3	-	3	679	c.363G>T	c.(361-363)cgG>cgT	p.R121R	TMEM143_ENST00000436660.2_Silent_p.R121R|TMEM143_ENST00000541566.1_Intron|TMEM143_ENST00000435956.3_Intron|TMEM143_ENST00000377431.2_Intron	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	121						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TCACCTGCAGCCGGGCCAGGA	0.597000													7	62					3.09899e-07	4.08421e-07	0.307466	1	0
KRTAP4-5	85289	broad.mit.edu	37	17	39305727	39305727	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:39305727G>T	ENST00000343246.4	-	1	327	c.293C>A	c.(292-294)cCc>cAc	p.P98H		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	103	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			acagcagctggggcagcagca	0.662000													15	107					1.62849e-17	2.93128e-17	0.500413	1	0
TLE3	7090	broad.mit.edu	37	15	70348691	70348691	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:70348691G>T	ENST00000558939.1	-	14	2660	c.1283C>A	c.(1282-1284)cCg>cAg	p.P428Q	TLE3_ENST00000559191.1_Missense_Mutation_p.P9Q|TLE3_ENST00000451782.2_Missense_Mutation_p.P425Q|TLE3_ENST00000558201.1_Missense_Mutation_p.P434Q|TLE3_ENST00000560939.1_Missense_Mutation_p.P430Q|TLE3_ENST00000317509.8_Missense_Mutation_p.P416Q|TLE3_ENST00000442299.2_Missense_Mutation_p.P420Q|TLE3_ENST00000557997.1_Missense_Mutation_p.P420Q|TLE3_ENST00000440567.3_Missense_Mutation_p.P418Q|TLE3_ENST00000539550.1_Missense_Mutation_p.P355Q|TLE3_ENST00000558379.1_Missense_Mutation_p.P423Q|TLE3_ENST00000559929.1_Missense_Mutation_p.P438Q|TLE3_ENST00000560589.1_Missense_Mutation_p.P372Q|TLE3_ENST00000559048.1_Missense_Mutation_p.P428Q|TLE3_ENST00000557907.1_Missense_Mutation_p.P420Q			Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	428	Pro/Ser-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGCCCGCATCGGGGGGTGAGG	0.607000													20	156					4.87955e-14	8.12731e-14	0.693898	1	0
AHNAK2	113146	broad.mit.edu	37	14	105405203	105405203	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:105405203G>T	ENST00000333244.5	-	7	16704	c.16585C>A	c.(16585-16587)Cac>Aac	p.H5529N	AHNAK2_ENST00000557457.1_Missense_Mutation_p.H527N	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5529						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)			GCCTGCGTGTGGGGCTCTGGG	0.488000													10	35					1.33987e-11	2.10361e-11	0.361761	1	0
DGUOK	1716	broad.mit.edu	37	2	74184279	74184279	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:74184279G>T	ENST00000264093.4	+	5	704	c.619G>T	c.(619-621)Gcc>Tcc	p.A207S	DGUOK_ENST00000348222.1_Intron|DGUOK-AS1_ENST00000453103.1_RNA|DGUOK_ENST00000462685.1_Intron|DGUOK_ENST00000356837.6_Missense_Mutation_p.A185S	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	207					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						GTACCAGAGGGCCAGGGAGGA	0.517000													5	40					0.0381472	0.0397553	0.278610	1	0
POU6F2	11281	broad.mit.edu	37	7	39247215	39247215	+	Silent	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:39247215A>G	ENST00000518318.2	+	4	549	c.507A>G	c.(505-507)ctA>ctG	p.L169L	POU6F2_ENST00000559001.1_Silent_p.L161L|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Silent_p.L169L			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	169	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TGCAAAATCTACAAGGTAATC	0.502000													5	14					0	0	0.217242	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013143	73013143	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:73013143C>A	ENST00000308744.6	+	4	1281	c.1183C>A	c.(1183-1185)Cta>Ata	p.L395I	NPFFR2_ENST00000358749.3_Missense_Mutation_p.L293I|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000395999.1_Missense_Mutation_p.L296I	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	395					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CCTGTGGACTCTAATGATGCT	0.493000													10	59					0.000673444	0.000751445	0.361761	1	0
DPYD	1806	broad.mit.edu	37	1	97771841	97771841	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:97771841C>A	ENST00000370192.3	-	17	2171	c.2071G>T	c.(2071-2073)Gtg>Ttg	p.V691L	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	691					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ATGTTCCGCACCAGCTCTGGA	0.443000													25	148					1.33986e-20	2.51776e-20	0.681144	1	0
CDH5	1003	broad.mit.edu	37	16	66413446	66413446	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:66413446G>T	ENST00000341529.3	+	2	354	c.206G>T	c.(205-207)gGc>gTc	p.G69V	CDH5_ENST00000563425.2_Missense_Mutation_p.G69V	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	69	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CATCATGTAGGCAAGGTAAGG	0.537000													6	18					0.0293803	0.0306811	0.248553	1	0
SPTAN1	6709	broad.mit.edu	37	9	131347026	131347026	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:131347026C>G	ENST00000372739.3	+	18	2574	c.2464C>G	c.(2464-2466)Ctg>Gtg	p.L822V	SPTAN1_ENST00000358161.5_Missense_Mutation_p.L822V|SPTAN1_ENST00000372731.4_Missense_Mutation_p.L822V	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	822					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGTCCAGAATCTGCTAAAGAA	0.443000													13	89					0	0	0.479597	0	0
FAM178A	55719	broad.mit.edu	37	10	102684395	102684395	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:102684395G>T	ENST00000238961.3	+	5	1785	c.1637G>T	c.(1636-1638)cGc>cTc	p.R546L	FAM178A_ENST00000370271.3_Missense_Mutation_p.R546L|FAM178A_ENST00000370269.3_Missense_Mutation_p.R546L	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	546																	GGACCTTTGCGCTCAGAATAT	0.473000													16	116					8.00594e-06	9.87271e-06	0.557998	1	0
GABRA6	2559	broad.mit.edu	37	5	161128507	161128507	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:161128507C>A	ENST00000523217.1	+	9	1302	c.1060C>A	c.(1060-1062)Cct>Act	p.P354T	GABRA6_ENST00000274545.5_Missense_Mutation_p.P364T	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	364					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCCACAGCATCCTGACTCCAA	0.358000										TCGA Ovarian(5;0.080)			24	78					2.47511e-08	3.441e-08	0.729181	1	0
PRAMEF2	65122	broad.mit.edu	37	1	12919109	12919109	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:12919109T>C	ENST00000240189.2	+	2	332	c.245T>C	c.(244-246)cTg>cCg	p.L82P		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	82										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAAGCATTGCTGGAAGGGCTT	0.552000													21	386					0	0	0.870114	0	0
SLC1A3	6507	broad.mit.edu	37	5	36671254	36671254	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:36671254G>C	ENST00000265113.4	+	4	919	c.443G>C	c.(442-444)gGg>gCg	p.G148A	SLC1A3_ENST00000381918.3_Missense_Mutation_p.G148A|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	148					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)	ATCCATCCTGGGAAGGGCACA	0.473000													12	76					0	0	0.479597	0	0
SPACA4	171169	broad.mit.edu	37	19	49110449	49110449	+	Missense_Mutation	SNP	G	G	T	rs143774083	byFrequency	TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:49110449G>T	ENST00000321762.1	+	1	450	c.214G>T	c.(214-216)Ggc>Tgc	p.G72C	FAM83E_ENST00000263266.3_Intron	NM_133498.2	NP_598005.1	Q8TDM5	SACA4_HUMAN	sperm acrosome associated 4	72	UPAR/Ly6 1.				cell adhesion	acrosomal vesicle|anchored to membrane|plasma membrane				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	5		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;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CACCAGCTGCGGCCTTGAGGA	0.652000													7	28					7.48243e-07	9.66873e-07	0.335167	1	0
DDX56	54606	broad.mit.edu	37	7	44607779	44607779	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:44607779T>G	ENST00000258772.5	-	12	1533	c.1427A>C	c.(1426-1428)cAt>cCt	p.H476P	DDX56_ENST00000431640.1_Missense_Mutation_p.H436P|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	476					rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						AGGTAGGTCATGCCGCAGCAG	0.597000													3	66					0	0	0.115264	0	0
PXDN	7837	broad.mit.edu	37	2	1652675	1652675	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:1652675G>A	ENST00000252804.4	-	17	2927	c.2877C>T	c.(2875-2877)tgC>tgT	p.C959C		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	959					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CGTCCCGCATGCACTCCGTGG	0.726000													5	15					0	0	0.217242	0	0
OR5B3	441608	broad.mit.edu	37	11	58170427	58170427	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:58170427C>A	ENST00000309403.2	-	1	455	c.456G>T	c.(454-456)ctG>ctT	p.L152L		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGGAGGCATTCAGGAAACCAC	0.478000													11	70					3.27435e-08	4.50938e-08	0.457914	1	0
CENPF	1063	broad.mit.edu	37	1	214832293	214832293	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:214832293G>T	ENST00000366955.3	+	19	9231	c.9063G>T	c.(9061-9063)gcG>gcT	p.A3021A		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	3117	Sufficient for centromere localization.|Sufficient for nuclear localization.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGAAGTTAGCGCTATCCCCAC	0.522000											OREG0014250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	148					2.98393e-07	3.95034e-07	0.639603	1	0
DYNC1I1	1780	broad.mit.edu	37	7	95442597	95442597	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:95442597A>C	ENST00000324972.6	+	4	506	c.313A>C	c.(313-315)Act>Cct	p.T105P	DYNC1I1_ENST00000537881.1_Missense_Mutation_p.T88P|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.T88P|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.T88P|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.T105P|DYNC1I1_ENST00000413338.1_Missense_Mutation_p.T88P|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.T88P	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	105	Interaction with DCTN1 (By similarity).				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			ATCAGTGAGCACTCCCAGTGA	0.448000													20	72					0	0	0.575678	0	0
ANKRD33	341405	broad.mit.edu	37	12	52282888	52282888	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:52282888G>T	ENST00000301190.6	+	3	661	c.434G>T	c.(433-435)aGt>aTt	p.S145I	ANKRD33_ENST00000340970.4_Missense_Mutation_p.S10I|ANKRD33_ENST00000538991.1_Intron|ANKRD33_ENST00000547119.1_3'UTR	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	10										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GGCTTCCAGAGTGTTGTGGCC	0.627000													13	73					4.36969e-10	6.41847e-10	0.435327	1	0
WBP11P1	441818	broad.mit.edu	37	18	30092550	30092550	+	RNA	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:30092550T>C	ENST00000567636.1	+	0	925					NR_003558.1																						GTCATGATGATGATGTTTTTA	0.478000													17	166					0	0	0.557998	0	0
DEFB116	245930	broad.mit.edu	37	20	29896362	29896362	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:29896362C>T	ENST00000400549.1	-	1	26	c.27G>A	c.(25-27)atG>atA	p.M9I		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	9					defense response to bacterium	extracellular region				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGGCAATGGTCATTAAACAGG	0.493000													17	133					0	0	0.608945	0	0
PHTF1	10745	broad.mit.edu	37	1	114248517	114248517	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:114248517T>C	ENST00000369604.1	-	13	2149	c.1666A>G	c.(1666-1668)Aaa>Gaa	p.K556E	PHTF1_ENST00000357783.2_Missense_Mutation_p.K556E|PHTF1_ENST00000369596.2_Missense_Mutation_p.K503E|PHTF1_ENST00000369598.1_Missense_Mutation_p.K511E|PHTF1_ENST00000369600.1_Missense_Mutation_p.K503E|PHTF1_ENST00000393357.2_Missense_Mutation_p.K556E|PHTF1_ENST00000474926.1_5'UTR			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	556						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGACCTGTTTATATGTTCTC	0.303000													17	44					0	0	0.608945	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49965148	49965148	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:49965148G>A	ENST00000293350.4	+	7	930	c.767G>A	c.(766-768)cGt>cAt	p.R256H	ALDH16A1_ENST00000540132.1_Missense_Mutation_p.R93H|ALDH16A1_ENST00000455361.2_Intron|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.R91H	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	256							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		TAGGAAGGGCGTGCCCTTCGA	0.721000													4	5					0	0	0.184627	0	0
PLCD1	5333	broad.mit.edu	37	3	38050888	38050888	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:38050888T>A	ENST00000463876.1	-	10	1897	c.1544A>T	c.(1543-1545)gAc>gTc	p.D515V	PLCD1_ENST00000334661.4_Missense_Mutation_p.D494V	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	494	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		AATGACCATGTCAGAGAGCTC	0.577000													10	52					0	0	0.361761	0	0
SLC5A8	160728	broad.mit.edu	37	12	101560423	101560423	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:101560423C>A	ENST00000536262.2	-	12	1933	c.1375G>T	c.(1375-1377)Gga>Tga	p.G459*		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	459					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	p.G459R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATTTGAGCTCCAATTCCAACC	0.393000													6	20					8.12818e-05	9.4606e-05	0.248553	1	0
WNK2	65268	broad.mit.edu	37	9	96070746	96070746	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:96070746G>T	ENST00000297954.4	+	28	6507	c.6507G>T	c.(6505-6507)tgG>tgT	p.W2169C	WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.W1781C|WNK2_ENST00000395477.2_Missense_Mutation_p.W2132C|WNK2_ENST00000427277.2_Missense_Mutation_p.W1744C			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2169					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGGACGAGTGGACGAGCAAGA	0.647000													3	28					0.014758	0.0156261	0.184627	1	0
GRXCR1	389207	broad.mit.edu	37	4	42895328	42895328	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:42895328A>T	ENST00000399770.2	+	1	45	c.45A>T	c.(43-45)aaA>aaT	p.K15N		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	15					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GGCCACGGAAAGTCCGGTTTC	0.512000													7	128					0	0	0.307466	0	0
OR11H12	440153	broad.mit.edu	37	14	19378119	19378119	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:19378119G>T	ENST00000550708.1	+	1	598	c.526G>T	c.(526-528)Gtt>Ttt	p.V176F		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GATCCCCATTGTTCTCATCTC	0.493000													10	351					2.21704e-12	3.56533e-12	0.639603	1	0
GJA8	2703	broad.mit.edu	37	1	147381356	147381356	+	Missense_Mutation	SNP	G	G	A	rs150041151		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:147381356G>A	ENST00000240986.4	+	2	1327	c.1274G>A	c.(1273-1275)cGa>cAa	p.R425Q	GJA8_ENST00000369235.1_Missense_Mutation_p.R425Q	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	425					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	p.R425Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GCCAGCAGCCGAGCCAGGTCA	0.502000													11	53					0	0	0.457914	0	0
LYPLA2	11313	broad.mit.edu	37	1	24121030	24121030	+	Silent	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:24121030C>G	ENST00000374514.3	+	9	892	c.585C>G	c.(583-585)gtC>gtG	p.V195V	LYPLA2_ENST00000495365.1_3'UTR|LYPLA2_ENST00000374501.1_Silent_p.V128V|LYPLA2_ENST00000374503.3_Intron|LYPLA2_ENST00000400061.1_3'UTR|LYPLA2_ENST00000374505.2_3'UTR|LYPLA2_ENST00000374502.3_3'UTR	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II	195					fatty acid metabolic process	cytoplasm	hydrolase activity			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		GGTCTGTTGTCACACCTGCCA	0.617000													10	77					0	0	0.435327	0	0
OR6C3	254786	broad.mit.edu	37	12	55725851	55725851	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:55725851A>T	ENST00000379667.1	+	1	367	c.367A>T	c.(367-369)Atc>Ttc	p.I123F		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						CTATGTTGCCATCTGCAAGCC	0.448000													19	138					0	0	0.624587	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766876	77766876	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:77766876G>T	ENST00000521891.2	+	10	8167	c.7719G>T	c.(7717-7719)acG>acT	p.T2573T	ZFHX4_ENST00000518282.1_Silent_p.T2547T|ZFHX4_ENST00000455469.2_Silent_p.T2528T|ZFHX4_ENST00000050961.6_Silent_p.T2528T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2528						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCCCCACAACGGTTGCTGCTT	0.498000										HNSCC(33;0.089)			17	49					2.39187e-15	4.11012e-15	0.575678	1	0
SYNE1	23345	broad.mit.edu	37	6	152615155	152615155	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:152615155C>A	ENST00000367255.5	-	94	18391	c.17790G>T	c.(17788-17790)gaG>gaT	p.E5930D	SYNE1_ENST00000341594.5_Missense_Mutation_p.E5542D|SYNE1_ENST00000356820.4_Missense_Mutation_p.E454D|SYNE1_ENST00000265368.4_Missense_Mutation_p.E5930D|SYNE1_ENST00000423061.1_Missense_Mutation_p.E5859D|SYNE1_ENST00000448038.1_Missense_Mutation_p.E5859D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5930					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TAGCGGATGGCTCCAATCCCG	0.493000										HNSCC(10;0.0054)			16	107					1.87028e-06	2.37783e-06	0.608945	1	0
PIK3R5	23533	broad.mit.edu	37	17	8812396	8812396	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:8812396G>T	ENST00000447110.1	-	3	323	c.199C>A	c.(199-201)Cga>Aga	p.R67R	PIK3R5_ENST00000581552.1_Silent_p.R67R|PIK3R5_ENST00000584803.1_Silent_p.R67R	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	67	Heterodimerization (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CTCACCTCTCGGGTCTTCTGC	0.592000													9	13					2.68362e-12	4.30891e-12	0.411799	1	0
FOXRED2	80020	broad.mit.edu	37	22	36900577	36900577	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:36900577T>C	ENST00000397224.4	-	3	857	c.764A>G	c.(763-765)tAc>tGc	p.Y255C	FOXRED2_ENST00000397223.4_Missense_Mutation_p.Y255C|FOXRED2_ENST00000216187.6_Missense_Mutation_p.Y255C	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	255					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GTCTCCAACGTAGTGGGTGGC	0.592000													16	65					0	0	0.500413	0	0
CACNA1I	8911	broad.mit.edu	37	22	40068313	40068313	+	Splice_Site	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:40068313G>T	ENST00000336649.4	+	30	4667	c.4667_splice	c.e30+1	p.R1556_splice	CACNA1I_ENST00000402142.3_Splice_Site_p.R1550_splice|CACNA1I_ENST00000407673.1_Splice_Site_p.R1515_splice|CACNA1I_ENST00000400164.3_Splice_Site_p.R1515_splice|CACNA1I_ENST00000404898.1_Splice_Site_p.R1515_splice|CACNA1I_ENST00000401624.1_Splice_Site_p.R1550_splice			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1550					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TTCAAGGACCGGTGAGTGGCC	0.537000													6	257					1.12685e-05	1.37719e-05	0.307466	1	0
FMN2	56776	broad.mit.edu	37	1	240371570	240371570	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:240371570C>T	ENST00000319653.9	+	5	3688	c.3458C>T	c.(3457-3459)cCt>cTt	p.P1153L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1153	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGCATACCCCCTCCGCCCCCA	0.701000													11	83					0	0	0.804634	0	0
SPTBN4	57731	broad.mit.edu	37	19	41063310	41063310	+	Splice_Site	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:41063310G>A	ENST00000352632.3	+	26	5756		c.e26+1		SPTBN4_ENST00000598249.1_Splice_Site|SPTBN4_ENST00000338932.3_Splice_Site|SPTBN4_ENST00000595535.1_Splice_Site|SPTBN4_ENST00000392025.1_Splice_Site|SPTBN4_ENST00000392023.1_Splice_Site			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4						actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGTGTCCCAGGTGGGGCGCCG	0.657000													18	87					0	0	0.608945	0	0
RTCB	51493	broad.mit.edu	37	22	32795632	32795632	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:32795632G>A	ENST00000216038.5	-	6	710	c.612C>T	c.(610-612)ccC>ccT	p.P204P	RTCB_ENST00000451746.2_Intron|RTCB_ENST00000476619.1_5'UTR	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase																		AAACTTTATTGGGGTCAGCCT	0.478000													27	235					0	0	0.740014	0	0
UGT2B15	7366	broad.mit.edu	37	4	69519973	69519973	+	Splice_Site	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:69519973A>T	ENST00000338206.5	-	5	1104	c.1093_splice	c.e5-1	p.G365_splice		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	365					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TTTTGGGATGACCTAAAAGTG	0.378000													5	132					0	0	0.184627	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122348909	122348909	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:122348909C>A	ENST00000398248.1	+	3	612	c.260C>A	c.(259-261)cCt>cAt	p.P87H	PPAPDC1A_ENST00000398250.1_Silent_p.P237P|PPAPDC1A_ENST00000369073.3_Silent_p.P227P|PPAPDC1A_ENST00000439221.1_Silent_p.P174P			Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	0					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GCCATAAACCCTACGTTAGTC	0.557000													26	107					1.836e-18	3.36082e-18	0.788014	1	0
PREX1	57580	broad.mit.edu	37	20	47324815	47324815	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:47324815G>A	ENST00000396220.1	-	6	788	c.766C>T	c.(766-768)Cac>Tac	p.H256Y	PREX1_ENST00000371941.3_Missense_Mutation_p.H256Y			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	256					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCTTCGATGTGGGACTGCAGC	0.622000													26	116					0	0	0.693898	0	0
LINGO2	158038	broad.mit.edu	37	9	27950380	27950380	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:27950380T>A	ENST00000379992.2	-	6	739	c.290A>T	c.(289-291)gAa>gTa	p.E97V	LINGO2_ENST00000308675.3_Missense_Mutation_p.E97V	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	97						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TGCTCCTGGTTCCACATTGGC	0.453000													42	184					0	0	0.870114	0	0
KCNH2	3757	broad.mit.edu	37	7	150648845	150648845	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:150648845C>A	ENST00000392968.2	-	5	2468	c.1348G>T	c.(1348-1350)Ggc>Tgc	p.G450C	KCNH2_ENST00000330883.4_Missense_Mutation_p.G206C|KCNH2_ENST00000262186.5_Missense_Mutation_p.G546C|KCNH2_ENST00000430723.3_Missense_Mutation_p.G546C			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	546					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	ACGGCCGCGCCGTACTCTGAG	0.647000													21	56					5.35356e-11	8.18592e-11	0.639603	1	0
OR13J1	392309	broad.mit.edu	37	9	35870058	35870058	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:35870058A>T	ENST00000377981.2	-	1	403	c.341T>A	c.(340-342)cTa>cAa	p.L114Q		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GATGGCCAGTAGCAGGCACTC	0.612000													13	57					0	0	0.435327	0	0
SNHG14	104472715	broad.mit.edu	37	15	25468314	25468314	+	RNA	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:25468314C>A	ENST00000453082.2	+	0	862					NR_003343.1																						TTCCTGGCGCCCTGGTCTCCT	0.577000													12	43					2.27111e-07	3.01639e-07	0.411799	1	0
LPO	4025	broad.mit.edu	37	17	56326989	56326989	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:56326989A>G	ENST00000262290.4	+	6	822	c.506A>G	c.(505-507)gAg>gGg	p.E169G	LPO_ENST00000582328.1_Missense_Mutation_p.E86G|LPO_ENST00000421678.2_Missense_Mutation_p.E86G|LPO_ENST00000543544.1_Missense_Mutation_p.E110G	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	169					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GCGGAGTACGAGGACGGGCTC	0.721000													5	23					0	0	0.217242	0	0
COBL	23242	broad.mit.edu	37	7	51097172	51097172	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:51097172C>A	ENST00000395542.2	-	12	2051	c.1867G>T	c.(1867-1869)Gta>Tta	p.V623L	COBL_ENST00000265136.7_Missense_Mutation_p.V541L			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	541										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					ATGAATGTTACTGGGATTGCA	0.517000													17	78					3.45872e-05	4.15289e-05	0.500413	1	0
PTCH1	5727	broad.mit.edu	37	9	98229584	98229584	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:98229584C>A	ENST00000430669.2	-	15	2761	c.2176G>T	c.(2176-2178)Gct>Tct	p.A726S	PTCH1_ENST00000421141.1_Missense_Mutation_p.A641S|PTCH1_ENST00000331920.6_Missense_Mutation_p.A792S|PTCH1_ENST00000429896.2_Missense_Mutation_p.A641S|PTCH1_ENST00000418258.1_Missense_Mutation_p.A641S|PTCH1_ENST00000437951.1_Missense_Mutation_p.A726S|PTCH1_ENST00000375274.2_Missense_Mutation_p.A791S			Q13635	PTC1_HUMAN	patched 1	792					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AATTGTGCAGCAATAAAGTCA	0.473000													15	151					4.7546e-09	6.75654e-09	0.500413	1	0
CSMD2	114784	broad.mit.edu	37	1	34038145	34038145	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:34038145C>A	ENST00000373381.4	-	50	7899	c.7723G>T	c.(7723-7725)Ggc>Tgc	p.G2575C		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2577	Sushi 15.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTCCATAGGCCTGTGTCCAGA	0.587000													37	192					3.54909e-21	6.72459e-21	0.859065	1	0
HCK	3055	broad.mit.edu	37	20	30672333	30672333	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:30672333G>T	ENST00000534862.1	+	9	1125	c.762G>T	c.(760-762)ggG>ggT	p.G254G	HCK_ENST00000518730.1_Silent_p.G252G|HCK_ENST00000375862.2_Silent_p.G273G|HCK_ENST00000538448.1_Silent_p.G253G|HCK_ENST00000520553.1_Silent_p.G253G|HCK_ENST00000375852.2_Silent_p.G274G	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	274					interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGCAGTTTGGGGAAGTCTGGA	0.592000													16	58					7.45023e-12	1.18327e-11	0.592651	1	0
COL3A1	1281	broad.mit.edu	37	2	189856909	189856909	+	Splice_Site	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:189856909G>T	ENST00000304636.3	+	14	1121		c.e14-1		COL3A1_ENST00000317840.5_Splice_Site	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1						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)	TCTCTTTTTAGGGTGCTCGGG	0.378000													12	129					1.52009e-12	2.45222e-12	0.479597	1	0
DNAJC3	5611	broad.mit.edu	37	13	96415922	96415922	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr13:96415922G>A	ENST00000602402.1	+	8	991	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	DNAJC3_ENST00000376795.6_Missense_Mutation_p.E241K	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	292					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			CAGCAAATATGAATCTGTCAT	0.398000													8	67					0	0	0.307466	0	0
PTCRA	171558	broad.mit.edu	37	6	42883815	42883815	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:42883815G>T	ENST00000304672.1	+	1	89	c.8G>T	c.(7-9)gGt>gTt	p.G3V	PTCRA_ENST00000441198.1_Missense_Mutation_p.G3V|PTCRA_ENST00000446507.1_Missense_Mutation_p.G3V	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	3						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			GCCATGGCCGGTACATGGCTG	0.647000													19	123					1.37657e-19	2.5563e-19	0.608945	1	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959828	45959828	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr21:45959828G>A	ENST00000400375.1	-	1	250	c.206C>T	c.(205-207)tCa>tTa	p.S69L	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	69	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GGTGCAGCCTGATTGGCAGGG	0.716000													41	160					0	0	0.870114	0	0
ZNF777	27153	broad.mit.edu	37	7	149153028	149153028	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:149153028C>A	ENST00000247930.4	-	2	409	c.86G>T	c.(85-87)cGa>cTa	p.R29L		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CAGAGTTTCTCGGGGGAGTCC	0.547000													30	82					1.62565e-12	2.61839e-12	0.760397	1	0
FAM83H	286077	broad.mit.edu	37	8	144809040	144809040	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:144809040T>C	ENST00000388913.3	-	5	2716	c.2591A>G	c.(2590-2592)cAt>cGt	p.H864R		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	864					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TGACTCATTATGGAGCACCTG	0.622000													3	28					0	0	0.115264	0	0
ITGAV	3685	broad.mit.edu	37	2	187506124	187506124	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:187506124T>C	ENST00000261023.3	+	12	1242	c.968T>C	c.(967-969)gTg>gCg	p.V323A	ITGAV_ENST00000374907.3_Missense_Mutation_p.V287A|ITGAV_ENST00000433736.2_Missense_Mutation_p.V277A|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	323					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		TATGCAGATGTGTTTATTGGA	0.433000													14	44					0	0	0.457914	0	0
GPR63	81491	broad.mit.edu	37	6	97247458	97247458	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:97247458G>A	ENST00000229955.3	-	2	495	c.150C>T	c.(148-150)acC>acT	p.T50T	GPR63_ENST00000417980.1_Silent_p.T50T	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	50						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		TGGGAGCCATGGTTTCAAAAC	0.453000													11	55					0	0	0.479597	0	0
ODF2	4957	broad.mit.edu	37	9	131256901	131256901	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:131256901G>T	ENST00000303890.5	+	19	2378	c.1793G>T	c.(1792-1794)cGg>cTg	p.R598L	ODF2_ENST00000546203.1_Missense_Mutation_p.R603L|ODF2_ENST00000393533.2_Missense_Mutation_p.R622L|ODF2_ENST00000434106.2_Missense_Mutation_p.R622L|ODF2_ENST00000444119.2_Missense_Mutation_p.R598L|ODF2_ENST00000372814.3_Missense_Mutation_p.R666L|ODF2_ENST00000448249.3_Missense_Mutation_p.R541L|ODF2_ENST00000351030.3_Missense_Mutation_p.R617L|ODF2_ENST00000372807.5_Missense_Mutation_p.R617L|ODF2_ENST00000372796.4_Missense_Mutation_p.R622L|ODF2_ENST00000372791.3_Missense_Mutation_p.R603L	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	622					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GGCTATGAGCGGAAGAACATC	0.597000													5	131					5.9392e-07	7.72322e-07	0.217242	1	0
SLC14A2	8170	broad.mit.edu	37	18	43262346	43262346	+	Silent	SNP	G	G	T	rs140903111	by1000genomes	TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:43262346G>T	ENST00000255226.6	+	20	3441	c.2625G>T	c.(2623-2625)acG>acT	p.T875T	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000586448.1_Silent_p.T875T|SLC14A2_ENST00000589658.1_Silent_p.T352T	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	875						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGCTCCTGACGACCAATAACC	0.542000													52	325					1.7104e-27	3.44092e-27	0.870114	1	0
IPO7	10527	broad.mit.edu	37	11	9430161	9430161	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:9430161A>G	ENST00000379719.3	+	3	437	c.295A>G	c.(295-297)Att>Gtt	p.I99V		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	99	Importin N-terminal.				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TGTAGAAGCCATTATCCATTC	0.363000													12	53					0	0	0.457914	0	0
TCF25	22980	broad.mit.edu	37	16	89967134	89967134	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:89967134G>T	ENST00000263346.8	+	12	1369	c.1313G>T	c.(1312-1314)tGt>tTt	p.C438F	TCF25_ENST00000263347.7_Missense_Mutation_p.C203F	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	438					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CTCCCTGAGTGTGAGCAGAGC	0.592000													16	41					1.99824e-07	2.673e-07	0.520397	1	0
PIWIL3	440822	broad.mit.edu	37	22	25151807	25151807	+	Silent	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:25151807T>C	ENST00000332271.5	-	6	1052	c.636A>G	c.(634-636)aaA>aaG	p.K212K	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Silent_p.K103K|PIWIL3_ENST00000527701.1_Silent_p.K103K	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	212					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GCGTGAGTTCTTTGGAAAACT	0.388000													30	101					0	0	0.779181	0	0
GCNT4	51301	broad.mit.edu	37	5	74325039	74325039	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:74325039G>T	ENST00000322348.4	-	1	1685	c.824C>A	c.(823-825)cCt>cAt	p.P275H		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	275					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		ATATTCATAAGGCACCCGTCT	0.393000													17	77					2.39187e-15	4.11012e-15	0.575678	1	0
GLP1R	2740	broad.mit.edu	37	6	39046944	39046944	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:39046944C>A	ENST00000373256.4	+	10	1054	c.1011C>A	c.(1009-1011)gcC>gcA	p.A337A		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	337					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	AACTGAAGGCCAATCTCATGT	0.552000													29	200					3.80469e-20	7.11689e-20	0.740014	1	0
OR6N2	81442	broad.mit.edu	37	1	158747077	158747077	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:158747077C>A	ENST00000339258.1	-	1	348	c.349G>T	c.(349-351)Gcc>Tcc	p.A117S		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TAGGCCATGGCTGTAAGAAGG	0.478000													14	93					1.3612e-06	1.74248e-06	0.479597	1	0
HIST1H2BK	85236	broad.mit.edu	37	6	27114212	27114212	+	Silent	SNP	G	G	A	rs149349762		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:27114212G>A	ENST00000396891.4	-	1	407	c.366C>T	c.(364-366)taC>taT	p.Y122Y	HIST1H2BK_ENST00000356950.1_Silent_p.Y122Y	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	122					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TAGCGCTGGTGTACTTGGTGA	0.552000													26	97					0	0	0.760397	0	0
ARL14	80117	broad.mit.edu	37	3	160395421	160395421	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:160395421G>C	ENST00000320767.2	+	1	474	c.287G>C	c.(286-288)cGa>cCa	p.R96P		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	96					small GTPase mediated signal transduction	intracellular	GTP binding			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			GACAAACAGCGACTGGAAGAG	0.438000													4	98					0	0	0.150653	0	0
EPHA8	2046	broad.mit.edu	37	1	22913107	22913107	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:22913107C>A	ENST00000166244.3	+	4	1030	c.958C>A	c.(958-960)Ccg>Acg	p.P320T	EPHA8_ENST00000374644.4_Missense_Mutation_p.P320T|EPHA8_ENST00000538803.1_Missense_Mutation_p.P320T	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	320	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.P320S(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGCCCTGGACCCGCCGTCCTC	0.677000													21	83					1.26454e-06	1.62076e-06	0.693898	1	0
AGPAT9	84803	broad.mit.edu	37	4	84509401	84509401	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:84509401G>T	ENST00000395226.2	+	6	811	c.593G>T	c.(592-594)tGc>tTc	p.C198F	AGPAT9_ENST00000264409.4_Missense_Mutation_p.C198F	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	198					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CATCTGACTTGCTGCCGGATC	0.418000													5	205					3.59834e-05	4.28791e-05	0.217242	1	0
TAOK1	57551	broad.mit.edu	37	17	27825486	27825486	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:27825486A>T	ENST00000261716.3	+	12	1669	c.1150A>T	c.(1150-1152)Atg>Ttg	p.M384L	TAOK1_ENST00000536202.1_Missense_Mutation_p.M384L	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	384					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GCTAGACATGATGGAGGGAGA	0.408000													50	139					0	0	0.870114	0	0
GRM3	2913	broad.mit.edu	37	7	86479847	86479847	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:86479847C>T	ENST00000439827.1	+	4	1657	c.1486C>T	c.(1486-1488)Cac>Tac	p.H496Y	GRM3_ENST00000546348.1_Silent_p.T443T|GRM3_ENST00000536043.1_Silent_p.T723T|GRM3_ENST00000361669.2_Silent_p.T851T|GRM3_ENST00000394720.2_Missense_Mutation_p.H494Y			Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	0					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GAACTGGGACCACATACTCTC	0.478000													18	116					0	0	0.624587	0	0
USH2A	7399	broad.mit.edu	37	1	215802354	215802354	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:215802354G>T	ENST00000366943.2	-	72	15779	c.15393C>A	c.(15391-15393)ccC>ccA	p.P5131P	USH2A_ENST00000307340.3_Silent_p.P5107P			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5107					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCCAGACCGGGGAATTTTGG	0.488000										HNSCC(13;0.011)			21	150					1.30897e-18	2.40682e-18	0.740014	1	0
CNTLN	54875	broad.mit.edu	37	9	17135215	17135215	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:17135215A>G	ENST00000380647.3	+	1	236	c.152A>G	c.(151-153)gAc>gGc	p.D51G	CNTLN_ENST00000380641.4_Missense_Mutation_p.D51G|CNTLN_ENST00000484374.1_3'UTR|CNTLN_ENST00000262360.5_Missense_Mutation_p.D51G|CNTLN_ENST00000425824.1_Missense_Mutation_p.D51G			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	51						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GTGGTCGCGGACGAAAGTGAT	0.692000													8	14					0	0	0.387290	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70667789	70667789	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:70667789G>T	ENST00000260126.3	-	4	1834	c.1128C>A	c.(1126-1128)caC>caA	p.H376Q	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.H376Q|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.H376Q	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	376						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCTTTTTCTTGTGTCGAGGTG	0.363000													5	21					3.59834e-05	4.28791e-05	0.217242	1	0
DSC2	1824	broad.mit.edu	37	18	28659876	28659876	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:28659876C>A	ENST00000280904.6	-	11	2043	c.1600G>T	c.(1600-1602)Gat>Tat	p.D534Y	DSC2_ENST00000251081.6_Missense_Mutation_p.D534Y	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	534	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GCCTCTCTATCCAGGCTTCTG	0.368000													7	125					5.4927e-09	7.78386e-09	0.307466	1	0
CCDC129	223075	broad.mit.edu	37	7	31617613	31617613	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:31617613C>T	ENST00000409210.1	+	6	643	c.459C>T	c.(457-459)gcC>gcT	p.A153A	CCDC129_ENST00000407970.3_Silent_p.A245A|CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000451887.2_Silent_p.A271A			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	245										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CAGTGAGTGCCGCCAAAGAGC	0.493000													5	36					0	0	0.248553	0	0
MSR1	4481	broad.mit.edu	37	8	16032708	16032708	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:16032708C>A	ENST00000350896.3	-	3	402	c.205G>T	c.(205-207)Gga>Tga	p.G69*	MSR1_ENST00000445506.2_Nonsense_Mutation_p.G87*|MSR1_ENST00000355282.2_Nonsense_Mutation_p.G69*|MSR1_ENST00000262101.5_Nonsense_Mutation_p.G69*|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000381998.4_Nonsense_Mutation_p.G69*	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	69					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GCCACTATTCCAATGAGAGGG	0.418000													15	74					8.28177e-16	1.44263e-15	0.557998	1	0
ATP2C1	27032	broad.mit.edu	37	3	130650866	130650866	+	Splice_Site	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:130650866G>T	ENST00000510168.1	+	4	668	c.117_splice	c.e4-1	p.A40_splice	ATP2C1_ENST00000513801.1_Splice_Site_p.A24_splice|ATP2C1_ENST00000393221.4_Splice_Site_p.A74_splice|ATP2C1_ENST00000359644.3_Splice_Site_p.A40_splice|ATP2C1_ENST00000428331.2_Splice_Site_p.A40_splice|ATP2C1_ENST00000328560.8_Splice_Site_p.A40_splice|ATP2C1_ENST00000505330.1_Splice_Site_p.A24_splice|ATP2C1_ENST00000504948.1_Splice_Site_p.A24_splice|ATP2C1_ENST00000507488.2_Splice_Site_p.A24_splice|ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000533801.2_Intron|ATP2C1_ENST00000422190.2_Splice_Site_p.A40_splice|ATP2C1_ENST00000508532.1_Splice_Site_p.A40_splice			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	40					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	ACTCTAATAGGCTGATCTTCA	0.328000									Hailey-Hailey disease				6	50					0.0215528	0.0226801	0.217242	1	0
DLGAP2	9228	broad.mit.edu	37	8	1574943	1574943	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:1574943G>T	ENST00000421627.2	+	4	1374	c.1240G>T	c.(1240-1242)Gga>Tga	p.G414*		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	493					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGTGCCTGTGGGACACAGCCT	0.602000													4	13					2.0095e-06	2.53909e-06	0.248553	1	0
BSN	8927	broad.mit.edu	37	3	49693344	49693344	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:49693344G>T	ENST00000296452.4	+	5	6469	c.6355G>T	c.(6355-6357)Ggt>Tgt	p.G2119C		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2119					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TGGCAGTGGTGGTGGTGGCCC	0.637000													18	92					1.50039e-11	2.34308e-11	0.608945	1	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	99023382	99023382	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:99023382C>A	ENST00000453547.2	-	4	407	c.408G>T	c.(406-408)ttG>ttT	p.L136F	ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.L136F|ARHGAP19_ENST00000358531.4_Missense_Mutation_p.L136F|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.L127F|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.L127F|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.L136F																							CCTCTACTCGCAAGTCTGTTT	0.378000													21	86					1.1804e-14	1.99356e-14	0.667858	1	0
MFSD2A	84879	broad.mit.edu	37	1	40434081	40434081	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:40434081C>T	ENST00000372809.5	+	12	1466	c.1323C>T	c.(1321-1323)ttC>ttT	p.F441F	MFSD2A_ENST00000420632.2_Silent_p.F272F|MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000372811.5_Silent_p.F428F	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	441					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CCATCTTCTTCTCCTTCTATG	0.552000													4	47					0	0	0.184627	0	0
ADAM29	11086	broad.mit.edu	37	4	175896789	175896789	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:175896789G>T	ENST00000359240.3	+	5	783	c.113G>T	c.(112-114)aGg>aTg	p.R38M	ADAM29_ENST00000445694.1_Missense_Mutation_p.R38M|ADAM29_ENST00000514159.1_Missense_Mutation_p.R38M|ADAM29_ENST00000404450.4_Missense_Mutation_p.R38M	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	38					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ATTCCTGTGAGGATAACTGGC	0.532000													14	51					8.60227e-14	1.42814e-13	0.500413	1	0
COL15A1	1306	broad.mit.edu	37	9	101825333	101825333	+	Splice_Site	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:101825333C>A	ENST00000375001.3	+	39	4016	c.3591_splice	c.e39-1	p.P1198_splice		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1198	Nonhelical region 10 (NC10).				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)				TCATAACAGCCACATCAGCTT	0.378000													4	69					0.27861	0.281769	0.278610	1	0
RPL3L	6123	broad.mit.edu	37	16	2004081	2004081	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:2004081C>A	ENST00000268661.7	-	2	166	c.72G>T	c.(70-72)cgG>cgT	p.R24R		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	24					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						TGCCCCGGTGCCGGTGGCTCC	0.682000													4	6					0.00024832	0.000283873	0.150653	1	0
CGB1	114335	broad.mit.edu	37	19	49539530	49539530	+	Missense_Mutation	SNP	C	C	A	rs147731004		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:49539530C>A	ENST00000301407.7	-	2	144	c.40G>T	c.(40-42)Ggc>Tgc	p.G14C	CGB1_ENST00000391869.3_Missense_Mutation_p.G14C|CTB-60B18.6_ENST00000591656.1_Intron	NM_033377.1	NP_203695.2	A6NKQ9	CGB1_HUMAN	chorionic gonadotropin, beta polypeptide 1	46						extracellular region	hormone activity			liver(1)|lung(1)	2		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CATGTCCCGCCCATGCTCAGC	0.662000													22	116					1.12875e-08	1.58319e-08	0.706142	1	0
SIGLEC9	27180	broad.mit.edu	37	19	51629054	51629054	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:51629054G>T	ENST00000440804.3	+	2	689	c.622G>T	c.(622-624)Ggc>Tgc	p.G208C	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.G208C	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	208	Ig-like C2-type 1.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CCAGGACCATGGCACCAGCCT	0.657000													23	126					2.44723e-14	4.10271e-14	0.681144	1	0
SALL3	27164	broad.mit.edu	37	18	76754062	76754062	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:76754062C>A	ENST00000536229.3	+	1	2381	c.1672C>A	c.(1672-1674)Cag>Aag	p.Q558K	SALL3_ENST00000537592.2_Missense_Mutation_p.Q691K|SALL3_ENST00000575389.2_Missense_Mutation_p.Q691K			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	691					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)		GCTGAGCTGCCAGAGCGCGCT	0.617000													7	32					2.17888e-05	2.62694e-05	0.335167	1	0
MXRA5	25878	broad.mit.edu	37	X	3238890	3238890	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:3238890G>T	ENST00000217939.6	-	5	4990	c.4836C>A	c.(4834-4836)ccC>ccA	p.P1612P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1612						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTGGTAGGATGGGTTTGGCAG	0.498000													29	46					9.17885e-22	1.7456e-21	0.779181	1	0
CLEC6A	93978	broad.mit.edu	37	12	8628832	8628832	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:8628832G>T	ENST00000382073.3	+	5	667	c.481G>T	c.(481-483)Gtc>Ttc	p.V161F		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	161	C-type lectin.				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					tgagaaaaatgtcaggtGAGT	0.358000													18	70					1.96292e-10	2.91878e-10	0.592651	1	0
MRPL50	54534	broad.mit.edu	37	9	104160869	104160869	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:104160869C>A	ENST00000374865.4	-	1	27	c.6G>T	c.(4-6)gcG>gcT	p.A2A	MRPL50_ENST00000539624.1_Silent_p.A2A	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	2						mitochondrion|ribosome				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				CAGATCGCGCCGCCATCTTCG	0.542000													31	94					2.48696e-23	4.81892e-23	0.779181	1	0
GAB3	139716	broad.mit.edu	37	X	153941577	153941577	+	Silent	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:153941577T>C	ENST00000369575.3	-	3	529	c.498A>G	c.(496-498)gtA>gtG	p.V166V	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Silent_p.V167V	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	166										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCTCAGTGGCTACGGCATTAG	0.537000													26	71					0	0	0.706142	0	0
TSNARE1	203062	broad.mit.edu	37	8	143395758	143395758	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:143395758C>A	ENST00000519651.1	-	7	561	c.458G>T	c.(457-459)aGg>aTg	p.R153M	TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000307180.3_Missense_Mutation_p.R373M|TSNARE1_ENST00000524325.1_Missense_Mutation_p.R372M|TSNARE1_ENST00000520166.1_Missense_Mutation_p.R372M			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	373					vesicle-mediated transport	integral to membrane		p.R373M(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TTTACTGCCCCTCTGCGCCAT	0.547000													10	34					7.05477e-17	1.25445e-16	0.520397	1	0
COL11A2	1302	broad.mit.edu	37	6	33135085	33135085	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:33135085C>T	ENST00000341947.2	-	57	4359	c.4132G>A	c.(4132-4134)Ggc>Agc	p.G1378S	COL11A2_ENST00000357486.1_Missense_Mutation_p.G1357S|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1292S|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1297S|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1352S|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1271S|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1331S|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1318S|COL11A2_ENST00000477772.1_Intron	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1378	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCAGGTCGGCCTTGCTGACCC	0.672000													20	71					0	0	0.608945	0	0
TFAP2D	83741	broad.mit.edu	37	6	50683253	50683253	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:50683253G>A	ENST00000008391.3	+	2	692	c.464G>A	c.(463-465)gGa>gAa	p.G155E		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	155							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TCTCAGTATGGAATGCACCCA	0.617000													19	143					0	0	0.654019	0	0
FGF21	26291	broad.mit.edu	37	19	49261225	49261225	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:49261225G>A	ENST00000593756.1	+	4	950	c.378G>A	c.(376-378)ctG>ctA	p.L126L	FGF21_ENST00000222157.3_Silent_p.L126L			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	126					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TCCGGGAGCTGCTTCTTGAGG	0.587000													44	331					0	0	0.870114	0	0
KY	339855	broad.mit.edu	37	3	134362165	134362165	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:134362165G>A	ENST00000423778.2	-	3	316	c.255C>T	c.(253-255)aaC>aaT	p.N85N	KY_ENST00000503669.1_Silent_p.N85N|KY_ENST00000508956.1_Intron	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	85						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						TACCTTGGCTGTTGTAGGAAG	0.567000													13	42					0	0	0.479597	0	0
EPGN	255324	broad.mit.edu	37	4	75174855	75174855	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:75174855C>T	ENST00000413830.1	+	2	150	c.89C>T	c.(88-90)cCa>cTa	p.P30L	EPGN_ENST00000509145.1_Intron|EPGN_ENST00000503098.1_Missense_Mutation_p.P30L|EPGN_ENST00000514968.1_Missense_Mutation_p.P30L|EPGN_ENST00000332112.4_Missense_Mutation_p.P30L|EPGN_ENST00000502358.1_Missense_Mutation_p.P30L|EPGN_ENST00000505212.1_Missense_Mutation_p.P30L	NM_001270989.1	NP_001257918.1	Q6UW88	EPGN_HUMAN	epithelial mitogen	30					activation of MAPK activity|angiogenesis|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	extracellular region|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity			breast(3)|liver(1)|lung(1)|skin(1)	6			Lung(101;0.196)			GTAACACCTCCAATCACAGCC	0.428000													32	223					0	0	0.834066	0	0
PTPRD	5789	broad.mit.edu	37	9	8331618	8331618	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:8331618T>C	ENST00000381196.4	-	41	6041	c.5498A>G	c.(5497-5499)cAg>cGg	p.Q1833R	PTPRD_ENST00000397617.3_Missense_Mutation_p.Q1426R|PTPRD_ENST00000540109.1_Missense_Mutation_p.Q1833R|PTPRD_ENST00000360074.4_Missense_Mutation_p.Q1820R|PTPRD_ENST00000537002.1_Missense_Mutation_p.Q1423R|PTPRD_ENST00000358503.5_Missense_Mutation_p.Q1811R|PTPRD_ENST00000486161.1_Missense_Mutation_p.Q1426R|PTPRD_ENST00000356435.5_Missense_Mutation_p.Q1833R|PTPRD_ENST00000355233.5_Missense_Mutation_p.Q1427R|PTPRD_ENST00000397606.3_Missense_Mutation_p.Q1426R|PTPRD_ENST00000397611.3_Missense_Mutation_p.Q1423R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1833	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTGGCCAAACTGTTCTTTTGT	0.438000										TSP Lung(15;0.13)			12	122					0	0	0.479597	0	0
CR2	1380	broad.mit.edu	37	1	207640001	207640001	+	Silent	SNP	A	A	G	rs34486455	byFrequency	TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:207640001A>G	ENST00000367057.3	+	2	378	c.189A>G	c.(187-189)ctA>ctG	p.L63L	CR2_ENST00000367059.3_Silent_p.L63L|CR2_ENST00000367058.3_Silent_p.L63L|CR2_ENST00000458541.2_Silent_p.L63L	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	63	Sushi 1.				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						AAAAAAGTCTATTATGCATAA	0.398000													14	73					0	0	0.479597	0	0
FLRT2	23768	broad.mit.edu	37	14	86088879	86088879	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:86088879G>T	ENST00000330753.4	+	2	1788	c.1021G>T	c.(1021-1023)Ggt>Tgt	p.G341C	FLRT2_ENST00000554746.1_Missense_Mutation_p.G341C	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	341	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CATGTGCCAAGGTCCTGAACA	0.517000													62	177					2.44918e-20	4.5981e-20	0.870114	1	0
ATRX	546	broad.mit.edu	37	X	76907720	76907720	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:76907720G>T	ENST00000373344.5	-	15	4655	c.4441C>A	c.(4441-4443)Cgg>Agg	p.R1481R	ATRX_ENST00000395603.3_Silent_p.R1443R|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1481					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AGAATCTTCCGAATTTTCTTT	0.438000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						30	91					1.58521e-26	3.16424e-26	0.812448	1	0
PDE10A	10846	broad.mit.edu	37	6	165749654	165749654	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:165749654G>A	ENST00000366882.1	-	22	2349	c.2195C>T	c.(2194-2196)aCc>aTc	p.T732I	PDE10A_ENST00000539869.2_Missense_Mutation_p.T742I|PDE10A_ENST00000354448.4_Missense_Mutation_p.T732I			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	732					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GAGGATCTGGGTAAGGGTTGT	0.463000													13	53					0	0	0.520397	0	0
NXPH2	11249	broad.mit.edu	37	2	139428798	139428798	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:139428798G>T	ENST00000272641.3	-	2	595	c.489C>A	c.(487-489)ccC>ccA	p.P163P		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	163	III.				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		CCACCTTGGAGGGTGGTACCA	0.448000													6	29					1.6384e-10	2.45222e-10	0.248553	1	0
COL3A1	1281	broad.mit.edu	37	2	189859448	189859448	+	Splice_Site	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:189859448A>T	ENST00000304636.3	+	20	1517		c.e20-1		COL3A1_ENST00000317840.5_Splice_Site	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1						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)	TTTTTTTTTCAGGGTGAGGCT	0.383000													3	24					0	0	0.115264	0	0
SNRPN	6638	broad.mit.edu	37	15	25222033	25222033	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:25222033G>T	ENST00000444203.2	+	5	1328	c.289G>T	c.(289-291)Gct>Tct	p.A97S	SNRPN_ENST00000390687.4_Missense_Mutation_p.A93S|SNRPN_ENST00000554227.2_Missense_Mutation_p.A97S|SNRPN_ENST00000400097.1_Missense_Mutation_p.A93S|SNRPN_ENST00000577565.1_Missense_Mutation_p.A93S|SNRPN_ENST00000346403.6_Missense_Mutation_p.A93S|SNRPN_ENST00000400098.1_Missense_Mutation_p.A93S|SNRPN_ENST00000400100.1_Missense_Mutation_p.A93S|SNURF_ENST00000338094.6_3'UTR			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	93					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)		GACTGGCATTGCTCGGGTACC	0.493000									Prader-Willi syndrome				17	93					1.96895e-08	2.74103e-08	0.639603	1	0
SYNPO2	171024	broad.mit.edu	37	4	119944630	119944630	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:119944630G>A	ENST00000307142.4	+	2	347	c.151G>A	c.(151-153)Gat>Aat	p.D51N	SYNPO2_ENST00000434046.2_Missense_Mutation_p.D51N|SYNPO2_ENST00000448416.2_Missense_Mutation_p.D51N|SYNPO2_ENST00000429713.2_Missense_Mutation_p.D51N	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	51	PDZ.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTGTGAGGGAGATGAAGTGGT	0.423000													17	57					0	0	0.557998	0	0
TBX4	9496	broad.mit.edu	37	17	59560359	59560359	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:59560359G>T	ENST00000393853.4	+	9	1286	c.1123G>T	c.(1123-1125)Gac>Tac	p.D375Y	TBX4_ENST00000240335.1_Missense_Mutation_p.D374Y|TBX4_ENST00000589449.1_3'UTR			P57082	TBX4_HUMAN	T-box 4	374					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CCCTCCCTACGACCAGCAAAT	0.597000													13	69					6.72482e-11	1.02293e-10	0.479597	1	0
CCDC89	220388	broad.mit.edu	37	11	85397123	85397123	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:85397123C>T	ENST00000316398.3	-	1	197	c.51G>A	c.(49-51)ccG>ccA	p.P17P		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	17						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTTCAGGGGGCGGGGTGTCCA	0.522000													6	80					0	0	0.248553	0	0
WDR60	55112	broad.mit.edu	37	7	158715095	158715095	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:158715095C>G	ENST00000407559.3	+	16	2107	c.1949C>G	c.(1948-1950)tCc>tGc	p.S650C		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	650										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TTGCACACCTCCCGAGTTCAG	0.468000													7	101					0	0	0.335167	0	0
DNAJC27	51277	broad.mit.edu	37	2	25174424	25174424	+	Splice_Site	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:25174424C>G	ENST00000264711.2	-	6	718		c.e6-1		DNAJC27_ENST00000534855.1_Splice_Site	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27						protein folding|small GTPase mediated signal transduction		GTP binding|heat shock protein binding|unfolded protein binding	p.?(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TATAAAAGGTCTACAAGAAGA	0.358000													5	19					0	0	0.217242	0	0
GALNT14	79623	broad.mit.edu	37	2	31215802	31215802	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:31215802C>G	ENST00000349752.5	-	2	840	c.201G>C	c.(199-201)tgG>tgC	p.W67C	GALNT14_ENST00000420311.2_Missense_Mutation_p.W32C|GALNT14_ENST00000406653.1_Missense_Mutation_p.W47C|GALNT14_ENST00000356174.3_Missense_Mutation_p.W67C|GALNT14_ENST00000324589.5_Intron	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	67						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)					CACCAACGCGCCACTTTTTGG	0.577000													17	68					0	0	0.592651	0	0
RPUSD2	27079	broad.mit.edu	37	15	40866103	40866103	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:40866103G>A	ENST00000315616.7	+	3	1319	c.1281G>A	c.(1279-1281)gtG>gtA	p.V427V	RPUSD2_ENST00000559271.1_Silent_p.V366V	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	427					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		GCCTGGATGTGCTAGATCTCT	0.607000													18	67					0	0	0.539581	0	0
LYST	1130	broad.mit.edu	37	1	235929520	235929520	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:235929520T>A	ENST00000389794.3	-	21	6154	c.5980A>T	c.(5980-5982)Aaa>Taa	p.K1994*	LYST_ENST00000389793.2_Nonsense_Mutation_p.K1994*|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1994					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GCTATAATTTTCACAAATGAT	0.358000													42	230					0	0	0.870114	0	0
GPR149	344758	broad.mit.edu	37	3	154146573	154146573	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:154146573C>A	ENST00000389740.2	-	1	931	c.832G>T	c.(832-834)Ggt>Tgt	p.G278C		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	278						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCGGGCGCACCCGGTCCGAAC	0.677000													5	40					3.09899e-07	4.08421e-07	0.307466	1	0
RAPGEF6	51735	broad.mit.edu	37	5	130797465	130797465	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:130797465G>T	ENST00000509018.1	-	19	3002	c.2797C>A	c.(2797-2799)Cat>Aat	p.H933N	RAPGEF6_ENST00000507093.1_Missense_Mutation_p.H933N|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.H938N|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.H648N|FNIP1_ENST00000514667.1_Missense_Mutation_p.H983N|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.H933N|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.H933N	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	933	Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TTAATAAAATGCTTAATAATC	0.328000													8	21					0.000274275	0.000312327	0.307466	1	0
RUNX1T1	862	broad.mit.edu	37	8	93023240	93023240	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:93023240G>A	ENST00000523629.1	-	5	1002	c.548C>T	c.(547-549)cCa>cTa	p.P183L	RUNX1T1_ENST00000521553.1_Missense_Mutation_p.P146L|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.P156L|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.P146L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.P194L|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.P156L|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.P146L|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.P183L|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.P146L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	183	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P183R(1)|p.P146R(1)|p.P194R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTTCAAAAATGGGATGACAAA	0.363000													14	125					0	0	0.575678	0	0
RNASEH2B	79621	broad.mit.edu	37	13	51517456	51517456	+	Splice_Site	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr13:51517456G>T	ENST00000336617.3	+	6	835		c.e6-1		RNASEH2B_ENST00000422660.1_Splice_Site|RNASEH2B_ENST00000495244.2_Splice_Site	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B						RNA catabolic process	nucleus|ribonuclease H2 complex				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		TTTCTTTTAAGGTAATCCAGA	0.294000													4	39					0.014758	0.0156261	0.184627	1	0
GUCY2C	2984	broad.mit.edu	37	12	14834321	14834321	+	Silent	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:14834321A>G	ENST00000261170.3	-	5	838	c.702T>C	c.(700-702)gaT>gaC	p.D234D	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	234					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CCATTAAGATATCCTGAAACT	0.398000													13	41					0	0	0.479597	0	0
VPS13D	55187	broad.mit.edu	37	1	12343629	12343629	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:12343629C>G	ENST00000358136.3	+	21	5600	c.5470C>G	c.(5470-5472)Caa>Gaa	p.Q1824E	VPS13D_ENST00000356315.4_Missense_Mutation_p.Q1824E	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1824					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GATCACACTGCAAACCTGGGT	0.443000													4	209					0	0	0.184627	0	0
CNTLN	54875	broad.mit.edu	37	9	17395056	17395056	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:17395056G>T	ENST00000380647.3	+	15	2688	c.2604G>T	c.(2602-2604)gtG>gtT	p.V868V	CNTLN_ENST00000262360.5_Silent_p.V868V|CNTLN_ENST00000425824.1_Silent_p.V868V			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	868						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GGGAGGATGTGAGTGAAAGCA	0.458000													15	59					2.94398e-08	4.07354e-08	0.557998	1	0
FGA	2243	broad.mit.edu	37	4	155505870	155505870	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:155505870C>T	ENST00000302053.3	-	6	2085	c.2007G>A	c.(2005-2007)ttG>ttA	p.L669L		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	669	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GCCATCCTCCCAAACTGGTCT	0.448000													12	55					0	0	0.411799	0	0
PXDNL	137902	broad.mit.edu	37	8	52258427	52258427	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:52258427C>G	ENST00000356297.4	-	20	4082	c.3982G>C	c.(3982-3984)Gat>Cat	p.D1328H	PXDNL_ENST00000543296.1_Intron	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1328					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.D1328Y(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATATCCTTATCAACAGGATAG	0.388000													11	41					0	0	0.411799	0	0
KCNA3	3738	broad.mit.edu	37	1	111217273	111217273	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:111217273C>A	ENST00000369769.2	-	1	382	c.159G>T	c.(157-159)atG>atT	p.M53I		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	53						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCACCACGGTCATGTCGGGCG	0.766000													3	19					0.00909568	0.00968067	0.150653	1	0
GPR1	2825	broad.mit.edu	37	2	207041372	207041372	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:207041372C>A	ENST00000407325.2	-	3	962	c.600G>T	c.(598-600)ttG>ttT	p.L200F	GPR1_ENST00000437420.1_Missense_Mutation_p.L200F	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	200						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		GGTGCCTGATCAAAGTGAGGT	0.418000													12	74					0.000219431	0.000252395	0.457914	1	0
SRRM3	222183	broad.mit.edu	37	7	75894698	75894698	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:75894698C>A	ENST00000388802.4	+	10	951	c.742C>A	c.(742-744)Cca>Aca	p.P248T	SRRM3_ENST00000326382.8_Missense_Mutation_p.P248T					serine/arginine repetitive matrix 3											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						CACAGAGTCCCCAGGCCGGAG	0.647000													18	101					2.41591e-17	4.32587e-17	0.681144	1	0
SLC17A6	57084	broad.mit.edu	37	11	22399132	22399132	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:22399132C>A	ENST00000263160.3	+	12	2032	c.1595C>A	c.(1594-1596)aCt>aAt	p.T532N		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	532					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GGGGACATTACTCAAAATTAT	0.418000													4	36					0.184627	0.187367	0.184627	1	0
CDCP2	200008	broad.mit.edu	37	1	54605349	54605349	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:54605349G>A	ENST00000371330.1	-	4	2041	c.1194C>T	c.(1192-1194)tcC>tcT	p.S398S	CDCP2_ENST00000530059.1_Intron	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	398						extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GTGGGATGGAGGAAGGAGACT	0.602000													14	50					0	0	0.539581	0	0
EPHB1	2047	broad.mit.edu	37	3	134670447	134670447	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:134670447G>T	ENST00000398015.3	+	3	728	c.358G>T	c.(358-360)Gtc>Ttc	p.V120F	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	120						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GACTGACTCTGTCATTGCCAC	0.527000													23	99					9.04412e-07	1.16209e-06	0.681144	1	0
SPON1	10418	broad.mit.edu	37	11	14157006	14157006	+	RNA	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:14157006C>T	ENST00000310358.7	+	0	1252							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GAGGATCCCACTCCAAGAATT	0.512000													19	127					0	0	0.624587	0	0
SNX4	8723	broad.mit.edu	37	3	125223524	125223524	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:125223524G>C	ENST00000251775.4	-	2	230	c.206C>G	c.(205-207)aCt>aGt	p.T69S	SNX4_ENST00000473417.1_5'UTR|SNX4_ENST00000536067.1_Intron	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	69	PX.				cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						ATTTCTTCCAGTTCGTTTTTC	0.358000													8	41					0	0	0.278610	0	0
MIOS	54468	broad.mit.edu	37	7	7612140	7612140	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:7612140C>A	ENST00000340080.4	+	4	455	c.34C>A	c.(34-36)Cca>Aca	p.P12T	MIOS_ENST00000405785.1_Missense_Mutation_p.P12T	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	12										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTTATGGGCACCACACCATGT	0.368000													3	35					6.4e-05	7.50611e-05	0.115264	1	0
TIAM1	7074	broad.mit.edu	37	21	32585770	32585770	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr21:32585770C>T	ENST00000286827.3	-	11	2632	c.2161G>A	c.(2161-2163)Gaa>Aaa	p.E721K	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	721					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TTTACAGCTTCGGTTCCCTCT	0.408000													15	84					0	0	0.539581	0	0
SERPING1	710	broad.mit.edu	37	11	57373651	57373651	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:57373651C>G	ENST00000403558.1	+	4	1322	c.956C>G	c.(955-957)aCc>aGc	p.T319S	SERPING1_ENST00000378323.4_Missense_Mutation_p.T290S|SERPING1_ENST00000378324.2_Missense_Mutation_p.T233S|SERPING1_ENST00000340687.6_Missense_Mutation_p.T285S|SERPING1_ENST00000278407.4_Missense_Mutation_p.T285S	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	285				HFKNSVI -> QLQKLSY (in Ref. 19; AA sequence).	blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CCCTCCGATACCCGCCTTGTC	0.542000													17	209					0	0	0.654019	0	0
CDH9	1007	broad.mit.edu	37	5	26881303	26881303	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:26881303C>A	ENST00000231021.4	-	12	2484	c.2312G>T	c.(2311-2313)gGg>gTg	p.G771V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	771					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						GAAACGAGGCCCCCAGTCACT	0.413000													31	228					1.06647e-15	1.85458e-15	0.788014	1	0
ERV3-1	2086	broad.mit.edu	37	7	64452169	64452169	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:64452169C>A	ENST00000394323.2	-	2	1736	c.1236G>T	c.(1234-1236)caG>caT	p.Q412H		NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN		412						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						cagagggtgcctgccaggtat	0.502000													7	44					1.12685e-05	1.37719e-05	0.307466	1	0
PALLD	23022	broad.mit.edu	37	4	169433435	169433435	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:169433435G>T	ENST00000261509.6	+	2	991	c.780G>T	c.(778-780)caG>caT	p.Q260H	PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000333488.4_Missense_Mutation_p.Q137H|PALLD_ENST00000505667.1_Missense_Mutation_p.Q260H	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	260					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CTCACCCACAGCCCCACAGCG	0.572000									Pancreatic Cancer, Familial Clustering of				13	96					1.05317e-09	1.53053e-09	0.457914	1	0
ARHGEF10L	55160	broad.mit.edu	37	1	17966696	17966696	+	Splice_Site	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:17966696G>T	ENST00000361221.3	+	21	2330		c.e21-1		ARHGEF10L_ENST00000167825.4_Splice_Site|ARHGEF10L_ENST00000434513.1_Splice_Site|ARHGEF10L_ENST00000452522.1_Splice_Site|ARHGEF10L_ENST00000375408.3_Splice_Site|ARHGEF10L_ENST00000469726.1_Splice_Site|ARHGEF10L_ENST00000375415.1_Splice_Site	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like						regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TCTCACCACAGGTCCGGCCGC	0.567000													7	39					5.4927e-09	7.78386e-09	0.307466	1	0
AMIGO2	347902	broad.mit.edu	37	12	47472379	47472379	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:47472379A>G	ENST00000266581.4	-	2	873	c.407T>C	c.(406-408)gTa>gCa	p.V136A	AMIGO2_ENST00000429635.1_Missense_Mutation_p.V136A|AMIGO2_ENST00000321382.3_Missense_Mutation_p.V136A|AMIGO2_ENST00000550413.1_Missense_Mutation_p.V136A	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	136					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					CTCTTGGAATACAGCATTTTT	0.433000													18	89					0	0	0.608945	0	0
GHSR	2693	broad.mit.edu	37	3	172165381	172165381	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:172165381A>G	ENST00000427970.1	-	1	864	c.823T>C	c.(823-825)Tct>Cct	p.S275P	GHSR_ENST00000241256.2_Intron	NM_004122.2	NP_004113.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	0					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CCCGCGAGAGAAAGCCTGAGC	0.587000													5	144					0	0	0.184627	0	0
CUX2	23316	broad.mit.edu	37	12	111785638	111785638	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:111785638G>T	ENST00000261726.6	+	22	4124	c.3970G>T	c.(3970-3972)Ggc>Tgc	p.G1324C		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1324						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCTGGACAAAGGCCAAGGTCC	0.622000													24	93					9.80776e-20	1.82462e-19	0.706142	1	0
WASL	8976	broad.mit.edu	37	7	123332402	123332402	+	Splice_Site	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:123332402G>T	ENST00000223023.4	-	9	1678	c.1347_splice	c.e9+1	p.S449_splice		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	449	WH2 2.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTACTTACAGATTTTAGTTG	0.343000													17	48					3.62473e-10	5.35104e-10	0.608945	1	0
TRIM21	6737	broad.mit.edu	37	11	4406615	4406615	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:4406615C>T	ENST00000254436.7	-	7	1440	c.1328G>A	c.(1327-1329)cGg>cAg	p.R443Q	TRIM21_ENST00000543625.1_Missense_Mutation_p.R443Q	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	443	B30.2/SPRY.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		GAAGAAGGGCCGCAGAGGTCC	0.488000													7	32					0	0	0.335167	0	0
SYNRG	11276	broad.mit.edu	37	17	35896111	35896111	+	Silent	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:35896111T>A	ENST00000339208.6	-	19	3776	c.3636A>T	c.(3634-3636)ctA>ctT	p.L1212L	SYNRG_ENST00000394378.2_Silent_p.L1134L|SYNRG_ENST00000585472.1_Silent_p.L1133L|SYNRG_ENST00000345615.4_Silent_p.L1134L|SYNRG_ENST00000502449.2_Silent_p.L1089L|SYNRG_ENST00000346661.4_Silent_p.L1212L|SYNRG_ENST00000591288.1_Silent_p.L1006L	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1212					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGAAGCCGATTAGGTTATTCC	0.468000													18	85					0	0	0.592651	0	0
ESPNP	284729	broad.mit.edu	37	1	17023403	17023403	+	RNA	SNP	G	G	A	rs10907267	by1000genomes	TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:17023403G>A	ENST00000492551.1	-	0	1544					NR_026567.1																						GGAACATCACGTTGAAAGACT	0.622000													12	26					0	0	0.457914	0	0
HOXB1	3211	broad.mit.edu	37	17	46607761	46607761	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:46607761G>T	ENST00000239174.6	-	1	598	c.506C>A	c.(505-507)cCt>cAt	p.P169H	HOXB1_ENST00000577092.1_Missense_Mutation_p.P169H	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	169						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGGTTCTGAAGGGCAGGGTGT	0.587000													11	45					0.00010058	0.00011667	0.411799	1	0
URB2	9816	broad.mit.edu	37	1	229771832	229771832	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:229771832C>T	ENST00000258243.2	+	4	1608	c.1472C>T	c.(1471-1473)gCc>gTc	p.A491V		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	491						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CCTGTGCTGGCCTCGGGCCCC	0.577000													23	211					0	0	0.681144	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881860	228881860	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:228881860G>T	ENST00000392056.3	-	7	3756	c.3710C>A	c.(3709-3711)tCg>tAg	p.S1237*	SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.S1237*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1237						cytoplasm	protein binding	p.S1237L(1)		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)		TGGCATGGACGACTGTCTGTG	0.562000													19	91					9.57634e-11	1.4481e-10	0.654019	1	0
NLGN1	22871	broad.mit.edu	37	3	173525562	173525562	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:173525562G>T	ENST00000457714.1	+	4	1015	c.586G>T	c.(586-588)Gtc>Ttc	p.V196F	NLGN1_ENST00000401917.3_Missense_Mutation_p.V236F|NLGN1_ENST00000361589.4_Missense_Mutation_p.V196F|NLGN1_ENST00000545397.1_Missense_Mutation_p.V196F	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	213					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TGATGGAAGTGTCTTGGCAAG	0.428000													17	80					5.35267e-07	6.98707e-07	0.557998	1	0
EVC2	132884	broad.mit.edu	37	4	5664865	5664865	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:5664865C>A	ENST00000310917.2	-	9	1605	c.874G>T	c.(874-876)Gac>Tac	p.D292Y	EVC2_ENST00000344938.1_Missense_Mutation_p.D372Y|EVC2_ENST00000344408.5_Missense_Mutation_p.D372Y	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	372						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CTCCCAGGGTCCTCGGAAGAC	0.453000													26	83					7.53681e-25	1.48279e-24	0.706142	1	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45568137	45568137	+	RNA	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:45568137T>C	ENST00000256692.5	-	0	548					NR_037144.1															breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGCAGAGTCTTAGTTCTGACA	0.443000													31	137					0	0	0.779181	0	0
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V		NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway	extracellular region		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692000													5	39					0	0	0.217242	0	0
PLXNB3	5365	broad.mit.edu	37	X	153035271	153035271	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:153035271G>T	ENST00000538966.1	+	8	1846	c.1575G>T	c.(1573-1575)cgG>cgT	p.R525R	PLXNB3_ENST00000361971.5_Silent_p.R502R|PLXNB3_ENST00000538776.1_Silent_p.R155R|PLXNB3_ENST00000538282.1_Silent_p.R112R|PLXNB3_ENST00000538543.1_Silent_p.R52R	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	502					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTGTACCCGGAAGGGCCAGT	0.682000													5	8					0.00198382	0.00217109	0.248553	1	0
ZSCAN20	7579	broad.mit.edu	37	1	33959145	33959145	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:33959145G>T	ENST00000361328.3	+	7	1956	c.1803G>T	c.(1801-1803)gaG>gaT	p.E601D		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	601					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ATGCCCAGGAGGCCTGGGGTG	0.562000													46	271					1.14385e-22	2.1998e-22	0.870114	1	0
ADAM8	101	broad.mit.edu	37	10	135083894	135083894	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:135083894C>A	ENST00000445355.3	-	16	1805	c.1755G>T	c.(1753-1755)gtG>gtT	p.V585V	ADAM8_ENST00000485491.2_Silent_p.V546V|ADAM8_ENST00000415217.3_Silent_p.V585V	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN	ADAM metallopeptidase domain 8	546					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		TGCCCTCGGGCACTGGTTCAT	0.677000													5	39					0.248553	0.251618	0.248553	1	0
HTR5A	3361	broad.mit.edu	37	7	154862857	154862857	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:154862857C>A	ENST00000287907.2	+	1	824	c.248C>A	c.(247-249)gCc>gAc	p.A83D	AC093726.4_ENST00000395731.2_Missense_Mutation_p.A53S|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000543018.1_Missense_Mutation_p.A53S	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	83						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GCATCCATGGCCGTCTCGGAT	0.687000													6	86					8.12818e-05	9.4606e-05	0.248553	1	0
BAALC	79870	broad.mit.edu	37	8	104240276	104240276	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:104240276C>A	ENST00000309982.5	+	3	575	c.387C>A	c.(385-387)agC>agA	p.S129R	RP11-318M2.2_ENST00000523614.2_RNA|RP11-318M2.2_ENST00000499522.2_RNA|BAALC_ENST00000438105.2_3'UTR|BAALC_ENST00000297574.6_Missense_Mutation_p.S164R|BAALC_ENST00000523754.1_3'UTR	NM_024812.2	NP_079088.1	Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic	164						centrosome|membrane|nucleus				kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			TAACAGATAGCATCCAACAGA	0.413000													11	41					0.000219431	0.000252395	0.457914	1	0
ZFP57	346171	broad.mit.edu	37	6	29640744	29640744	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:29640744T>C	ENST00000376883.1	-	6	1495	c.1084A>G	c.(1084-1086)Aat>Gat	p.N362D	ZFP57_ENST00000488757.1_Missense_Mutation_p.N382D|ZFP57_ENST00000376881.3_Missense_Mutation_p.N362D			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	298					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						CAGAAGACATTGAGTCTTGAG	0.517000													67	413					0	0	0.870114	0	0
SLC6A18	348932	broad.mit.edu	37	5	1235747	1235747	+	Silent	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:1235747T>C	ENST00000324642.3	+	4	714	c.591T>C	c.(589-591)tgT>tgC	p.C197C	SLC6A18_ENST00000296821.4_Silent_p.C197C	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	197					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGTACATGTGTGTCATCAGGG	0.587000													72	295					0	0	0.870114	0	0
PWP2	5822	broad.mit.edu	37	21	45542228	45542228	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr21:45542228G>T	ENST00000291576.7	+	14	1934	c.1807G>T	c.(1807-1809)Gcc>Tcc	p.A603S		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	603						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CAAGCACGCGGCCAAGGGGAA	0.587000													5	47					0.00198382	0.00217109	0.248553	1	0
PGF	5228	broad.mit.edu	37	14	75416138	75416138	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:75416138G>A	ENST00000555567.1	-	3	778	c.237C>T	c.(235-237)tcC>tcT	p.S79S	PGF_ENST00000553716.1_Silent_p.S79S|PGF_ENST00000405431.2_Silent_p.S79S|PGF_ENST00000238607.6_Silent_p.S78S	NM_002632.5	NP_002623.2	P49763	PLGF_HUMAN	placental growth factor	79					angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway	extracellular region|membrane	growth factor activity|heparin binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)		AGCGCAGCAGGGAGACACAGG	0.652000													16	72					0	0	0.557998	0	0
SLC17A7	57030	broad.mit.edu	37	19	49933894	49933894	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:49933894C>T	ENST00000221485.3	-	12	1736	c.1565G>A	c.(1564-1566)aGc>aAc	p.S522N	SLC17A7_ENST00000600601.1_Missense_Mutation_p.S455N|SLC17A7_ENST00000543531.1_Missense_Mutation_p.S510N	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	522					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CTCCATTTCGCTGTCGTCACT	0.652000													11	78					0	0	0.457914	0	0
HCN1	348980	broad.mit.edu	37	5	45262236	45262236	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:45262236C>A	ENST00000303230.4	-	8	2517	c.2460G>T	c.(2458-2460)acG>acT	p.T820T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	820						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.T820T(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CGGGGACCGCCGTCACGGGTT	0.682000													34	30					6.00712e-18	1.09085e-17	0.760397	1	0
ANKRD40	91369	broad.mit.edu	37	17	48778048	48778048	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:48778048T>A	ENST00000285243.6	-	2	433	c.164A>T	c.(163-165)aAc>aTc	p.N55I		NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	55										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			CTGACCATGGTTTCGTTTACA	0.368000													10	62					0	0	0.411799	0	0
PEG3	5178	broad.mit.edu	37	19	57327145	57327145	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:57327145G>T	ENST00000326441.9	-	10	3028	c.2665C>A	c.(2665-2667)Cgc>Agc	p.R889S	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R765S|PEG3_ENST00000423103.2_Missense_Mutation_p.R889S|PEG3_ENST00000593695.1_Missense_Mutation_p.R763S|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	889					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)		TCATAGTTGCGATTCTTACTG	0.443000													23	56					1.77063e-15	3.05579e-15	0.693898	1	0
CLCA4	22802	broad.mit.edu	37	1	87031610	87031610	+	Translation_Start_Site	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:87031610C>A	ENST00000263723.5	+	0	560				CLCA4_ENST00000370563.3_Silent_p.P287P			Q14CN2	CLCA4_HUMAN	chloride channel accessory 4							apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		ACACCATACCCATGGTGACAC	0.413000													23	104					2.41591e-17	4.32587e-17	0.681144	1	0
TRAV3	28690	broad.mit.edu	37	14	22192540	22192540	+	RNA	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:22192540C>A	ENST00000390425.2	+	0	491																											TGAGCGACTCCGCTTTGTACT	0.488000													6	23					0.0293803	0.0306811	0.248553	1	0
TRPM5	29850	broad.mit.edu	37	11	2437190	2437190	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:2437190C>T	ENST00000452833.1	-	8	1088	c.1080G>A	c.(1078-1080)tgG>tgA	p.W360*	TRPM5_ENST00000155858.6_Nonsense_Mutation_p.W358*|TRPM5_ENST00000533060.1_Nonsense_Mutation_p.W358*|TRPM5_ENST00000528453.1_Nonsense_Mutation_p.W358*			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	358						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCACGCGGTCCCAGGCCACGG	0.637000													5	9					0	0	0.217242	0	0
RHCE	6006	broad.mit.edu	37	1	25729150	25729150	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:25729150C>A	ENST00000349320.3	-	5	763	c.375G>T	c.(373-375)gtG>gtT	p.V125V	RHCE_ENST00000455194.1_Silent_p.V141V|RHCE_ENST00000495048.1_5'UTR|RHCE_ENST00000349438.4_Silent_p.V141V|RHCE_ENST00000243186.6_Silent_p.V141V|RHCE_ENST00000413854.1_Silent_p.V141V|RHCE_ENST00000425135.1_Silent_p.V141V|RHCE_ENST00000374352.2_Silent_p.V125V|RHCE_ENST00000346452.4_Silent_p.V141V|RHCE_ENST00000340849.4_Silent_p.V141V|RHCE_ENST00000294413.7_Silent_p.V141V			P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	141				I -> N (in Ref. 13; ACK75565).		integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCACCATCACCACCAACT	0.557000													18	110					7.45023e-12	1.18327e-11	0.592651	1	0
CASQ1	844	broad.mit.edu	37	1	160171043	160171043	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:160171043C>A	ENST00000368079.3	+	11	1325	c.1050C>A	c.(1048-1050)agC>agA	p.S350R	CASQ1_ENST00000368078.3_Missense_Mutation_p.S356R|CASQ1_ENST00000467691.1_Missense_Mutation_p.S77R	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	356						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGCGGATAGCGTATGGATGG	0.572000													6	29					8.12818e-05	9.4606e-05	0.248553	1	0
TPP2	7174	broad.mit.edu	37	13	103289511	103289511	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr13:103289511G>T	ENST00000376052.3	+	14	1774	c.1758G>T	c.(1756-1758)ttG>ttT	p.L586F	TPP2_ENST00000376065.4_Missense_Mutation_p.L586F			P29144	TPP2_HUMAN	tripeptidyl peptidase II	586					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCAGCCATTTGGAACTCATGA	0.383000													10	60					3.86212e-05	4.5625e-05	0.361761	1	0
C2orf71	388939	broad.mit.edu	37	2	29294136	29294136	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:29294136T>C	ENST00000331664.5	-	1	2991	c.2992A>G	c.(2992-2994)Agg>Ggg	p.R998G		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	998					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CAGTGTGTCCTCGTGGGAGAG	0.642000													9	83					0	0	0.387290	0	0
DTX2	113878	broad.mit.edu	37	7	76112402	76112402	+	Silent	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:76112402C>G	ENST00000324432.5	+	5	1356	c.846C>G	c.(844-846)tcC>tcG	p.S282S	DTX2_ENST00000413936.2_Silent_p.S282S|DTX2_ENST00000446600.1_Silent_p.S191S|DTX2_ENST00000446820.2_Silent_p.S282S|DTX2_ENST00000430490.2_Silent_p.S282S|DTX2_ENST00000307569.8_Silent_p.S282S	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	282					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						TCTACCGCTCCAGCCTCTCCC	0.687000													9	34					0	0	0.500413	0	0
SYNE1	23345	broad.mit.edu	37	6	152763291	152763291	+	Silent	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:152763291T>A	ENST00000367255.5	-	31	4528	c.3927A>T	c.(3925-3927)cgA>cgT	p.R1309R	SYNE1_ENST00000367248.3_Silent_p.R1299R|SYNE1_ENST00000367253.4_Silent_p.R1309R|SYNE1_ENST00000341594.5_Silent_p.R1375R|SYNE1_ENST00000265368.4_Silent_p.R1309R|SYNE1_ENST00000413186.2_Silent_p.R1309R|SYNE1_ENST00000423061.1_Silent_p.R1316R|SYNE1_ENST00000448038.1_Silent_p.R1316R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1309					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTCGTGGCCTCGGTCAGGCA	0.617000										HNSCC(10;0.0054)			23	89					0	0	0.624587	0	0
NDUFA8	4702	broad.mit.edu	37	9	124906529	124906529	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:124906529C>A	ENST00000373768.3	-	4	651	c.510G>T	c.(508-510)tgG>tgT	p.W170C	NDUFA8_ENST00000537618.1_Intron	NM_014222.2	NP_055037.1	P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa	170					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					NADH(DB00157)	TTTACTTGGTCCAGAAATAAA	0.532000													8	40					1.12685e-05	1.37719e-05	0.307466	1	0
CASR	846	broad.mit.edu	37	3	122003526	122003526	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:122003526A>T	ENST00000498619.1	+	7	3193	c.2755A>T	c.(2755-2757)Acc>Tcc	p.T919S	CASR_ENST00000490131.1_Missense_Mutation_p.T909S|CASR_ENST00000296154.5_Missense_Mutation_p.T909S	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	909					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CACGGGATCCACCCCCTCCTC	0.662000													8	47					0	0	0.387290	0	0
TDG	6996	broad.mit.edu	37	12	104378558	104378558	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:104378558G>T	ENST00000392872.3	+	8	1058	c.824G>T	c.(823-825)aGa>aTa	p.R275I	TDG_ENST00000542036.1_Missense_Mutation_p.R71I|TDG_ENST00000266775.9_Missense_Mutation_p.R271I|TDG_ENST00000544861.1_Missense_Mutation_p.R132I	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	275					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TCCAGTGCAAGATGTGCTCAG	0.348000								Base excision repair (BER), DNA glycosylases					4	60					3.59834e-05	4.28791e-05	0.217242	1	0
PDE3B	5140	broad.mit.edu	37	11	14889144	14889144	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:14889144C>A	ENST00000282096.4	+	15	3332	c.2979C>A	c.(2977-2979)acC>acA	p.T993T	PDE3B_ENST00000455098.2_Silent_p.T942T	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	993	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTTTTATCACCCACATAGTGG	0.448000													15	46					2.35188e-11	3.66443e-11	0.539581	1	0
DAB1	1600	broad.mit.edu	37	1	57480638	57480638	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:57480638C>G	ENST00000371236.2	-	12	1625	c.1362G>C	c.(1360-1362)caG>caC	p.Q454H	DAB1_ENST00000371234.4_Missense_Mutation_p.Q454H|DAB1_ENST00000439789.2_Missense_Mutation_p.Q368H|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000414851.2_Missense_Mutation_p.Q436H|DAB1_ENST00000420954.2_Missense_Mutation_p.Q452H|DAB1_ENST00000371231.1_Missense_Mutation_p.Q487H			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	487					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CGTCTGTATCCTGTGCCACCC	0.567000													15	65					0	0	0.457914	0	0
LRFN2	57497	broad.mit.edu	37	6	40400546	40400546	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:40400546G>T	ENST00000338305.6	-	2	849	c.307C>A	c.(307-309)Cgc>Agc	p.R103S		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	103						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGCAGGGAGCGGAGGCTCTCG	0.597000													6	30					0.00448238	0.00485631	0.307466	1	0
OR2V2	285659	broad.mit.edu	37	5	180582727	180582727	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:180582727G>T	ENST00000328275.1	+	1	785	c.785G>T	c.(784-786)aGg>aTg	p.R262M		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCTACCTGAGGCCTAGGCAC	0.577000													13	47					4.3838e-07	5.72966e-07	0.435327	1	0
DST	667	broad.mit.edu	37	6	56471502	56471502	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:56471502C>G	ENST00000370754.5	-	39	7824	c.7825G>C	c.(7825-7827)Gac>Cac	p.D2609H	DST_ENST00000370769.4_Missense_Mutation_p.D2431H|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.D2431H|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Missense_Mutation_p.D2431H|DST_ENST00000446842.2_Missense_Mutation_p.D2105H			Q03001	DYST_HUMAN	dystonin	2431					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCAGTGTGTCGTAGTCCTCA	0.433000													17	78					0	0	0.557998	0	0
FUBP1	8880	broad.mit.edu	37	1	78429765	78429765	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:78429765G>T	ENST00000370767.1	-	12	1110	c.1023C>A	c.(1021-1023)gaC>gaA	p.D341E	FUBP1_ENST00000436586.2_Missense_Mutation_p.D362E|FUBP1_ENST00000370768.2_Missense_Mutation_p.D341E			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	341					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TTCGAAGAAGGTCTGTAATAA	0.348000			"""F, N"""		oligodendroglioma								5	170					0.0215528	0.0226801	0.217242	1	0
APBA1	320	broad.mit.edu	37	9	72131967	72131967	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:72131967C>A	ENST00000265381.4	-	2	382	c.160G>T	c.(160-162)Ggg>Tgg	p.G54W		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	54					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						AGGGCTCGCCCGCGCTGGTGG	0.706000													3	11					6.4e-05	7.50611e-05	0.115264	1	0
XIST	7503	broad.mit.edu	37	X	73065132	73065132	+	RNA	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:73065132G>T	ENST00000429829.1	-	0	7456					NR_001564.2																						ACACATAACAGGCCAGGAAAA	0.507000													31	60					3.33393e-15	5.70103e-15	0.804634	1	0
CLSTN2	64084	broad.mit.edu	37	3	140281066	140281066	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:140281066C>A	ENST00000458420.3	+	13	2318	c.2128C>A	c.(2128-2130)Cag>Aag	p.Q710K		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	710					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGACCCAAGGCAGGAGTGCTT	0.498000										HNSCC(16;0.037)			11	73					7.03913e-09	9.94101e-09	0.411799	1	0
GSTA2	2939	broad.mit.edu	37	6	52617683	52617683	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:52617683G>A	ENST00000493422.1	-	5	538	c.383C>T	c.(382-384)aCa>aTa	p.T128I		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	128	GST C-terminal.			T -> I (in Ref. 6; AA sequence).	glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	GCGATTTTTTGTTTTCTCTTG	0.413000													11	327					0	0	0.500413	0	0
MSRB3	253827	broad.mit.edu	37	12	65856938	65856938	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:65856938G>T	ENST00000308259.5	+	7	668	c.394G>T	c.(394-396)Ggt>Tgt	p.G132C	MSRB3_ENST00000355192.3_Missense_Mutation_p.G139C|MSRB3_ENST00000535664.1_Missense_Mutation_p.G132C	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	139					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		CTTTCAGTGTGGTGCTCACCT	0.453000													22	102					1.64293e-13	2.71441e-13	0.654019	1	0
GPC6	10082	broad.mit.edu	37	13	95055301	95055301	+	Missense_Mutation	SNP	G	G	T	rs149654809		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr13:95055301G>T	ENST00000377047.4	+	9	2113	c.1498G>T	c.(1498-1500)Ggg>Tgg	p.G500W		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	500						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GAGTGGCAGTGGGTGCATGGA	0.537000													24	225					2.85442e-18	5.22038e-18	0.750413	1	0
NRCAM	4897	broad.mit.edu	37	7	107824999	107824999	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:107824999C>T	ENST00000379028.3	-	21	2565	c.2095G>A	c.(2095-2097)Gaa>Aaa	p.E699K	NRCAM_ENST00000425651.2_Missense_Mutation_p.E699K|NRCAM_ENST00000351718.4_Missense_Mutation_p.E683K|NRCAM_ENST00000413765.2_Missense_Mutation_p.E680K|NRCAM_ENST00000379022.4_Missense_Mutation_p.E699K|NRCAM_ENST00000379024.4_Missense_Mutation_p.E680K			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	699	Fibronectin type-III 1.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CCAGAAACTTCAGTTTGGTGG	0.507000													9	41					0	0	0.387290	0	0
FSCB	84075	broad.mit.edu	37	14	44975470	44975470	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:44975470G>A	ENST00000340446.4	-	1	1012	c.721C>T	c.(721-723)Cct>Tct	p.P241S		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	241						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGTACAACAGGTACAGTTACT	0.398000													5	46					0	0	0.217242	0	0
ABCA7	10347	broad.mit.edu	37	19	1042750	1042750	+	Silent	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:1042750C>G	ENST00000263094.6	+	7	735	c.504C>G	c.(502-504)tcC>tcG	p.S168S	ABCA7_ENST00000435683.2_Silent_p.S30S|ABCA7_ENST00000433129.1_Silent_p.S168S	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	168					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGGAATCCCTGGGGTTGG	0.597000													4	95					0	0	0.217242	0	0
DMP1	1758	broad.mit.edu	37	4	88584224	88584224	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:88584224G>A	ENST00000339673.6	+	6	1393	c.1294G>A	c.(1294-1296)Ggc>Agc	p.G432S	DMP1_ENST00000282479.7_Missense_Mutation_p.G416S|RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	432					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		CAGCCAGGAGGGCCTCCAGTC	0.552000													13	47					0	0	0.479597	0	0
SNHG14	104472715	broad.mit.edu	37	15	25463658	25463658	+	RNA	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:25463658G>C	ENST00000424208.1	+	0	2941				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						CCATCGGTGCGCTGAAGCTCC	0.592000													10	27					0	0	0.335167	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128856502	128856502	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:128856502G>A	ENST00000310343.9	-	13	1317	c.1318C>T	c.(1318-1320)Cat>Tat	p.H440Y	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.H91Y|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.H91Y|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.H366Y	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	440	Rho-GAP.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CCCACAGAATGGATGTCCTGA	0.468000													13	87					0	0	0.479597	0	0
MUC16	94025	broad.mit.edu	37	19	9075358	9075358	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:9075358T>C	ENST00000397910.4	-	3	12291	c.12088A>G	c.(12088-12090)Aca>Gca	p.T4030A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4032	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTGTTTGTGTGGTTGAGCTG	0.478000													25	60					0	0	0.681144	0	0
MBD1	4152	broad.mit.edu	37	18	47802046	47802046	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:47802046T>A	ENST00000591416.1	-	8	1147	c.716A>T	c.(715-717)cAt>cTt	p.H239L	MBD1_ENST00000590208.1_Missense_Mutation_p.H239L|MBD1_ENST00000269471.5_Missense_Mutation_p.H239L|MBD1_ENST00000382948.5_Missense_Mutation_p.H239L|MBD1_ENST00000588937.1_Missense_Mutation_p.H239L|MBD1_ENST00000587605.1_Missense_Mutation_p.H239L|MBD1_ENST00000591535.1_Missense_Mutation_p.H239L|MBD1_ENST00000585672.1_Missense_Mutation_p.H190L|MBD1_ENST00000585595.1_Missense_Mutation_p.H239L|MBD1_ENST00000457839.2_Missense_Mutation_p.H239L|MBD1_ENST00000436910.1_Missense_Mutation_p.H239L|MBD1_ENST00000424334.2_Missense_Mutation_p.H265L|MBD1_ENST00000398488.1_Missense_Mutation_p.H239L|MBD1_ENST00000398493.1_Missense_Mutation_p.H239L|MBD1_ENST00000398495.2_Missense_Mutation_p.H239L|MBD1_ENST00000349085.2_Missense_Mutation_p.H239L|MBD1_ENST00000269468.5_Missense_Mutation_p.H239L|MBD1_ENST00000353909.3_Missense_Mutation_p.H190L|MBD1_ENST00000347968.3_Missense_Mutation_p.H239L|MBD1_ENST00000339998.6_Missense_Mutation_p.H239L			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	239				H -> R (in Ref. 5; ABP02056).	negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GATGGGGCAATGGCCACAATC	0.647000													6	75					0	0	0.307466	0	0
FRMPD2	143162	broad.mit.edu	37	10	49457176	49457176	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:49457176G>T	ENST00000374201.3	-	3	499	c.197C>A	c.(196-198)gCa>gAa	p.A66E	FRMPD2_ENST00000407470.4_Missense_Mutation_p.A57E|FRMPD2_ENST00000305531.3_Missense_Mutation_p.A64E	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	66	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GCTTCCAGCTGCAGAAAGCAG	0.547000													4	38					0.000602214	0.000674165	0.184627	1	0
GCNT1	2650	broad.mit.edu	37	9	79118407	79118407	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:79118407G>T	ENST00000442371.1	+	3	2049	c.1110G>T	c.(1108-1110)ccG>ccT	p.P370P	GCNT1_ENST00000444201.2_Silent_p.P370P|GCNT1_ENST00000376730.4_Silent_p.P370P|GCNT1_ENST00000536223.1_Silent_p.P370P	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	370	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						CTCCCTACCCGCCCTGCGATG	0.517000													13	102					4.75885e-15	8.11734e-15	0.520397	1	0
ZNF485	220992	broad.mit.edu	37	10	44112065	44112065	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:44112065G>A	ENST00000361807.3	+	5	768	c.574G>A	c.(574-576)Ggg>Agg	p.G192R	ZNF485_ENST00000374435.3_Missense_Mutation_p.G192R|ZNF485_ENST00000374437.2_Missense_Mutation_p.G101R	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TATTGAATGTGGGAAGTTCCT	0.378000													12	59					0	0	0.457914	0	0
SNX14	57231	broad.mit.edu	37	6	86251754	86251754	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:86251754C>T	ENST00000314673.3	-	15	1573	c.1397G>A	c.(1396-1398)aGa>aAa	p.R466K	SNX14_ENST00000505648.1_Missense_Mutation_p.R414K|SNX14_ENST00000369627.2_Missense_Mutation_p.R466K|SNX14_ENST00000346348.3_Missense_Mutation_p.R422K|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000513865.1_Intron	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	466	RGS.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TAAAAGTTGTCTGAAATACTT	0.294000													4	23					0	0	0.150653	0	0
CACNA1I	8911	broad.mit.edu	37	22	40036944	40036944	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:40036944G>T	ENST00000336649.4	+	8	813	c.813G>T	c.(811-813)ctG>ctT	p.L271L	CACNA1I_ENST00000402142.3_Silent_p.L271L|CACNA1I_ENST00000407673.1_Silent_p.L271L|CACNA1I_ENST00000400164.3_Silent_p.L271L|CACNA1I_ENST00000404898.1_Silent_p.L271L|CACNA1I_ENST00000401624.1_Silent_p.L271L			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	271					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCTGCTCCCTGTCGGGCGACA	0.602000													14	35					7.93312e-07	1.02125e-06	0.457914	1	0
VSX2	338917	broad.mit.edu	37	14	74726370	74726370	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:74726370C>A	ENST00000261980.2	+	4	735	c.645C>A	c.(643-645)gtC>gtA	p.V215V		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	215	CVC.				multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		GGAGCAGTGTCATGGCGGAGT	0.617000													23	168					9.04412e-07	1.16209e-06	0.681144	1	0
CDH13	1012	broad.mit.edu	37	16	83378554	83378554	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:83378554C>A	ENST00000566620.1	+	6	1014	c.724C>A	c.(724-726)Cga>Aga	p.R242R	CDH13_ENST00000268613.10_Silent_p.R289R|CDH13_ENST00000428848.3_Silent_p.R203R|CDH13_ENST00000569454.1_3'UTR	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	242	Cadherin 1.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	p.R242R(1)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GAATGACAACCGACCGATCTT	0.498000													26	87					1.77063e-15	3.05579e-15	0.693898	1	0
RNF180	285671	broad.mit.edu	37	5	63509536	63509536	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:63509536G>T	ENST00000389100.4	+	4	455	c.383G>T	c.(382-384)gGc>gTc	p.G128V	RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Missense_Mutation_p.G128V	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	128						integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		ACACAGGCAGGCAGACTAATG	0.488000													30	133					3.80469e-20	7.11689e-20	0.740014	1	0
NETO1	81832	broad.mit.edu	37	18	70417473	70417473	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:70417473C>A	ENST00000327305.6	-	9	2022	c.1365G>T	c.(1363-1365)ttG>ttT	p.L455F	NETO1_ENST00000583169.1_Missense_Mutation_p.L455F|NETO1_ENST00000299430.2_Missense_Mutation_p.L454F	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	455					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.L455F(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GCATCTCTGTCAAGATAGAAG	0.488000													5	39					8.12818e-05	9.4606e-05	0.248553	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110477106	110477106	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:110477106G>T	ENST00000378402.5	+	49	8149	c.8045G>T	c.(8044-8046)gGa>gTa	p.G2682V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2682					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TATGAGGCTGGAATTGAGACT	0.438000										HNSCC(38;0.096)			15	42					0.0285812	0.0300454	0.500413	1	0
RPL3L	6123	broad.mit.edu	37	16	1995911	1995911	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:1995911C>T	ENST00000268661.7	-	8	1066	c.972G>A	c.(970-972)ggG>ggA	p.G324G		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	324					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						TGTTCACTTCCCCGTAGTGGG	0.602000													23	57					0	0	0.681144	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38597180	38597180	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:38597180A>T	ENST00000222345.6	+	7	2542	c.2033A>T	c.(2032-2034)gAc>gTc	p.D678V		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	678	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GTTTCAGCCGACTCCACGGGA	0.507000													24	160					0	0	0.717897	0	0
PODN	127435	broad.mit.edu	37	1	53544241	53544241	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:53544241G>T	ENST00000371500.3	+	10	1487	c.1146G>T	c.(1144-1146)ctG>ctT	p.L382L	RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Silent_p.L259L|PODN_ENST00000312553.5_Silent_p.L401L	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	353					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCCACCCACTGGCCTTCCAGG	0.672000													8	44					4.68919e-08	6.42767e-08	0.361761	1	0
DDX23	9416	broad.mit.edu	37	12	49231337	49231337	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:49231337C>A	ENST00000308025.3	-	7	802	c.723G>T	c.(721-723)aaG>aaT	p.K241N	DDX23_ENST00000553182.1_Intron	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	241						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TGCTCTTATCCTTCTCTTCCC	0.512000													29	83					1.16021e-09	1.68251e-09	0.717897	1	0
LILRA2	11027	broad.mit.edu	37	19	55098703	55098703	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:55098703G>T	ENST00000251377.3	+	9	1475	c.1342G>T	c.(1342-1344)Gag>Tag	p.E448*	LILRA2_ENST00000391738.3_Nonsense_Mutation_p.E448*|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Nonsense_Mutation_p.E431*|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Nonsense_Mutation_p.E419*					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TTACACAGTGGAGAATCTCAT	0.572000													13	161					0.00074312	0.000827841	0.539581	1	0
OSBPL8	114882	broad.mit.edu	37	12	76778053	76778053	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:76778053C>A	ENST00000261183.3	-	15	2090	c.1611G>T	c.(1609-1611)ctG>ctT	p.L537L	OSBPL8_ENST00000393249.2_Silent_p.L495L|OSBPL8_ENST00000393250.4_Silent_p.L495L	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	537					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TAGACTTAGCCAGGATACTAC	0.408000													13	58					3.32936e-07	4.36819e-07	0.539581	1	0
RGS10	6001	broad.mit.edu	37	10	121286922	121286922	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:121286922C>T	ENST00000392865.1	-	2	84	c.22G>A	c.(22-24)Gat>Aat	p.D8N	RGS10_ENST00000369103.2_Missense_Mutation_p.D22N|RGS10_ENST00000369101.3_Missense_Mutation_p.D14N	NM_002925.3	NP_002916.1	O43665	RGS10_HUMAN	regulator of G-protein signaling 10	14					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		GAACTGCCATCGCTGTCGTGG	0.517000													4	81					0	0	0.248553	0	0
FSCB	84075	broad.mit.edu	37	14	44975866	44975866	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:44975866G>C	ENST00000340446.4	-	1	616	c.325C>G	c.(325-327)Cca>Gca	p.P109A		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	109						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		ACACTCTCTGGCAATTCAATA	0.418000													33	143					0	0	0.779181	0	0
REG3A	5068	broad.mit.edu	37	2	79385458	79385458	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:79385458G>A	ENST00000393878.1	-	3	581	c.327C>T	c.(325-327)ccC>ccT	p.P109P	REG3A_ENST00000305165.2_Silent_p.P109P|REG3A_ENST00000409839.3_Silent_p.P109P	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	109	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GCACCTGTGTGGGGTCATGGA	0.567000													17	52					0	0	0.624587	0	0
LAMA2	3908	broad.mit.edu	37	6	129674459	129674459	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:129674459C>A	ENST00000421865.2	+	32	4723	c.4674C>A	c.(4672-4674)gaC>gaA	p.D1558E		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1558	Laminin EGF-like 17.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGAAGTGTGACGGCTGCAAGC	0.537000													7	141					5.18039e-06	6.43472e-06	0.278610	1	0
PCDHB16	57717	broad.mit.edu	37	5	140563723	140563723	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:140563723G>T	ENST00000361016.2	+	1	2744	c.1589G>T	c.(1588-1590)cGc>cTc	p.R530L		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		530	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGAGTTCCGCGTGAGCGCC	0.677000													6	129					0.0293803	0.0306811	0.248553	1	0
CDH11	1009	broad.mit.edu	37	16	65015954	65015954	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:65015954A>T	ENST00000394156.3	-	8	1703	c.1250T>A	c.(1249-1251)aTa>aAa	p.I417K	CDH11_ENST00000566827.1_Missense_Mutation_p.I291K|CDH11_ENST00000268603.4_Missense_Mutation_p.I417K			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	417	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TCTGTACCTTATCGGGCTGTT	0.473000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			24	58					0	0	0.717897	0	0
NGLY1	55768	broad.mit.edu	37	3	25781252	25781252	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:25781252G>A	ENST00000428257.1	-	5	804	c.697C>T	c.(697-699)Ctt>Ttt	p.L233F	NGLY1_ENST00000422724.2_Intron|NGLY1_ENST00000396649.3_Missense_Mutation_p.L233F|NGLY1_ENST00000417874.2_Missense_Mutation_p.L191F|NGLY1_ENST00000280700.5_Missense_Mutation_p.L233F	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	233					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CAGTGCAAAAGCTCCAGCAAA	0.373000													3	45					0	0	0.184627	0	0
CT62	196993	broad.mit.edu	37	15	71403690	71403690	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:71403690G>T	ENST00000449977.2	-	4	717	c.211C>A	c.(211-213)Cca>Aca	p.P71T	THSD4_ENST00000355327.3_Intron|CT62_ENST00000566432.1_3'UTR|RP11-673C5.4_ENST00000564862.1_RNA	NM_001102658.1	NP_001096128.1	P0C5K7	CT62_HUMAN	cancer/testis antigen 62	71										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)	6						CCCAGTTGTGGGTTACAGGTC	0.512000													3	33					0.004672	0.00502988	0.115264	1	0
ZNF407	55628	broad.mit.edu	37	18	72346981	72346981	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:72346981G>A	ENST00000299687.5	+	1	4006	c.4006G>A	c.(4006-4008)Gtc>Atc	p.V1336I	ZNF407_ENST00000582337.1_Missense_Mutation_p.V1336I|ZNF407_ENST00000309902.6_Missense_Mutation_p.V1336I|ZNF407_ENST00000577538.1_Missense_Mutation_p.V1336I	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AAGTAGTGATGTCTATGAAAC	0.378000													13	58					0	0	0.479597	0	0
GDF9	2661	broad.mit.edu	37	5	132198042	132198042	+	Missense_Mutation	SNP	G	G	T	rs139629952	byFrequency	TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:132198042G>T	ENST00000378673.2	-	3	1470	c.604C>A	c.(604-606)Cag>Aag	p.Q202K	GDF9_ENST00000296875.2_Missense_Mutation_p.Q202K			O60383	GDF9_HUMAN	growth differentiation factor 9	202					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATTCAAACTGTGAGTTAAAG	0.413000													15	79					1.33834e-09	1.93399e-09	0.557998	1	0
PTPRT	11122	broad.mit.edu	37	20	40770635	40770635	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:40770635G>T	ENST00000373198.3	-	19	2991	c.2756C>A	c.(2755-2757)cCa>cAa	p.P919Q	PTPRT_ENST00000373190.1_Missense_Mutation_p.P896Q|PTPRT_ENST00000373187.1_Missense_Mutation_p.P897Q|PTPRT_ENST00000373193.3_Missense_Mutation_p.P900Q|PTPRT_ENST00000356100.2_Missense_Mutation_p.P906Q|PTPRT_ENST00000373201.1_Missense_Mutation_p.P887Q|PTPRT_ENST00000373184.1_Missense_Mutation_p.P887Q	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	897	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTGCCCCTCTGGTAAGGCCTA	0.507000													53	169					7.50695e-29	1.52216e-28	0.870114	1	0
ZNF341	84905	broad.mit.edu	37	20	32371626	32371626	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:32371626T>C	ENST00000375200.1	+	12	2173	c.1808T>C	c.(1807-1809)tTc>tCc	p.F603S	ZNF341_ENST00000342427.2_Missense_Mutation_p.F596S			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	603					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						AAGAAGTTCTTCCGGCGGGAG	0.617000													6	134					0	0	0.307466	0	0
SPAM1	6677	broad.mit.edu	37	7	123594254	123594254	+	Silent	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:123594254T>A	ENST00000340011.5	+	3	987	c.630T>A	c.(628-630)ctT>ctA	p.L210L	SPAM1_ENST00000223028.7_Silent_p.L210L|SPAM1_ENST00000439500.1_Silent_p.L210L|SPAM1_ENST00000460182.1_Silent_p.L210L|SPAM1_ENST00000402183.2_Silent_p.L210L	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	210					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	GAAAATTACTTCGGCCAAATC	0.378000													34	65					0	0	0.840704	0	0
ZNF208	7757	broad.mit.edu	37	19	22154754	22154754	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:22154754G>C	ENST00000397126.4	-	4	3230	c.3082C>G	c.(3082-3084)Ccc>Gcc	p.P1028A	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CATTTGTAGGGTGTCTCTCCA	0.418000													9	71					0	0	0.411799	0	0
NRP2	8828	broad.mit.edu	37	2	206562391	206562391	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:206562391A>T	ENST00000360409.3	+	2	988	c.197A>T	c.(196-198)cAg>cTg	p.Q66L	NRP2_ENST00000417189.1_Missense_Mutation_p.Q66L|NRP2_ENST00000357118.4_Missense_Mutation_p.Q66L|NRP2_ENST00000540841.1_Missense_Mutation_p.Q66L|NRP2_ENST00000540178.1_Missense_Mutation_p.Q66L|NRP2_ENST00000272849.3_Missense_Mutation_p.Q66L|NRP2_ENST00000412873.2_Missense_Mutation_p.Q66L|NRP2_ENST00000357785.5_Missense_Mutation_p.Q66L|NRP2_ENST00000355117.4_Missense_Mutation_p.Q66L	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	66	CUB 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GAACCCAACCAGAAGATTGTC	0.522000													116	641					0	0	0.870114	0	0
COL22A1	169044	broad.mit.edu	37	8	139728491	139728491	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:139728491C>A	ENST00000303045.6	-	29	2888	c.2442G>T	c.(2440-2442)gtG>gtT	p.V814V	COL22A1_ENST00000435777.1_Silent_p.V814V|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	814	Collagen-like 6.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCTCTCCTCTCACACCTGGGA	0.587000										HNSCC(7;0.00092)			3	11					0.184627	0.187367	0.184627	1	0
SLC5A8	160728	broad.mit.edu	37	12	101560422	101560422	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:101560422C>A	ENST00000536262.2	-	12	1934	c.1376G>T	c.(1375-1377)gGa>gTa	p.G459V		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	459					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TATTTGAGCTCCAATTCCAAC	0.398000													6	21					8.12818e-05	9.4606e-05	0.248553	1	0
DNAH5	1767	broad.mit.edu	37	5	13759056	13759056	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:13759056C>A	ENST00000265104.4	-	61	10422	c.10318G>T	c.(10318-10320)Gcc>Tcc	p.A3440S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3440	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)					TCCTGCATGGCCAGGAGATGG	0.542000									Kartagener syndrome				27	404					3.86903e-22	7.37848e-22	0.769981	1	0
PTPRD	5789	broad.mit.edu	37	9	8389344	8389344	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:8389344T>C	ENST00000381196.4	-	34	4817	c.4274A>G	c.(4273-4275)tAt>tGt	p.Y1425C	PTPRD_ENST00000397617.3_Missense_Mutation_p.Y1018C|PTPRD_ENST00000540109.1_Missense_Mutation_p.Y1425C|PTPRD_ENST00000360074.4_Missense_Mutation_p.Y1412C|PTPRD_ENST00000537002.1_Missense_Mutation_p.Y1015C|PTPRD_ENST00000358503.5_Missense_Mutation_p.Y1403C|PTPRD_ENST00000356435.5_Missense_Mutation_p.Y1425C|PTPRD_ENST00000355233.5_Missense_Mutation_p.Y1019C|PTPRD_ENST00000486161.1_Missense_Mutation_p.Y1018C|PTPRD_ENST00000397606.3_Missense_Mutation_p.Y1018C|PTPRD_ENST00000397611.3_Missense_Mutation_p.Y1015C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1425	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGTTGCAATATAGGCATTTTG	0.443000										TSP Lung(15;0.13)			27	96					0	0	0.706142	0	0
FLG	2312	broad.mit.edu	37	1	152275998	152275998	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:152275998G>T	ENST00000368799.1	-	3	11399	c.11364C>A	c.(11362-11364)caC>caA	p.H3788Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3788	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGTGTGGCTGTGATGGGACC	0.562000									Ichthyosis				145	612					8.72185e-76	1.84128e-75	0.870114	1	0
SCNN1G	6340	broad.mit.edu	37	16	23200890	23200890	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:23200890G>C	ENST00000300061.2	+	3	659	c.516G>C	c.(514-516)agG>agC	p.R172S		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	172					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GCAAGGCCAGGGACTTCTTCA	0.542000													47	236					0	0	0.870114	0	0
PREX1	57580	broad.mit.edu	37	20	47258775	47258775	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:47258775G>T	ENST00000396220.1	-	29	3728	c.3706C>A	c.(3706-3708)Ctc>Atc	p.L1236I	PREX1_ENST00000371941.3_Missense_Mutation_p.L1236I|PREX1_ENST00000496915.1_5'UTR			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1236					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGCCCCTTGAGGAGAGCATTG	0.597000													14	64					3.52763e-06	4.40043e-06	0.520397	1	0
POM121L12	285877	broad.mit.edu	37	7	53103574	53103574	+	Silent	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:53103574C>G	ENST00000408890.4	+	1	226	c.210C>G	c.(208-210)cgC>cgG	p.R70R		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	70										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AGTGGGGGCGCCCGGTGCCCA	0.711000													4	44					0	0	0.150653	0	0
OR4M1	441670	broad.mit.edu	37	14	20248820	20248820	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:20248820C>A	ENST00000315957.4	+	1	420	c.339C>A	c.(337-339)ttC>ttA	p.F113L		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CGGAGATGTTCTTGCTCACAG	0.483000													41	185					9.9998e-32	2.04582e-31	0.859065	1	0
NCKAP5	344148	broad.mit.edu	37	2	133542560	133542560	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:133542560G>T	ENST00000409261.1	-	14	2197	c.1824C>A	c.(1822-1824)gcC>gcA	p.A608A	NCKAP5_ENST00000317721.6_Silent_p.A608A|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	608							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TATCGGTGTCGGCAGCCAATG	0.483000													3	35					0.004672	0.00502988	0.115264	1	0
LRRTM4	80059	broad.mit.edu	37	2	76975884	76975884	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:76975884G>T	ENST00000409911.1	-	3	1936	c.1713C>A	c.(1711-1713)agC>agA	p.S571R	LRRTM4_ENST00000409093.1_Missense_Mutation_p.S570R|LRRTM4_ENST00000409884.1_Missense_Mutation_p.S570R	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	570						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TGGCGATGAAGCTGTGGTCTC	0.612000													15	214					0.000958276	0.00106695	0.557998	1	0
NCK1	4690	broad.mit.edu	37	3	136664879	136664879	+	Silent	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:136664879A>T	ENST00000469404.1	+	2	580	c.489A>T	c.(487-489)ccA>ccT	p.P163P	NCK1_ENST00000288986.2_Silent_p.P227P|NCK1_ENST00000481752.1_Silent_p.P227P	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN	NCK adaptor protein 1	227	SH3 2.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						AAAATGACCCAGAGTGGTGGA	0.378000													12	91					0	0	0.435327	0	0
KRTAP4-1	85285	broad.mit.edu	37	17	39340967	39340967	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:39340967G>A	ENST00000398472.1	-	1	627	c.140C>T	c.(139-141)cCa>cTa	p.P47L				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	47	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			AGAGCAGGATGGGCGGCAGCA	0.642000													8	61					0	0	0.361761	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192367	132192367	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:132192367C>A	ENST00000359827.3	-	2	2048	c.1086G>T	c.(1084-1086)caG>caT	p.Q362H	PLXNA4_ENST00000321063.4_Missense_Mutation_p.Q362H|PLXNA4_ENST00000423507.2_Missense_Mutation_p.Q362H|PLXNA4_ENST00000378539.5_Missense_Mutation_p.Q362H			Q9HCM2	PLXA4_HUMAN	plexin A4	362	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGTCATTTATCTGCTTCAAGA	0.557000													39	95					2.47872e-24	4.85802e-24	0.853193	1	0
TG	7038	broad.mit.edu	37	8	134108551	134108551	+	Silent	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:134108551A>T	ENST00000220616.4	+	43	7546	c.7506A>T	c.(7504-7506)gtA>gtT	p.V2502V	SLA_ENST00000517648.1_Intron|SLA_ENST00000338087.5_Intron|SLA_ENST00000395352.3_Intron|TG_ENST00000519543.1_Silent_p.V635V|SLA_ENST00000524345.1_Intron|TG_ENST00000377869.1_Silent_p.V2445V|TG_ENST00000542445.1_Silent_p.V872V|SLA_ENST00000518565.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2502					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTTTATGGGTAGAGGTCGATC	0.582000													49	238					0	0	0.870114	0	0
SDSL	113675	broad.mit.edu	37	12	113873239	113873239	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:113873239G>T	ENST00000403593.4	+	6	811	c.549G>T	c.(547-549)gtG>gtT	p.V183V	SDSL_ENST00000345635.4_Silent_p.V183V			Q96GA7	SDSL_HUMAN	serine dehydratase-like	183					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	CCGGGGTGGTGGCTGGCCTGC	0.667000													7	44					5.18039e-06	6.43472e-06	0.278610	1	0
RASA2	5922	broad.mit.edu	37	3	141327491	141327491	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:141327491G>C	ENST00000286364.3	+	21	2212	c.2177G>C	c.(2176-2178)tGc>tCc	p.C726S	RASA2_ENST00000452898.1_Missense_Mutation_p.C727S|RASA2_ENST00000509118.1_3'UTR			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	726					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AATTGGCTCTGCTGTCAGGAG	0.428000													8	58					0	0	0.387290	0	0
FLG2	388698	broad.mit.edu	37	1	152323232	152323232	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:152323232A>T	ENST00000388718.5	-	3	7102	c.7030T>A	c.(7030-7032)Tgg>Agg	p.W2344R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2344							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)			CCATGTTTCCAAACCTGACTT	0.458000													16	226					0	0	0.608945	0	0
FN1	2335	broad.mit.edu	37	2	216264065	216264065	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:216264065C>A	ENST00000354785.4	-	21	3632	c.3263G>T	c.(3262-3264)gGg>gTg	p.G1088V	FN1_ENST00000346544.3_Missense_Mutation_p.G1088V|FN1_ENST00000359671.1_Missense_Mutation_p.G1088V|FN1_ENST00000357009.2_Missense_Mutation_p.G1088V|FN1_ENST00000421182.1_Missense_Mutation_p.G1088V|FN1_ENST00000323926.6_Missense_Mutation_p.G1088V|FN1_ENST00000357867.4_Missense_Mutation_p.G1088V|FN1_ENST00000336916.4_Missense_Mutation_p.G1088V|FN1_ENST00000446046.1_Missense_Mutation_p.G1088V|FN1_ENST00000345488.5_Missense_Mutation_p.G1088V|FN1_ENST00000443816.1_Missense_Mutation_p.G1088V|FN1_ENST00000356005.4_Missense_Mutation_p.G1088V|FN1_ENST00000432072.2_Missense_Mutation_p.G1088V			P02751	FINC_HUMAN	fibronectin 1	1088	Fibronectin type-III 6.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATAGAGCTCCCAGGCTGCAC	0.423000													4	96					0.184627	0.187367	0.184627	1	0
CACNA1I	8911	broad.mit.edu	37	22	40055082	40055082	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:40055082C>A	ENST00000336649.4	+	15	2309	c.2309C>A	c.(2308-2310)aCc>aAc	p.T770N	CACNA1I_ENST00000402142.3_Missense_Mutation_p.T764N|CACNA1I_ENST00000407673.1_Missense_Mutation_p.T729N|CACNA1I_ENST00000400164.3_Missense_Mutation_p.T729N|CACNA1I_ENST00000404898.1_Missense_Mutation_p.T729N|CACNA1I_ENST00000401624.1_Missense_Mutation_p.T764N			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	764					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	AACGTGGCCACCTTCTGCATG	0.637000													23	58					2.89027e-11	4.45927e-11	0.624587	1	0
FANCM	57697	broad.mit.edu	37	14	45628454	45628454	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:45628454A>G	ENST00000267430.5	+	9	1637	c.1552A>G	c.(1552-1554)Aag>Gag	p.K518E	FANCM_ENST00000542564.2_Missense_Mutation_p.K492E|FANCM_ENST00000556036.1_Missense_Mutation_p.K518E	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	518	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GAAAAGCACGAAGGGTTTTAC	0.353000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				10	33					0	0	0.387290	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182676	57182676	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:57182676C>G	ENST00000504228.1	+	6	3113	c.3008C>G	c.(3007-3009)cCg>cGg	p.P1003R	KIAA1211_ENST00000541073.1_Missense_Mutation_p.P996R|KIAA1211_ENST00000264229.6_Missense_Mutation_p.P1003R			Q6ZU35	K1211_HUMAN	KIAA1211	1003	Pro-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCAAGTGAGCCGTCCAAGGAG	0.657000													6	24					0	0	0.248553	0	0
EPHA5	2044	broad.mit.edu	37	4	66467477	66467477	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:66467477G>T	ENST00000273854.3	-	3	1392	c.792C>A	c.(790-792)aaC>aaA	p.N264K	EPHA5_ENST00000354839.4_Missense_Mutation_p.N264K|EPHA5_ENST00000432638.2_Missense_Mutation_p.N264K|EPHA5_ENST00000511294.1_Missense_Mutation_p.N264K	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	264	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TCACAGAATGGTTGACACAGG	0.527000										TSP Lung(17;0.13)			5	49					5.9392e-07	7.72322e-07	0.217242	1	0
TRPV6	55503	broad.mit.edu	37	7	142575695	142575695	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:142575695C>A	ENST00000359396.3	-	2	458	c.213G>T	c.(211-213)aaG>aaT	p.K71N	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	71					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TCTGGTGCACCTTGCAATCCT	0.537000													13	87					1.37285e-15	2.38131e-15	0.500413	1	0
COL27A1	85301	broad.mit.edu	37	9	116930380	116930380	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:116930380T>C	ENST00000356083.3	+	3	936	c.545T>C	c.(544-546)cTg>cCg	p.L182P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	182	Laminin G-like.|TSP N-terminal.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GTGCCTGTCCTGCTGCCTTTC	0.657000													3	40					0	0	0.150653	0	0
RCC2	55920	broad.mit.edu	37	1	17735586	17735586	+	Nonstop_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:17735586T>A	ENST00000375436.4	-	13	1756	c.1569A>T	c.(1567-1569)tgA>tgT	p.*523C	RCC2_ENST00000375433.3_Nonstop_Mutation_p.*523C	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	0					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		TCCGGGAGCATCAGAGGGTTC	0.502000													26	133					0	0	0.740014	0	0
UTP14A	10813	broad.mit.edu	37	X	129053162	129053162	+	Silent	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:129053162C>G	ENST00000394422.3	+	7	577	c.549C>G	c.(547-549)ccC>ccG	p.P183P	UTP14A_ENST00000371042.3_Silent_p.P15P|UTP14A_ENST00000371051.5_Silent_p.P129P|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Silent_p.P131P	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	183					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CAAGAACTCCCCTGGAGCAGG	0.453000													21	58					0	0	0.717897	0	0
GLI2	2736	broad.mit.edu	37	2	121555001	121555001	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:121555001G>C	ENST00000452319.1	+	2	165	c.105G>C	c.(103-105)ttG>ttC	p.L35F	GLI2_ENST00000361492.4_Missense_Mutation_p.L35F|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	35					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTCTCCTTTGGTGGTGGCTG	0.592000													9	58					0	0	0.361761	0	0
DPP8	54878	broad.mit.edu	37	15	65759419	65759419	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:65759419C>T	ENST00000341861.5	-	13	3307	c.1727G>A	c.(1726-1728)tGc>tAc	p.C576Y	DPP8_ENST00000300141.6_Missense_Mutation_p.C560Y|DPP8_ENST00000358939.4_Missense_Mutation_p.C560Y|DPP8_ENST00000321147.6_Missense_Mutation_p.C576Y|DPP8_ENST00000321118.7_Missense_Mutation_p.C576Y|DPP8_ENST00000559233.1_Missense_Mutation_p.C576Y|DPP8_ENST00000339244.5_Missense_Mutation_p.C403Y	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	576					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTGACTGATGCAGCAAGAATG	0.413000													9	58					0	0	0.361761	0	0
MMRN1	22915	broad.mit.edu	37	4	90857691	90857691	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:90857691C>A	ENST00000394980.1	+	7	3179	c.2860C>A	c.(2860-2862)Cca>Aca	p.P954T	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.P696T|MMRN1_ENST00000264790.2_Missense_Mutation_p.P954T			Q13201	MMRN1_HUMAN	multimerin 1	954					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ACATTCCCTGCCAGATATTCA	0.353000													4	54					0.014758	0.0156261	0.184627	1	0
TRPM6	140803	broad.mit.edu	37	9	77354699	77354699	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:77354699C>A	ENST00000451710.3	-	33	5676	c.5439G>T	c.(5437-5439)gaG>gaT	p.E1813D	TRPM6_ENST00000449912.2_Missense_Mutation_p.E1804D|TRPM6_ENST00000360774.1_Missense_Mutation_p.E1809D|TRPM6_ENST00000376864.4_Missense_Mutation_p.E1813D|TRPM6_ENST00000376871.3_Missense_Mutation_p.E646D|TRPM6_ENST00000361255.3_Missense_Mutation_p.E1804D|TRPM6_ENST00000376872.3_Missense_Mutation_p.E764D			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1809	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCCGCACAACCTCAGGAAGAA	0.498000													25	173					7.41945e-09	1.04637e-08	0.693898	1	0
LRRC37A11P	342666	broad.mit.edu	37	17	37188568	37188568	+	RNA	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:37188568C>A	ENST00000425901.2	+	0	2410					NR_033753.2																						CAAGCACCAACATATGTGATC	0.512000													35	134					2.54651e-27	5.10795e-27	0.827153	1	0
WDR65	149465	broad.mit.edu	37	1	43650889	43650889	+	Silent	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:43650889T>C	ENST00000372492.4	+	5	1155	c.831T>C	c.(829-831)caT>caC	p.H277H	WDR65_ENST00000528956.1_Silent_p.H277H	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	277										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)				CCAGTAGCCATAGCCAGATGT	0.483000													38	189					0	0	0.853193	0	0
BFSP2	8419	broad.mit.edu	37	3	133169251	133169251	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:133169251G>T	ENST00000302334.2	+	4	923	c.834G>T	c.(832-834)caG>caT	p.Q278H	RP11-91K8.1_ENST00000515542.1_RNA|BFSP2_ENST00000511434.1_3'UTR	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	278	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						TCAGAATTCAGTGGGAGAGAG	0.542000													24	87					3.22433e-31	6.58997e-31	0.729181	1	0
GUCY1A3	2982	broad.mit.edu	37	4	156631835	156631835	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:156631835G>T	ENST00000296518.7	+	6	727	c.518G>T	c.(517-519)aGc>aTc	p.S173I	GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S173I|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S173I|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S173I|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S173I|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S173I|GUCY1A3_ENST00000393832.3_5'UTR			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	173				VIKESLGEEVFKICYEEDENILGVVGGTLKDFLNSFSTLLK QSSHCQEAGKRGR -> LSKNLLVKRFLKYVTRKMKTSLGW LEAPLKIFKQLQYPSETEQPLPRSRKKGQ (in Ref. 1).	blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTGAAACAGAGCAGCCATTGC	0.428000													6	35					2.0095e-06	2.53909e-06	0.248553	1	0
CSMD1	64478	broad.mit.edu	37	8	3432576	3432576	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:3432576C>A	ENST00000520002.1	-	11	1793	c.1238G>T	c.(1237-1239)gGa>gTa	p.G413V	CSMD1_ENST00000400186.3_Missense_Mutation_p.G413V|CSMD1_ENST00000602723.1_Missense_Mutation_p.G413V|CSMD1_ENST00000602557.1_Missense_Mutation_p.G413V|CSMD1_ENST00000542608.1_Missense_Mutation_p.G412V|CSMD1_ENST00000539096.1_Missense_Mutation_p.G412V|CSMD1_ENST00000537824.1_Missense_Mutation_p.G412V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	413	CUB 3.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGATTGGATCCACATGTTCT	0.443000													7	35					3.86212e-05	4.5625e-05	0.361761	1	0
TSHZ3	57616	broad.mit.edu	37	19	31770527	31770527	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:31770527T>A	ENST00000240587.4	-	2	499	c.172A>T	c.(172-174)Agc>Tgc	p.S58C		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	58					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTCTGGTAGCTGGGGCAGGCC	0.597000													4	53					0	0	0.150653	0	0
KCNS2	3788	broad.mit.edu	37	8	99440678	99440678	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:99440678C>T	ENST00000287042.4	+	2	821	c.471C>T	c.(469-471)gaC>gaT	p.D157D	KCNS2_ENST00000521839.1_Silent_p.D157D	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	157						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TCTACAACGACGCCTCCAAGT	0.607000													7	56					0	0	0.278610	0	0
ITGAD	3681	broad.mit.edu	37	16	31424172	31424172	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:31424172C>G	ENST00000389202.2	+	15	1770	c.1721C>G	c.(1720-1722)tCc>tGc	p.S574C		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	574					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATTGCCAGCTCCCAGCTCTCC	0.592000													20	115					0	0	0.639603	0	0
BAZ2B	29994	broad.mit.edu	37	2	160287626	160287626	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:160287626C>T	ENST00000392783.2	-	10	2437	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K	BAZ2B_ENST00000392782.1_Missense_Mutation_p.E646K|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E648K|BAZ2B_ENST00000343439.5_Intron	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	648	Asp/Glu-rich (acidic).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TCATCTTCTTCTTCTGATCCT	0.318000													8	34					0	0	0.335167	0	0
VPS54	51542	broad.mit.edu	37	2	64141351	64141351	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:64141351T>A	ENST00000354504.3	-	14	2429	c.1840A>T	c.(1840-1842)Act>Tct	p.T614S	VPS54_ENST00000409558.3_Missense_Mutation_p.T755S|VPS54_ENST00000272322.4_Missense_Mutation_p.T767S			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	767					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						AGCATGTCAGTAGTAACAGAT	0.353000													27	120					0	0	0.788014	0	0
RER1	11079	broad.mit.edu	37	1	2334554	2334554	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:2334554C>T	ENST00000605895.1	+	7	715	c.582C>T	c.(580-582)ttC>ttT	p.F194F	RER1_ENST00000378512.1_3'UTR|RER1_ENST00000378513.3_3'UTR|RER1_ENST00000488353.1_Silent_p.F194F	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	194				HAATKGILVAMVCTFFDAFNVPVFWPILVMYFIMLFCITMK RQIKHMIKYRYIPFTHGKRRYRGKEDAGKAFAS -> DASV CGDGRCSCKAGGGRQCPVLAADAALTFSPHLKACGYQGHPC GYGLYFLRRFQRPGVLADSGDVLHHALLYHDEEANQAHD (in Ref. 2; AAC72940).	retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		GCAAGGCCTTCGCCAGCTAGA	0.488000													25	101					0	0	0.693898	0	0
KLKB1	3818	broad.mit.edu	37	4	187172427	187172427	+	Silent	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:187172427T>C	ENST00000264690.6	+	8	1000	c.813T>C	c.(811-813)ccT>ccC	p.P271P	KLKB1_ENST00000513864.1_Silent_p.P271P	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	271	Apple 3.				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)		CCTCTACTCCTCAAGAAAACA	0.299000													25	128					0	0	0.788014	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92977530	92977530	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:92977530A>C	ENST00000268164.3	+	3	452	c.215A>C	c.(214-216)aAt>aCt	p.N72T	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.N51T	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	72					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GACAGAAGTAATGAAAGCATC	0.443000													23	106					0	0	0.667858	0	0
PSEN1	5663	broad.mit.edu	37	14	73659570	73659570	+	Missense_Mutation	SNP	A	A	G	rs63751320		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:73659570A>G	ENST00000324501.5	+	7	1039	c.767A>G	c.(766-768)tAt>tGt	p.Y256C	PSEN1_ENST00000357710.4_Missense_Mutation_p.Y252C|PSEN1_ENST00000557511.1_Missense_Mutation_p.Y256C|PSEN1_ENST00000344094.3_Missense_Mutation_p.Y256C|PSEN1_ENST00000394164.1_Missense_Mutation_p.Y252C|PSEN1_ENST00000261970.3_Missense_Mutation_p.Y256C|PSEN1_ENST00000406768.1_Missense_Mutation_p.Y164C	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	256					amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		ATTTCAGTATATGGTAAAACC	0.423000													27	95					0	0	0.760397	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373396	86373396	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:86373396C>A	ENST00000604798.1	-	8	2312	c.1108G>T	c.(1108-1110)Ggg>Tgg	p.G370W	MGAT4C_ENST00000393205.2_Missense_Mutation_p.G399W|MGAT4C_ENST00000549405.2_Missense_Mutation_p.G370W|MGAT4C_ENST00000332156.1_Missense_Mutation_p.G370W|MGAT4C_ENST00000548651.1_Missense_Mutation_p.G370W|MGAT4C_ENST00000552808.2_Missense_Mutation_p.G370W			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	370					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GGTGGTTTCCCCCAAAAGTAC	0.353000													7	13					2.7689e-08	3.84163e-08	0.248553	1	0
MYO3B	140469	broad.mit.edu	37	2	171240282	171240282	+	Silent	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:171240282A>T	ENST00000334231.6	+	12	1275	c.1275A>T	c.(1273-1275)gcA>gcT	p.A425A	MYO3B_ENST00000408978.4_Silent_p.A416A|MYO3B_ENST00000409044.3_Silent_p.A416A|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	416	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TTGCATCAGCAGATGCTGCTT	0.468000													13	140					0	0	0.539581	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276965	71276965	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:71276965A>C	ENST00000398531.1	+	1	357	c.332A>C	c.(331-333)aAg>aCg	p.K111T	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	111	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGGGGCTCCAAGGGGGGCTGT	0.677000													33	133					0	0	0.870114	0	0
DPP6	1804	broad.mit.edu	37	7	153584781	153584781	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:153584781G>T	ENST00000404039.1	+	1	600	c.13G>T	c.(13-15)Gcc>Tcc	p.A5S		NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GAAGGAAAAGGCCATGATCAA	0.572000													15	62					1.55795e-14	2.61827e-14	0.608945	1	0
HGF	3082	broad.mit.edu	37	7	81336652	81336652	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:81336652T>A	ENST00000222390.5	-	14	1796	c.1570A>T	c.(1570-1572)Ata>Tta	p.I524L	HGF_ENST00000457544.2_Missense_Mutation_p.I519L	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	524	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CTCTCCTTTATCAATGATCCT	0.368000													13	46					0	0	0.539581	0	0
CARD9	64170	broad.mit.edu	37	9	139266352	139266352	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:139266352T>A	ENST00000371732.5	-	2	344	c.179A>T	c.(178-180)aAa>aTa	p.K60I	CARD9_ENST00000315908.7_Missense_Mutation_p.K60I|CARD9_ENST00000371734.3_Missense_Mutation_p.K60I	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	60	CARD.				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CTGACCCACTTTCCGTTTGCG	0.642000													97	369					0	0	0.870114	0	0
MMEL1	79258	broad.mit.edu	37	1	2528053	2528053	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:2528053C>A	ENST00000288709.6	-	14	1561	c.1321G>T	c.(1321-1323)Gcc>Tcc	p.A441S	MMEL1_ENST00000502556.1_Missense_Mutation_p.A293S|MMEL1_ENST00000378412.3_Missense_Mutation_p.A450S	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	450					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GAGCCCACGGCGTTCTCCATG	0.647000													10	68					6.40141e-05	7.50611e-05	0.387290	1	0
RANBP2	5903	broad.mit.edu	37	2	109398747	109398747	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:109398747G>C	ENST00000283195.6	+	27	9050	c.8924G>C	c.(8923-8925)aGa>aCa	p.R2975T		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2975	RanBD1 4.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTAATGAGAAGAGACCAGGTT	0.388000													10	83					0	0	0.387290	0	0
GABRR2	2570	broad.mit.edu	37	6	89967431	89967431	+	Silent	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:89967431G>C	ENST00000402938.3	-	9	1489	c.1356C>G	c.(1354-1356)tcC>tcG	p.S452S	GABRR2_ENST00000602399.1_Silent_p.S477S			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	477					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		AAAATATGTAGGAGGCAGGGA	0.478000													5	19					0	0	0.184627	0	0
ADCY1	107	broad.mit.edu	37	7	45632425	45632425	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:45632425A>T	ENST00000297323.7	+	2	729	c.707A>T	c.(706-708)gAg>gTg	p.E236V	ADCY1_ENST00000432715.1_Missense_Mutation_p.E11V	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	236					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	ATTCTGACTGAGCGTTCACAG	0.587000													29	167					0	0	0.760397	0	0
ABHD12	26090	broad.mit.edu	37	20	25319884	25319884	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:25319884T>A	ENST00000339157.5	-	2	567	c.295A>T	c.(295-297)Aaa>Taa	p.K99*	ABHD12_ENST00000376542.3_Nonsense_Mutation_p.K99*	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	99						integral to membrane	acylglycerol lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						AAAATCAGTTTGGCCTGTATT	0.398000													3	48					0	0	0.150653	0	0
NDE1	54820	broad.mit.edu	37	16	15781254	15781254	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:15781254G>A	ENST00000396355.1	+	6	1235	c.409G>A	c.(409-411)Gac>Aac	p.D137N	NDE1_ENST00000342673.5_Missense_Mutation_p.D137N|NDE1_ENST00000396353.2_Missense_Mutation_p.D137N|NDE1_ENST00000396354.1_Missense_Mutation_p.D137N	NM_001143979.1	NP_001137451.1	Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	137	Interaction with PAFAH1B1 (By similarity).				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						GTCTCTCGAAGACTTTGAGCA	0.502000													12	55					0	0	0.479597	0	0
FRZB	2487	broad.mit.edu	37	2	183731175	183731175	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:183731175C>A	ENST00000295113.4	-	1	715	c.106G>T	c.(106-108)Gag>Tag	p.E36*		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	36	FZ.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			CGGACGGGCTCACAGGCTGCA	0.692000													3	21					0.00909568	0.00968067	0.150653	1	0
CLCN1	1180	broad.mit.edu	37	7	143036388	143036388	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:143036388G>A	ENST00000343257.2	+	13	1531	c.1444G>A	c.(1444-1446)Gga>Aga	p.G482R		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	482			G -> R (in MCR).		muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CATACCCTGCGGAGGCTTCAT	0.502000													82	333					0	0	0.870114	0	0
TMEM177	80775	broad.mit.edu	37	2	120438836	120438836	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:120438836G>T	ENST00000424086.1	+	2	880	c.407G>T	c.(406-408)gGc>gTc	p.G136V	TMEM177_ENST00000401466.1_Missense_Mutation_p.G136V|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.G136V	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	136						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					AGCCCAGCAGGCGCCCGGCTG	0.597000													54	252					6.66387e-47	1.39391e-46	0.870114	1	0
MBLAC2	153364	broad.mit.edu	37	5	89757166	89757166	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:89757166C>A	ENST00000316610.6	-	2	1133	c.658G>T	c.(658-660)Gac>Tac	p.D220Y		NM_203406.1	NP_981951.1	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2	220							hydrolase activity|metal ion binding			kidney(1)|liver(1)|lung(3)	5						AGACCTCTGTCCACTAATTCT	0.443000													12	75					0.00136819	0.00151187	0.411799	1	0
SPTSSA	171546	broad.mit.edu	37	14	34904505	34904505	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:34904505T>G	ENST00000298130.4	-	2	266	c.118A>C	c.(118-120)Atg>Ctg	p.M40L		NM_138288.3	NP_612145.2	Q969W0	SSPTA_HUMAN	serine palmitoyltransferase, small subunit A	40					sphingolipid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	protein binding										GAAACCAGCATGGAATCTGAG	0.383000													7	49					0	0	0.278610	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12836002	12836002	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:12836002C>A	ENST00000357726.4	+	2	631	c.604C>A	c.(604-606)Cta>Ata	p.L202I		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	202										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACGGTGGAGCTAGACTGTAT	0.527000													19	167					1.96895e-08	2.74103e-08	0.639603	1	0
AKR7A2	8574	broad.mit.edu	37	1	19630838	19630838	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:19630838C>A	ENST00000235835.3	-	7	982	c.961G>T	c.(961-963)Gag>Tag	p.E321*		NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	321					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAGCTGCTCCAGGCTGGAC	0.607000													18	123					5.45024e-15	9.27354e-15	0.654019	1	0
OVCH2	341277	broad.mit.edu	37	11	7726113	7726113	+	RNA	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:7726113T>A	ENST00000454689.1	-	0	196				OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		GAGACTCACCTGCCAGGGATA	0.413000													3	22					0	0	0.115264	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45567233	45567233	+	RNA	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:45567233C>T	ENST00000256692.5	-	0	1452					NR_037144.1															breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCATTTTTCACTTCTGTCAAA	0.478000													10	73					0	0	0.435327	0	0
NRAS	4893	broad.mit.edu	37	1	115256579	115256579	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:115256579C>T	ENST00000369535.4	-	3	385	c.132G>A	c.(130-132)gtG>gtA	p.V44V		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	44					activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity			NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATCTATAACCACTTGTTTTC	0.458000		50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			30	156					0	0	0.796494	0	0
DSP	1832	broad.mit.edu	37	6	7584584	7584584	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:7584584C>A	ENST00000379802.3	+	24	7430	c.7089C>A	c.(7087-7089)caC>caA	p.H2363Q	DSP_ENST00000418664.2_Missense_Mutation_p.H1764Q	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2363	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAAGGGCCACGGTATTCGCT	0.458000													16	57					9.16793e-09	1.28765e-08	0.520397	1	0
LOC645752	645752	broad.mit.edu	37	15	78219158	78219158	+	RNA	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:78219158G>T	ENST00000567226.1	-	0	30																											AGGTAGGGTTGGGGCCACATC	0.527000													5	83					3.86212e-05	4.5625e-05	0.361761	1	0
KMT2D	8085	broad.mit.edu	37	12	49425463	49425463	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:49425463C>A	ENST00000301067.7	-	39	13024	c.13025G>T	c.(13024-13026)gGg>gTg	p.G4342V		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TTTGGGGGTCCCTGGATGGGT	0.617000													3	13					0.00024832	0.000283873	0.150653	1	0
ADARB1	104	broad.mit.edu	37	21	46642076	46642076	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr21:46642076G>T	ENST00000539173.1	+	12	2625	c.2190G>T	c.(2188-2190)aaG>aaT	p.K730N	ADARB1_ENST00000348831.4_Missense_Mutation_p.K690N|ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000360697.3_Missense_Mutation_p.K730N|ADARB1_ENST00000389863.4_Intron	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	730	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		GGGTGGAGAAGCCCACCGAGC	0.647000													7	35					2.74318e-10	4.0672e-10	0.335167	1	0
RALYL	138046	broad.mit.edu	37	8	85686827	85686827	+	Silent	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:85686827A>T	ENST00000521268.1	+	3	1375	c.270A>T	c.(268-270)gcA>gcT	p.A90A	RALYL_ENST00000522455.1_Silent_p.A90A|RALYL_ENST00000521376.1_Silent_p.A17A|RALYL_ENST00000521695.1_Silent_p.A90A|RALYL_ENST00000518566.1_Silent_p.A90A|RALYL_ENST00000517638.1_Silent_p.A103A|RALYL_ENST00000523850.1_Silent_p.A17A	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	90	RRM.						identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TCAACATGGCAGGAGAGCCCA	0.338000													3	9					0	0	0.115264	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178553022	178553022	+	Missense_Mutation	SNP	G	G	T	rs151261888		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:178553022G>T	ENST00000251582.7	-	18	2828	c.2727C>A	c.(2725-2727)aaC>aaA	p.N909K		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	909	TSP type-1 2.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ATTCCTGTGGGTTGCACGCTC	0.652000													15	42					1.33834e-09	1.93399e-09	0.557998	1	0
SEMA6A	57556	broad.mit.edu	37	5	115782856	115782856	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:115782856G>T	ENST00000343348.6	-	19	3333	c.2546C>A	c.(2545-2547)aCa>aAa	p.T849K	SEMA6A_ENST00000282394.6_Missense_Mutation_p.T326K|SEMA6A_ENST00000510263.1_Missense_Mutation_p.T849K|SEMA6A_ENST00000503865.1_Missense_Mutation_p.T228K|SEMA6A_ENST00000513137.1_Missense_Mutation_p.T276K|SEMA6A_ENST00000257414.8_Missense_Mutation_p.T866K	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	849					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		ATACTCCAGTGTGGCGGCCTG	0.592000													7	379					0.000673444	0.000751445	0.361761	1	0
PDHA2	5161	broad.mit.edu	37	4	96762070	96762070	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:96762070G>A	ENST00000295266.4	+	1	832	c.769G>A	c.(769-771)Gtt>Att	p.V257I		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	257					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TGGAATGGATGTTCTGTGTGT	0.473000													14	60					0	0	0.457914	0	0
PRAMEF7	441871	broad.mit.edu	37	1	12979815	12979815	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:12979815C>A	ENST00000361079.2	+	4	1090	c.1007C>A	c.(1006-1008)cCt>cAt	p.P336H						PRAME family member 7											endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CATTTCAGCCCTGAGCCCCTC	0.577000													12	107					1.5842e-08	2.21594e-08	0.435327	1	0
HOXB3	3213	broad.mit.edu	37	17	46629511	46629511	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:46629511G>T	ENST00000470495.1	-	1	1773	c.326C>A	c.(325-327)cCc>cAc	p.P109H	HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000489475.1_Missense_Mutation_p.P36H|HOXB3_ENST00000311626.4_Missense_Mutation_p.P109H|HOXB3_ENST00000485909.2_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.P109H|HOXB3_ENST00000476342.1_Missense_Mutation_p.P109H|HOXB3_ENST00000472863.1_Missense_Mutation_p.P36H|HOXB3_ENST00000460160.1_Intron			P14651	HXB3_HUMAN	homeobox B3	109					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						ACTTTTGCTGGGCCCGCCCCC	0.652000													54	196					4.96213e-28	1.00219e-27	0.870114	1	0
IGKV1D-8	28904	broad.mit.edu	37	2	90259966	90259966	+	RNA	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:90259966C>A	ENST00000471857.1	+	0	250																											CCAGATGTGTCATCTGGATGA	0.443000													63	94					2.10938e-32	4.33712e-32	0.870114	1	0
USH2A	7399	broad.mit.edu	37	1	216424343	216424343	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:216424343C>G	ENST00000366943.2	-	12	2455	c.2069G>C	c.(2068-2070)gGc>gCc	p.G690A	USH2A_ENST00000307340.3_Missense_Mutation_p.G690A|USH2A_ENST00000366942.3_Missense_Mutation_p.G690A			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	690	Laminin EGF-like 3.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGACTGCAGCCATCAGGATC	0.463000										HNSCC(13;0.011)			9	46					0	0	0.361761	0	0
TRAV17	28666	broad.mit.edu	37	14	22466255	22466255	+	RNA	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:22466255G>A	ENST00000390445.2	+	0	332																											TCAGGTAGAGGCCTTGTCCAC	0.403000													8	41					0	0	0.335167	0	0
RYR1	6261	broad.mit.edu	37	19	38948696	38948696	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:38948696G>T	ENST00000355481.4	+	18	2062	c.1931G>T	c.(1930-1932)cGc>cTc	p.R644L	RYR1_ENST00000359596.3_Missense_Mutation_p.R644L|RYR1_ENST00000360985.3_Missense_Mutation_p.R644L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	644	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R644L(1)		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)	TGCAGCATCCGCCCCAACATC	0.567000													59	209					5.02462e-34	1.04147e-33	0.870114	1	0
KHDRBS3	10656	broad.mit.edu	37	8	136561090	136561090	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:136561090G>A	ENST00000355849.5	+	4	828	c.418G>A	c.(418-420)Gct>Act	p.A140T	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	140					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			ACCTGCAGAAGCTTATGCCAG	0.403000													6	36					0	0	0.248553	0	0
OR5M1	390168	broad.mit.edu	37	11	56380332	56380332	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:56380332A>T	ENST00000526538.1	-	1	646	c.647T>A	c.(646-648)cTg>cAg	p.L216Q		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AAGATAGGACAGAAGAATGAT	0.458000													6	21					0	0	0.217242	0	0
OR1C1	26188	broad.mit.edu	37	1	247921090	247921090	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:247921090C>A	ENST00000408896.2	-	1	892	c.619G>T	c.(619-621)Gct>Tct	p.A207S		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A207P(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGCGTGAGAGCCAATAGACCT	0.463000													5	41					0.00116845	0.00129323	0.217242	1	0
CYP4F3	4051	broad.mit.edu	37	19	15769319	15769319	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:15769319G>C	ENST00000221307.7	+	11	1316	c.1268G>C	c.(1267-1269)aGt>aCt	p.S423T	CYP4F3_ENST00000585846.1_Missense_Mutation_p.S423T|CYP4F3_ENST00000591058.1_Missense_Mutation_p.S423T|CYP4F3_ENST00000586182.1_Missense_Mutation_p.S423T	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	423					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGCCTCATCAGTGTTTTTGGA	0.617000													18	287					0	0	0.592651	0	0
BAI3	577	broad.mit.edu	37	6	69640555	69640555	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:69640555C>A	ENST00000370598.1	+	4	1683	c.862C>A	c.(862-864)Caa>Aaa	p.Q288K		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	288					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)				ATTTATGGCACAAACTGGTAA	0.348000													3	36					0.004672	0.00502988	0.115264	1	0
HIST1H1C	3006	broad.mit.edu	37	6	26056124	26056124	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:26056124T>A	ENST00000343677.2	-	1	575	c.533A>T	c.(532-534)aAg>aTg	p.K178M		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	178					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CTTCGCAACCTTGGCCTTCTT	0.557000													18	114					0	0	0.639603	0	0
SERPINF1	5176	broad.mit.edu	37	17	1673260	1673260	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:1673260C>A	ENST00000254722.4	+	3	362	c.199C>A	c.(199-201)Cgg>Agg	p.R67R	SERPINF1_ENST00000571870.1_3'UTR	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	67					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						TGACCTGTACCGGGTGCGATC	0.632000													18	132					7.87624e-14	1.30867e-13	0.639603	1	0
ARHGAP29	9411	broad.mit.edu	37	1	94654402	94654402	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:94654402T>C	ENST00000260526.6	-	15	1854	c.1672A>G	c.(1672-1674)Ata>Gta	p.I558V	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	558					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CCTGGACTTATAGATTCTGAA	0.358000													32	88					0	0	0.804634	0	0
ZNF423	23090	broad.mit.edu	37	16	49670920	49670920	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:49670920G>T	ENST00000561648.1	-	4	2196	c.2143C>A	c.(2143-2145)Cac>Aac	p.H715N	ZNF423_ENST00000535559.1_Missense_Mutation_p.H598N|ZNF423_ENST00000562871.1_Missense_Mutation_p.H655N|ZNF423_ENST00000567169.1_Missense_Mutation_p.H598N|ZNF423_ENST00000262383.2_Missense_Mutation_p.H715N|ZNF423_ENST00000563137.2_Missense_Mutation_p.H655N|ZNF423_ENST00000562520.1_Missense_Mutation_p.H655N	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	715					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				ACAAAGGTGTGCATGTCCAGC	0.542000													14	58					1.37285e-15	2.38131e-15	0.500413	1	0
FLG2	388698	broad.mit.edu	37	1	152327850	152327850	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:152327850G>T	ENST00000388718.5	-	3	2484	c.2412C>A	c.(2410-2412)tcC>tcA	p.S804S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	804	Ser-rich.						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)			CAAAGCCAGTGGATTGACTTG	0.527000													74	382					7.7321e-48	1.62066e-47	0.870114	1	0
IL36G	56300	broad.mit.edu	37	2	113736271	113736271	+	Splice_Site	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:113736271G>A	ENST00000259205.4	+	2	124		c.e2+1		IL36G_ENST00000376489.2_Splice_Site	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma						cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						TATCAATCAAGTGAATCAAAT	0.537000													10	67					0	0	0.411799	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59499436	59499436	+	Silent	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:59499436T>C	ENST00000307144.4	+	1	395	c.297T>C	c.(295-297)ctT>ctC	p.L99L	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	99					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	AACTTGCCCTTGTGGATCTTG	0.448000													19	128					0	0	0.608945	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834565	125834565	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:125834565C>T	ENST00000299308.3	+	2	628	c.620C>T	c.(619-621)cCa>cTa	p.P207L		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	207						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GAGGAGATCCCAGCCCTGCTC	0.642000													4	62					0	0	0.184627	0	0
FMN2	56776	broad.mit.edu	37	1	240371509	240371509	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:240371509C>A	ENST00000319653.9	+	5	3627	c.3397C>A	c.(3397-3399)Ccc>Acc	p.P1133T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1133	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.P1276T(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACCCCCTCCTCCCCCTCTTCC	0.716000													46	148					3.77215e-22	7.20713e-22	0.870114	1	0
OR2T34	127068	broad.mit.edu	37	1	248737382	248737382	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:248737382A>T	ENST00000328782.2	-	1	698	c.677T>A	c.(676-678)aTc>aAc	p.I226N		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGATGCAGGATGAGGGTGTA	0.562000													48	227					0	0	0.870114	0	0
OR5P2	120065	broad.mit.edu	37	11	7817813	7817813	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:7817813G>C	ENST00000329434.2	-	1	707	c.677C>G	c.(676-678)tCc>tGc	p.S226C	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCCCTCAGTGGAGCGCATCTT	0.488000													14	114					0	0	0.539581	0	0
CACNA1E	777	broad.mit.edu	37	1	181686417	181686417	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:181686417C>A	ENST00000526775.1	+	11	1669	c.1504C>A	c.(1504-1506)Cag>Aag	p.Q502K	CACNA1E_ENST00000357570.5_Missense_Mutation_p.Q453K|CACNA1E_ENST00000360108.3_Missense_Mutation_p.Q502K|CACNA1E_ENST00000367573.2_Missense_Mutation_p.Q502K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.Q502K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.Q453K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.Q109K	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	502					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAACCAGCCCCAGTGGCTCAC	0.537000													16	105					2.39556e-15	4.11012e-15	0.639603	1	0
CSTA	1475	broad.mit.edu	37	3	122060322	122060322	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:122060322G>A	ENST00000264474.3	+	3	254	c.205G>A	c.(205-207)Gta>Ata	p.V69I		NM_005213.3	NP_005204.1	P01040	CYTA_HUMAN	cystatin A (stefin A)	69					keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity|protease binding|protein binding, bridging|structural molecule activity			large_intestine(2)|lung(2)	4				GBM - Glioblastoma multiforme(114;0.155)		GCACTTGAAAGTATTCAAAAG	0.383000													11	58					0	0	0.457914	0	0
XIRP2	129446	broad.mit.edu	37	2	168105198	168105198	+	Silent	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:168105198T>C	ENST00000409195.1	+	9	7385	c.7296T>C	c.(7294-7296)caT>caC	p.H2432H	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.H2210H|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Silent_p.H2432H|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2257					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						TTCCCAAGCATATAAAAGATA	0.408000													3	93					0	0	0.150653	0	0
VPS54	51542	broad.mit.edu	37	2	64193019	64193019	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:64193019C>A	ENST00000354504.3	-	4	812	c.223G>T	c.(223-225)Ggt>Tgt	p.G75C	VPS54_ENST00000409558.3_Missense_Mutation_p.G180C|VPS54_ENST00000272322.4_Missense_Mutation_p.G192C			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	192					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						CCTTTTCCACCAGCAGTATTA	0.323000													8	39					0.000274275	0.000312327	0.307466	1	0
ATP11A	23250	broad.mit.edu	37	13	113490564	113490564	+	Splice_Site	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr13:113490564A>T	ENST00000487903.1	+	16	1792	c.1705_splice	c.e16+1	p.T568_splice	ATP11A_ENST00000375645.3_Splice_Site_p.T568_splice|ATP11A_ENST00000283558.8_Splice_Site_p.T568_splice|ATP11A_ENST00000375630.2_Splice_Site_p.T568_splice			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	568					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				AATCTGCTACAGGTAAAATTT	0.333000													8	35					0	0	0.361761	0	0
HERC2P4	100289574	broad.mit.edu	37	16	32163564	32163564	+	RNA	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:32163564C>A	ENST00000564145.1	-	0	65																											TTTGGCCGCCCAGGCACAGGC	0.592000													6	49					5.18039e-06	6.43472e-06	0.278610	1	0
DOCK9	23348	broad.mit.edu	37	13	99582499	99582499	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr13:99582499T>C	ENST00000376460.1	-	3	336	c.256A>G	c.(256-258)Aga>Gga	p.R86G	DOCK9_ENST00000448493.2_Missense_Mutation_p.R98G|DOCK9_ENST00000339416.2_Missense_Mutation_p.R87G|DOCK9_ENST00000442173.1_Missense_Mutation_p.R86G	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	87	Interaction with activated CDC42 (By similarity).				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCCTGTCGTCTCAGGATGGCC	0.532000													3	11					0	0	0.150653	0	0
KIAA0586	9786	broad.mit.edu	37	14	58897413	58897413	+	Silent	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:58897413A>T	ENST00000423743.3	+	3	321	c.63A>T	c.(61-63)atA>atT	p.I21I	KIAA0586_ENST00000556134.1_Silent_p.I91I|KIAA0586_ENST00000261244.5_Silent_p.I106I|KIAA0586_ENST00000354386.6_Silent_p.I118I	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	106										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGGATAAAATAGAAGAGAACA	0.269000													9	36					0	0	0.411799	0	0
ZNF713	349075	broad.mit.edu	37	7	56007003	56007003	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:56007003G>T	ENST00000429591.2	+	4	635	c.597G>T	c.(595-597)caG>caT	p.Q199H	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTGACACACAGGGAAACAGCA	0.358000													8	63					3.86212e-05	4.5625e-05	0.361761	1	0
ZNF75D	7626	broad.mit.edu	37	X	134421212	134421212	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:134421212G>T	ENST00000370766.3	-	7	4099	c.1390C>A	c.(1390-1392)Ctt>Att	p.L464I	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.L369I	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	464					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TGTTTAATAAGGTGGGAGTTC	0.408000													17	40					7.45023e-12	1.18327e-11	0.592651	1	0
NACA	4666	broad.mit.edu	37	12	57108150	57108150	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:57108150C>T	ENST00000454682.1	-	5	6100	c.5819G>A	c.(5818-5820)cGg>cAg	p.R1940Q	NACA_ENST00000552540.1_Missense_Mutation_p.R77Q|NACA_ENST00000548563.1_5'UTR|NACA_ENST00000356769.3_Missense_Mutation_p.R77Q|NACA_ENST00000551793.1_5'UTR|NACA_ENST00000393891.4_Missense_Mutation_p.R77Q|NACA_ENST00000546392.1_Missense_Mutation_p.R77Q|NACA_ENST00000550952.1_Missense_Mutation_p.R787Q	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	77					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TCTTACCTTCCGTGCCTTCTT	0.393000			T	BCL6	NHL								13	65					0	0	0.520397	0	0
CXCR1	3577	broad.mit.edu	37	2	219029206	219029206	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:219029206G>T	ENST00000295683.2	-	2	849	c.729C>A	c.(727-729)gtC>gtA	p.V243V		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	243					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						CAGCAAAGATGACCCTCATGG	0.562000													26	139					4.02929e-09	5.75372e-09	0.750413	1	0
ZSCAN20	7579	broad.mit.edu	37	1	33960937	33960937	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:33960937A>T	ENST00000361328.3	+	8	3146	c.2993A>T	c.(2992-2994)cAg>cTg	p.Q998L		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	998					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGCTTTAACCAGAGCTCCAGT	0.463000													11	54					0	0	0.411799	0	0
KRT26	353288	broad.mit.edu	37	17	38922842	38922842	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:38922842G>A	ENST00000335552.4	-	8	1380	c.1332C>T	c.(1330-1332)gtC>gtT	p.V444V		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	444	Tail.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CAACTGAGTGGACTCTCAGTG	0.333000													12	88					0	0	0.457914	0	0
CLCNKB	1188	broad.mit.edu	37	1	16378694	16378694	+	Splice_Site	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:16378694G>T	ENST00000375679.4	+	15	1521	c.1408_splice	c.e15-1	p.G470_splice	CLCNKB_ENST00000375667.3_Splice_Site_p.G301_splice	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTTGCAGGGGCTGCAGCCT	0.652000													12	56					1.3612e-06	1.74248e-06	0.479597	1	0
TFDP3	51270	broad.mit.edu	37	X	132351529	132351529	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:132351529G>A	ENST00000310125.4	-	1	847	c.759C>T	c.(757-759)caC>caT	p.H253H		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	253	Involved in negatively regulating E2F activity.					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TGAAGGGCACGTGGATGACTG	0.478000													55	93					0	0	0.870114	0	0
OR4N2	390429	broad.mit.edu	37	14	20296255	20296255	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:20296255C>A	ENST00000315947.1	+	1	648	c.648C>A	c.(646-648)gcC>gcA	p.A216A	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCTTCTGGCCTCCTATGCAG	0.493000													9	80					0.00621372	0.00666173	0.335167	1	0
KRTAP4-1	85285	broad.mit.edu	37	17	39340968	39340968	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:39340968G>T	ENST00000398472.1	-	1	626	c.139C>A	c.(139-141)Cca>Aca	p.P47T				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	47	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GAGCAGGATGGGCGGCAGCAG	0.642000													8	60					4.68919e-08	6.42767e-08	0.361761	1	0
MAGEC1	9947	broad.mit.edu	37	X	140993205	140993205	+	Translation_Start_Site	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:140993205T>A	ENST00000406005.2	+	0	131				MAGEC1_ENST00000285879.4_Missense_Mutation_p.D5E			O60732	MAGC1_HUMAN	melanoma antigen family C, 1								protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGGACAAGGATATGCCTACTG	0.532000										HNSCC(15;0.026)			3	59					0	0	0.115264	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473090	22473090	+	RNA	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:22473090G>A	ENST00000557788.2	-	0	180																											CCCTTCCCTGGGGGCTGGCGG	0.582000													16	154					0	0	0.667858	0	0
ZNF257	113835	broad.mit.edu	37	19	22271877	22271877	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:22271877G>C	ENST00000594947.1	+	4	1469	c.1325G>C	c.(1324-1326)cGg>cCg	p.R442P		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GCCTTTAACCGGTCTTCATAC	0.403000													8	35					0	0	0.387290	0	0
KIF13B	23303	broad.mit.edu	37	8	29120525	29120525	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:29120525C>A	ENST00000524189.1	-	1	65	c.27G>T	c.(25-27)gcG>gcT	p.A9A	KIF13B_ENST00000521515.1_Silent_p.A9A	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	9	Kinesin-motor.				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GTATCCGCACCGCCACTTTCA	0.726000													4	27					0.0215528	0.0226801	0.217242	1	0
CCIN	881	broad.mit.edu	37	9	36170263	36170263	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:36170263G>T	ENST00000335119.2	+	1	875	c.764G>T	c.(763-765)aGt>aTt	p.S255I		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	255					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CTGATTGAGAGTGTCCTGATG	0.557000													5	34					2.0095e-06	2.53909e-06	0.248553	1	0
PODN	127435	broad.mit.edu	37	1	53541643	53541643	+	Splice_Site	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:53541643G>T	ENST00000371500.3	+	7	1009	c.668_splice	c.e7+1	p.R223_splice	RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Intron|PODN_ENST00000312553.5_Splice_Site_p.R242_splice	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	194					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCAAACTTGAGGTCAGAGGTC	0.617000													5	8					3.59834e-05	4.28791e-05	0.217242	1	0
GCSAML	148823	broad.mit.edu	37	1	247712406	247712406	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:247712406C>A	ENST00000366490.3	+	4	433	c.275C>A	c.(274-276)cCt>cAt	p.P92H	GCSAML_ENST00000531662.1_3'UTR|GCSAML_ENST00000366488.4_5'UTR|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_5'UTR|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_5'UTR					germinal center-associated, signaling and motility-like																		AACGTCCTGCCTCATGCATTT	0.532000													3	19					0.115264	0.118498	0.115264	1	0
ATP12A	479	broad.mit.edu	37	13	25268628	25268628	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr13:25268628C>A	ENST00000218548.6	+	11	1775	c.1442C>A	c.(1441-1443)tCa>tAa	p.S481*	ATP12A_ENST00000381946.3_Nonsense_Mutation_p.S475*	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	475					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TTAAAATTCTCAGAGGTCATT	0.353000											OREG0022298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	65					6.40141e-05	7.50611e-05	0.387290	1	0
MRAP	56246	broad.mit.edu	37	21	33684058	33684058	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr21:33684058C>A	ENST00000399784.2	+	5	457	c.270C>A	c.(268-270)atC>atA	p.I90I	MRAP_ENST00000497833.1_3'UTR|URB1_ENST00000382751.3_3'UTR|MRAP_ENST00000399786.3_Intron|MRAP_ENST00000303645.5_Silent_p.I90I|MRAP_ENST00000339944.4_Intron	NM_178817.3	NP_848932.1	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	90					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			endometrium(1)|large_intestine(2)|lung(3)	6						ACCTCTGCATCCAGAAGTGCC	0.622000													21	118					2.89027e-11	4.45927e-11	0.624587	1	0
COL12A1	1303	broad.mit.edu	37	6	75885000	75885000	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:75885000C>A	ENST00000322507.8	-	13	2773	c.2464G>T	c.(2464-2466)Gtt>Ttt	p.V822F	COL12A1_ENST00000483888.2_Missense_Mutation_p.V822F|COL12A1_ENST00000416123.2_Missense_Mutation_p.V822F|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	822	Fibronectin type-III 5.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGGTCAGAAACTCTTAAGTCT	0.378000													5	34					0.217242	0.220139	0.217242	1	0
MYBPC1	4604	broad.mit.edu	37	12	101988855	101988855	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:101988855G>C	ENST00000549145.1	+	1	107	c.7G>C	c.(7-9)Gaa>Caa	p.E3Q	MYBPC1_ENST00000547509.1_Missense_Mutation_p.E3Q|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E3Q|MYBPC1_ENST00000541119.1_Missense_Mutation_p.E3Q|MYBPC1_ENST00000547405.1_Missense_Mutation_p.E3Q|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E3Q|MYBPC1_ENST00000550270.1_Missense_Mutation_p.E3Q|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E3Q|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E3Q|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E3Q|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E3Q|MYBPC1_ENST00000550501.1_3'UTR|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E3Q|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E3Q|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E3Q|MYBPC1_ENST00000551300.1_5'UTR			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	3					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GGCCATGCCAGAACCCACTAA	0.398000													4	49					0	0	0.217242	0	0
BCAN	63827	broad.mit.edu	37	1	156616667	156616667	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:156616667C>A	ENST00000329117.4	+	3	502	c.166C>A	c.(166-168)Cct>Act	p.P56T	BCAN_ENST00000361588.5_Missense_Mutation_p.P56T|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	56	Ig-like V-type.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTCACCATCCCTTGCCACGT	0.721000													3	24					0.115264	0.118498	0.115264	1	0
RYR2	6262	broad.mit.edu	37	1	237947222	237947222	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:237947222G>T	ENST00000366574.2	+	90	12527	c.12210G>T	c.(12208-12210)gcG>gcT	p.A4070A	RYR2_ENST00000360064.6_Silent_p.A4076A|RYR2_ENST00000542537.1_Silent_p.A4054A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4070					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.A4068A(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTCTTGTGCGGAGACGGATG	0.512000													6	15					3.59834e-05	4.28791e-05	0.217242	1	0
RFC1	5981	broad.mit.edu	37	4	39344009	39344009	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:39344009C>A	ENST00000381897.1	-	4	420	c.287G>T	c.(286-288)gGt>gTt	p.G96V	RFC1_ENST00000349703.2_Missense_Mutation_p.G96V|RFC1_ENST00000418436.1_5'UTR	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	96					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGAAATTTTACCAGGTTTAGA	0.383000													7	73					2.17888e-05	2.62694e-05	0.335167	1	0
HMCN1	83872	broad.mit.edu	37	1	186158957	186158957	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:186158957G>T	ENST00000271588.4	+	107	17084	c.16855G>T	c.(16855-16857)Gaa>Taa	p.E5619*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.E5502*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5619					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						TGGGACCATTGAATATCAGAC	0.448000													4	108					0.150653	0.154185	0.150653	1	0
ASPRV1	151516	broad.mit.edu	37	2	70188089	70188089	+	Missense_Mutation	SNP	C	C	A	rs138437547		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:70188089C>A	ENST00000320256.4	-	1	1308	c.732G>T	c.(730-732)aaG>aaT	p.K244N		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	244	Peptidase A2.				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						CATTGGCCACCTTTACCACAT	0.562000													17	66					2.37509e-13	3.90207e-13	0.592651	1	0
ADAMTS4	9507	broad.mit.edu	37	1	161165308	161165308	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:161165308G>C	ENST00000367996.4	-	4	1636	c.1208C>G	c.(1207-1209)cCc>cGc	p.P403R	ADAMTS4_ENST00000478394.1_5'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	403	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGGGGACCAGGGCTCCTCAGG	0.547000													50	154					0	0	0.870114	0	0
PRR5L	79899	broad.mit.edu	37	11	36422705	36422705	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:36422705G>T	ENST00000378867.3	+	3	389	c.34G>T	c.(34-36)Gag>Tag	p.E12*	PRR5L_ENST00000527487.1_Nonsense_Mutation_p.E12*|PRR5L_ENST00000389693.3_Intron|PRR5L_ENST00000311599.5_5'UTR|PRR5L_ENST00000530639.1_Nonsense_Mutation_p.E12*	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	12										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						TCTGCCCGTCGAGTTCCACAA	0.607000													17	35					1.10513e-12	1.78702e-12	0.624587	1	0
MEOX2	4223	broad.mit.edu	37	7	15652089	15652089	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:15652089G>T	ENST00000262041.5	-	3	1247	c.838C>A	c.(838-840)Ctc>Atc	p.L280I		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	280					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		GTTTGCTGGAGGGTGGCTGCA	0.522000													6	130					0.000157383	0.000181637	0.278610	1	0
MTMR4	9110	broad.mit.edu	37	17	56573545	56573545	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:56573545C>A	ENST00000323456.5	-	16	2082	c.1958G>T	c.(1957-1959)gGa>gTa	p.G653V	MTMR4_ENST00000579925.1_Missense_Mutation_p.G596V	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	653						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTCTCTGATCCCTCAGGATT	0.567000													10	63					5.50884e-06	6.79743e-06	0.411799	1	0
ZCCHC24	219654	broad.mit.edu	37	10	81146192	81146192	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:81146192C>A	ENST00000372336.3	-	4	821	c.635G>T	c.(634-636)gGc>gTc	p.G212V	RP11-342M3.5_ENST00000438554.2_RNA|ZCCHC24_ENST00000372333.3_Silent_p.R152R	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	212							nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						CACGTCCAGGCCGTCGGGCTT	0.632000													5	29					0.248553	0.251618	0.248553	1	0
STXBP5L	9515	broad.mit.edu	37	3	120957921	120957921	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:120957921T>A	ENST00000273666.6	+	13	1559	c.1288T>A	c.(1288-1290)Tat>Aat	p.Y430N	STXBP5L_ENST00000471454.1_Missense_Mutation_p.Y430N|STXBP5L_ENST00000472879.1_Missense_Mutation_p.Y430N|STXBP5L_ENST00000492541.1_Missense_Mutation_p.Y430N|STXBP5L_ENST00000497029.1_Missense_Mutation_p.Y430N	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	430					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TCTAGTACTGTATTCTATAGG	0.318000													15	51					0	0	0.575678	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768670	31768670	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:31768670C>A	ENST00000240587.4	-	2	2356	c.2029G>T	c.(2029-2031)Ggg>Tgg	p.G677W		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	677					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCCTTGCACCCATCCCGCGGG	0.647000													9	110					3.07112e-06	3.8403e-06	0.387290	1	0
PRDM15	63977	broad.mit.edu	37	21	43221631	43221631	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr21:43221631G>A	ENST00000422911.1	-	25	3467	c.3366C>T	c.(3364-3366)ccC>ccT	p.P1122P	PRDM15_ENST00000538201.1_Silent_p.P1085P|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000447207.2_Silent_p.P1065P|PRDM15_ENST00000269844.3_Silent_p.P1431P|PRDM15_ENST00000398548.1_Silent_p.P1102P			P57071	PRD15_HUMAN	PR domain containing 15	1431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CTTCCGGCTGGGGGTGGATCT	0.582000													19	85					0	0	0.592651	0	0
TAAR2	9287	broad.mit.edu	37	6	132939046	132939046	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:132939046C>G	ENST00000275191.2	-	1	271	c.164G>C	c.(163-165)aGt>aCt	p.S55T	TAAR2_ENST00000367931.1_Missense_Mutation_p.S100T|TAAR2_ENST00000537809.1_Missense_Mutation_p.S55T	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	100						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		TCTGATCATACTATATGGCAT	0.413000													6	118					0	0	0.248553	0	0
NAT1	9	broad.mit.edu	37	8	18080316	18080316	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:18080316G>A	ENST00000539092.1	+	5	1451	c.760G>A	c.(760-762)Gag>Aag	p.E254K	NAT1_ENST00000541942.1_Missense_Mutation_p.E254K|NAT1_ENST00000520546.1_Missense_Mutation_p.E254K|NAT1_ENST00000517492.1_Missense_Mutation_p.E254K|NAT1_ENST00000518029.1_Missense_Mutation_p.E254K|NAT1_ENST00000307719.4_Missense_Mutation_p.E254K|NAT1_ENST00000545197.1_Missense_Mutation_p.E316K|NAT1_ENST00000535084.1_Missense_Mutation_p.E254K	NM_001160170.1|NM_001160172.1	NP_001153642.1|NP_001153644.1	P18440	ARY1_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	254					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		AGATCTAATAGAGTTCAAGAC	0.388000													4	36					0	0	0.150653	0	0
TMEM132D	121256	broad.mit.edu	37	12	129566433	129566433	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:129566433C>A	ENST00000422113.2	-	7	2120	c.1794G>T	c.(1792-1794)ctG>ctT	p.L598L	TMEM132D_ENST00000389441.4_Silent_p.L136L	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	598						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGTCTGAGCCCAGCAGGTGGG	0.647000													27	73					3.67414e-24	7.18032e-24	0.760397	1	0
SVEP1	79987	broad.mit.edu	37	9	113173941	113173941	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:113173941A>T	ENST00000401783.2	-	37	6386	c.6050T>A	c.(6049-6051)cTg>cAg	p.L2017Q	SVEP1_ENST00000374469.1_Missense_Mutation_p.L1994Q|SVEP1_ENST00000297826.5_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2017	Sushi 10.				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						GGAGACAGCCAGGCACTGCTG	0.527000													5	14					0	0	0.217242	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77528683	77528683	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:77528683C>A	ENST00000477717.1	+	5	1038	c.803C>A	c.(802-804)cCt>cAt	p.P268H		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	268					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						CCTTCAGTACCTTATCATTAT	0.393000													14	80					1.05317e-09	1.53053e-09	0.457914	1	0
ATP9A	10079	broad.mit.edu	37	20	50226671	50226671	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:50226671C>A	ENST00000338821.5	-	24	2869	c.2605G>T	c.(2605-2607)Gtc>Ttc	p.V869F	ATP9A_ENST00000311637.5_Missense_Mutation_p.V733F|ATP9A_ENST00000402822.1_Missense_Mutation_p.V748F	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	869					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(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TAGAGAGGGACGGAGGCAAAG	0.413000													17	48					1.40151e-16	2.48565e-16	0.592651	1	0
SACS	26278	broad.mit.edu	37	13	23915178	23915178	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr13:23915178C>A	ENST00000382298.3	-	10	3425	c.2837G>T	c.(2836-2838)gGt>gTt	p.G946V	SACS_ENST00000402364.1_Missense_Mutation_p.G196V|SACS_ENST00000382292.3_Missense_Mutation_p.G946V	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	946					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)		GACTTTACAACCTTTCAATTT	0.373000													6	61					2.0095e-06	2.53909e-06	0.248553	1	0
PLEC	5339	broad.mit.edu	37	8	145003677	145003677	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:145003677G>A	ENST00000322810.4	-	24	3566	c.3397C>T	c.(3397-3399)Ctg>Ttg	p.L1133L	PLEC_ENST00000436759.2_Silent_p.L1023L|PLEC_ENST00000354589.3_Silent_p.L996L|PLEC_ENST00000527096.1_Silent_p.L1019L|PLEC_ENST00000357649.2_Silent_p.L1000L|PLEC_ENST00000398774.2_Silent_p.L964L|PLEC_ENST00000356346.3_Silent_p.L982L|PLEC_ENST00000354958.2_Silent_p.L974L|PLEC_ENST00000345136.3_Silent_p.L996L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1133	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAGGCCTCCAGCTGCAGCCGG	0.677000													7	53					0	0	0.335167	0	0
HOXA1	3198	broad.mit.edu	37	7	27135178	27135178	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:27135178G>T	ENST00000343060.4	-	1	415	c.354C>A	c.(352-354)gaC>gaA	p.D118E	HOXA1_ENST00000355633.5_Splice_Site_p.D118_splice	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	118						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CACCACTTACGTCTGCTTCCT	0.562000													6	132					2.7689e-08	3.84163e-08	0.248553	1	0
TCHH	7062	broad.mit.edu	37	1	152081321	152081321	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:152081321C>T	ENST00000368804.1	-	2	4371	c.4372G>A	c.(4372-4374)Gag>Aag	p.E1458K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1458	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTGACGCTCCTGGCGCAGC	0.562000													24	126					0	0	0.706142	0	0
FUT8	2530	broad.mit.edu	37	14	66136117	66136117	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:66136117A>T	ENST00000360689.5	+	7	2481	c.754A>T	c.(754-756)Act>Tct	p.T252S	FUT8_ENST00000394585.1_Missense_Mutation_p.T252S|FUT8_ENST00000358307.2_Missense_Mutation_p.T123S|FUT8_ENST00000554765.1_3'UTR|FUT8_ENST00000557164.1_Missense_Mutation_p.T89S|FUT8_ENST00000394586.2_Missense_Mutation_p.T252S	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	252					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		GCGCTATGCTACTGGTGGATG	0.502000													4	101					0	0	0.217242	0	0
NEBL	10529	broad.mit.edu	37	10	21250675	21250675	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:21250675C>A	ENST00000417816.2	-	4	636	c.283G>T	c.(283-285)Ggg>Tgg	p.G95W	NEBL_ENST00000377159.4_Missense_Mutation_p.G61W	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	759					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAGCCCCTCCCTTTGCTTTCT	0.473000													16	137					2.35188e-11	3.66443e-11	0.539581	1	0
SESTD1	91404	broad.mit.edu	37	2	180008479	180008479	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:180008479C>A	ENST00000428443.3	-	9	1005	c.689G>T	c.(688-690)gGa>gTa	p.G230V		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	230					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGAAACCCCTCCGTCTGAGCC	0.388000													14	91					3.8784e-16	6.79632e-16	0.608945	1	0
SLC5A10	125206	broad.mit.edu	37	17	18916819	18916819	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:18916819T>A	ENST00000317977.6	+	9	1449	c.878T>A	c.(877-879)cTg>cAg	p.L293Q	SLC5A10_ENST00000395647.2_Missense_Mutation_p.L376Q|SLC5A10_ENST00000395645.3_Missense_Mutation_p.L360Q|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Missense_Mutation_p.L293Q|SLC5A10_ENST00000395643.2_Missense_Mutation_p.L333Q			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	360					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						GTCATGGAACTGATGCCCATC	0.657000													23	63					0	0	0.717897	0	0
OR2AK2	391191	broad.mit.edu	37	1	248128657	248128657	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:248128657C>A	ENST00000366480.3	+	1	123	c.24C>A	c.(22-24)tcC>tcA	p.S8S	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			atgtcatctCCTTTGATATTT	0.338000													13	42					0.00185496	0.00204205	0.435327	1	0
C4orf21	55345	broad.mit.edu	37	4	113538965	113538965	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:113538965G>A	ENST00000505019.1	-	6	2358	c.2233C>T	c.(2233-2235)Cag>Tag	p.Q745*	C4orf21_ENST00000309071.5_Nonsense_Mutation_p.Q745*|C4orf21_ENST00000445203.2_Nonsense_Mutation_p.Q714*	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	745										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TAGTGATTCTGATTGGTATTT	0.338000													8	67					0	0	0.307466	0	0
COL22A1	169044	broad.mit.edu	37	8	139703067	139703067	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:139703067A>T	ENST00000303045.6	-	36	3251	c.2805T>A	c.(2803-2805)agT>agA	p.S935R	COL22A1_ENST00000435777.1_Missense_Mutation_p.S935R|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	935	Collagen-like 8.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TACTCACCACACTTCCTGGAG	0.547000										HNSCC(7;0.00092)			3	45					0	0	0.184627	0	0
HUWE1	10075	broad.mit.edu	37	X	53644371	53644371	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:53644371G>A	ENST00000342160.3	-	19	2166	c.1709C>T	c.(1708-1710)cCa>cTa	p.P570L	HUWE1_ENST00000218328.8_Missense_Mutation_p.P570L|HUWE1_ENST00000262854.6_Missense_Mutation_p.P570L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	570					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GAGCAGTGATGGTTCTTGAAA	0.383000													5	8					0	0	0.278610	0	0
TMEM131	23505	broad.mit.edu	37	2	98373665	98373665	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:98373665T>A	ENST00000186436.5	-	41	5777	c.5549A>T	c.(5548-5550)gAc>gTc	p.D1850V		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1850						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCCAAGTCGTCAGCTGGACT	0.572000													10	39					0	0	0.387290	0	0
GFRA1	2674	broad.mit.edu	37	10	117856249	117856249	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:117856249T>A	ENST00000439649.3	-	6	1149	c.782A>T	c.(781-783)aAc>aTc	p.N261I	GFRA1_ENST00000544592.1_Missense_Mutation_p.N145I|GFRA1_ENST00000355422.6_Missense_Mutation_p.N266I|GFRA1_ENST00000369236.1_Missense_Mutation_p.N261I	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	266					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TGGCTGGCAGTTGGTAAAAAA	0.488000													12	39					0	0	0.500413	0	0
DLG1	1739	broad.mit.edu	37	3	196792249	196792249	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:196792249C>T	ENST00000346964.2	-	23	2559	c.2370G>A	c.(2368-2370)caG>caA	p.Q790Q	DLG1_ENST00000392382.2_Silent_p.Q735Q|DLG1_ENST00000314062.3_Silent_p.Q717Q|DLG1_ENST00000357674.4_Silent_p.Q757Q|DLG1_ENST00000448528.2_Silent_p.Q768Q|DLG1_ENST00000422288.1_Silent_p.Q717Q|DLG1_ENST00000443183.1_Silent_p.Q664Q|DLG1_ENST00000452595.1_Silent_p.Q652Q|DLG1_ENST00000450955.1_Silent_p.Q757Q|DLG1_ENST00000419354.1_Silent_p.Q768Q	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	768	Guanylate kinase-like.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	p.Q790Q(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		CTTTTTCCATCTGCTCTCTTG	0.353000													9	94					0	0	0.307466	0	0
TRPC4	7223	broad.mit.edu	37	13	38320577	38320577	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr13:38320577G>C	ENST00000379705.3	-	3	1251	c.394C>G	c.(394-396)Ctt>Gtt	p.L132V	TRPC4_ENST00000447043.1_Missense_Mutation_p.L132V|TRPC4_ENST00000426868.2_Missense_Mutation_p.L132V|TRPC4_ENST00000379673.2_Missense_Mutation_p.L132V|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000379681.3_Missense_Mutation_p.L132V|TRPC4_ENST00000358477.2_Missense_Mutation_p.L132V|TRPC4_ENST00000355779.2_Missense_Mutation_p.L132V|TRPC4_ENST00000338947.5_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	132	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TGCTTATCAAGGAGTATAGGA	0.348000													30	110					0	0	0.796494	0	0
TRHDE	29953	broad.mit.edu	37	12	73014913	73014913	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:73014913C>G	ENST00000261180.4	+	14	2456	c.2360C>G	c.(2359-2361)aCa>aGa	p.T787R		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	787					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						CAAGTTGCAACAACATATATC	0.303000													12	73					0	0	0.457914	0	0
GFPT1	2673	broad.mit.edu	37	2	69577254	69577254	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:69577254C>A	ENST00000357308.4	-	10	979	c.801G>T	c.(799-801)ccG>ccT	p.P267P	GFPT1_ENST00000361060.4_Silent_p.P249P	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	267	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						TTTCTTCCACCGGGAAAAGGC	0.408000													3	42					0.184627	0.187367	0.184627	1	0
PRDM7	11105	broad.mit.edu	37	16	90126823	90126823	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:90126823T>G	ENST00000449207.2	-	9	1178	c.1159A>C	c.(1159-1161)Atg>Ctg	p.M387L	PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	387						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCATCCCCATACCAGACCAG	0.522000													4	100					0	0	0.184627	0	0
ADAM29	11086	broad.mit.edu	37	4	175897428	175897428	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:175897428G>T	ENST00000359240.3	+	5	1422	c.752G>T	c.(751-753)tGg>tTg	p.W251L	ADAM29_ENST00000445694.1_Missense_Mutation_p.W251L|ADAM29_ENST00000514159.1_Missense_Mutation_p.W251L|ADAM29_ENST00000404450.4_Missense_Mutation_p.W251L	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	251	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TTGGAGATCTGGACCAATAAA	0.393000													14	117					2.48551e-13	4.07694e-13	0.520397	1	0
PREX2	80243	broad.mit.edu	37	8	69050651	69050651	+	Splice_Site	SNP	C	C	A	rs74977392		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:69050651C>A	ENST00000288368.4	+	33	4263	c.3984_splice	c.e33-1	p.T1329_splice		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1329					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TCTTTGTAGACAGATGAACAA	0.323000													5	56					2.0095e-06	2.53909e-06	0.248553	1	0
KLHDC8A	55220	broad.mit.edu	37	1	205308841	205308841	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:205308841G>T	ENST00000367156.3	-	6	1288	c.472C>A	c.(472-474)Cta>Ata	p.L158I	KLHDC8A_ENST00000460687.1_Missense_Mutation_p.L24I|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.L158I|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.L45I|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.L158I	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	158										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ATGGGTGCTAGGGACACCCAC	0.557000													17	75					2.70639e-06	3.40289e-06	0.624587	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37508451	37508451	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:37508451G>T	ENST00000374660.1	+	40	4099	c.4000G>T	c.(4000-4002)Gga>Tga	p.G1334*	ANKRD30A_ENST00000602533.1_Nonsense_Mutation_p.G1215*|ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.G1215*			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1271						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CAATTATGCAGGAGATGCTCT	0.368000													6	27					1.06961e-07	1.4497e-07	0.278610	1	0
DNMT3A	1788	broad.mit.edu	37	2	25469071	25469071	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:25469071C>A	ENST00000264709.3	-	11	1724	c.1387G>T	c.(1387-1389)Gag>Tag	p.E463*	DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.E240*|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.E463*|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.E274*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	463					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGGCTTCTCCGCTGTGCTC	0.582000			"""Mis, F, N, S"""		AML								41	111					4.0306e-16	7.05699e-16	0.870114	1	0
OR2AK2	391191	broad.mit.edu	37	1	248128656	248128656	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:248128656C>A	ENST00000366480.3	+	1	122	c.23C>A	c.(22-24)tCc>tAc	p.S8Y	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			gatgtcatctCCTTTGATATT	0.333000													13	41					0.00185496	0.00204205	0.435327	1	0
FGA	2243	broad.mit.edu	37	4	155505869	155505869	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:155505869C>A	ENST00000302053.3	-	6	2086	c.2008G>T	c.(2008-2010)Gga>Tga	p.G670*		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	670	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGCCATCCTCCCAAACTGGTC	0.453000													12	55					2.27111e-07	3.01639e-07	0.411799	1	0
SIM1	6492	broad.mit.edu	37	6	100841656	100841656	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:100841656G>C	ENST00000369208.3	-	11	2059	c.1277C>G	c.(1276-1278)cCt>cGt	p.P426R	SIM1_ENST00000262901.4_Missense_Mutation_p.P426R			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	426	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CTGGGAGCCAGGCCTATCGGC	0.597000													12	83					0	0	0.539581	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059246	152059246	+	Silent	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:152059246A>T	ENST00000368806.1	-	3	976	c.912T>A	c.(910-912)gcT>gcA	p.A304A		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	304							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTGGCAGGTCAGCATGCTGTG	0.443000													55	187					0	0	0.870114	0	0
LCE1C	353133	broad.mit.edu	37	1	152777833	152777833	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:152777833G>T	ENST00000368768.1	-	2	172	c.122C>A	c.(121-123)tCt>tAt	p.S41Y	LCE1C_ENST00000607093.1_Missense_Mutation_p.S41Y	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	41					keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAGCAGGAAGAGACAGGAGG	0.662000													13	169					1.15919e-05	1.41334e-05	0.575678	1	0
HIVEP3	59269	broad.mit.edu	37	1	42048156	42048156	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:42048156C>A	ENST00000372584.1	-	3	3327	c.2313G>T	c.(2311-2313)acG>acT	p.T771T	HIVEP3_ENST00000247584.5_Silent_p.T771T|HIVEP3_ENST00000429157.2_Silent_p.T771T|HIVEP3_ENST00000372583.1_Silent_p.T771T	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	771	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				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)				GCTGGAAGCCCGTGGGTCCCT	0.577000													9	77					0.00010058	0.00011667	0.411799	1	0
AKAP8	10270	broad.mit.edu	37	19	15483727	15483727	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:15483727C>A	ENST00000269701.2	-	5	856	c.796G>T	c.(796-798)Ggc>Tgc	p.G266C		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	266					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CTGTCATAGCCGCCCGCCCCC	0.701000													5	21					5.68852e-11	8.68516e-11	0.307466	1	0
ADAMTS15	170689	broad.mit.edu	37	11	130319275	130319275	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:130319275T>G	ENST00000299164.2	+	1	407	c.407T>G	c.(406-408)aTt>aGt	p.I136S		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	136					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GAGTATGTCATTAGCCCGCTG	0.697000													5	31					0	0	0.217242	0	0
MFHAS1	9258	broad.mit.edu	37	8	8749296	8749296	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:8749296G>A	ENST00000276282.6	-	1	1859	c.1273C>T	c.(1273-1275)Ctg>Ttg	p.L425L		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	425	Roc.									endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CAGTGGCGCAGCAAAGTCTTT	0.627000													25	125					0	0	0.769981	0	0
SRCAP	10847	broad.mit.edu	37	16	30724003	30724003	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:30724003A>T	ENST00000262518.4	+	14	2382	c.1997A>T	c.(1996-1998)aAc>aTc	p.N666I	SRCAP_ENST00000344771.4_Missense_Mutation_p.N666I|SRCAP_ENST00000395059.2_Missense_Mutation_p.N666I	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	666	Helicase ATP-binding.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTAACAGGTAACTGGGGTCCC	0.448000													20	82					0	0	0.667858	0	0
CLEC10A	10462	broad.mit.edu	37	17	6978402	6978402	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:6978402G>T	ENST00000254868.4	-	9	1250	c.922C>A	c.(922-924)Ctg>Atg	p.L308M	CLEC10A_ENST00000571664.1_Missense_Mutation_p.L284M|CLEC10A_ENST00000416562.2_Missense_Mutation_p.L281M|CLEC10A_ENST00000576617.1_3'UTR	NM_182906.2	NP_878910.1	Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	308					endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GTCTGACCCAGGCCAGCCTCG	0.647000													27	86					1.61788e-16	2.86197e-16	0.760397	1	0
SNTG1	54212	broad.mit.edu	37	8	51664666	51664666	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:51664666G>A	ENST00000522124.1	+	18	2051	c.1390G>A	c.(1390-1392)Gca>Aca	p.A464T	SNTG1_ENST00000517473.1_Intron|SNTG1_ENST00000276467.5_Intron|SNTG1_ENST00000518864.1_Missense_Mutation_p.A464T	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	464					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ACAGATTGAAGCAAAGGTAAA	0.363000													10	50					0	0	0.411799	0	0
PLCB1	23236	broad.mit.edu	37	20	8696983	8696983	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:8696983G>T	ENST00000378641.3	+	13	1798	c.1323G>T	c.(1321-1323)ctG>ctT	p.L441L	PLCB1_ENST00000338037.6_Silent_p.L441L|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Silent_p.L441L	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	441	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGGAGCCCCTGGAAAAATATC	0.438000													3	42					0.115264	0.118498	0.115264	1	0
DKKL1	27120	broad.mit.edu	37	19	49868844	49868844	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:49868844G>T	ENST00000221498.2	+	3	667	c.262G>T	c.(262-264)Gag>Tag	p.E88*	DKKL1_ENST00000594268.1_Intron	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	88					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		CTACCACAAAGAGGAGAACCA	0.612000													23	69					1.77063e-15	3.05579e-15	0.693898	1	0
HOXC13	3229	broad.mit.edu	37	12	54338815	54338815	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:54338815C>A	ENST00000243056.3	+	2	924	c.768C>A	c.(766-768)agC>agA	p.S256R		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	256						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						AGGTGAGCAGCTACCGGCGCG	0.597000			T	NUP98	AML								56	205					9.40535e-28	1.89585e-27	0.870114	1	0
DMRTA1	63951	broad.mit.edu	37	9	22451454	22451454	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:22451454A>T	ENST00000325870.1	+	2	1284	c.1059A>T	c.(1057-1059)aaA>aaT	p.K353N		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	353					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		GGTTCTGCAAAGGGGATGTGG	0.463000													4	36					0	0	0.184627	0	0
HIST1H2BF	8343	broad.mit.edu	37	6	26200000	26200000	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:26200000G>T	ENST00000359985.1	+	1	253	c.214G>T	c.(214-216)Gag>Tag	p.E72*		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	72					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				CGATATCTTCGAGCGCATCGC	0.602000													46	219					1.83081e-24	3.59504e-24	0.870114	1	0
FADS2	9415	broad.mit.edu	37	11	61630795	61630795	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:61630795A>T	ENST00000278840.4	+	9	1652	c.1022A>T	c.(1021-1023)aAt>aTt	p.N341I	FADS2_ENST00000257261.6_Missense_Mutation_p.N319I|FADS2_ENST00000522056.1_Missense_Mutation_p.N310I|FADS2_ENST00000521849.1_Missense_Mutation_p.N341I	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	341					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	ACACAGATGAATCACATCGTC	0.597000													12	106					0	0	0.457914	0	0
C1orf173	127254	broad.mit.edu	37	1	75038989	75038989	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:75038989C>T	ENST00000326665.5	-	14	2623	c.2405G>A	c.(2404-2406)gGa>gAa	p.G802E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	802	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATGAACAGCTCCTGCTTCTCC	0.532000													14	124					0	0	0.500413	0	0
UBAC1	10422	broad.mit.edu	37	9	138830161	138830161	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:138830161C>A	ENST00000371756.3	-	9	1226	c.1009G>T	c.(1009-1011)Gac>Tac	p.D337Y		NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	337						Golgi apparatus|plasma membrane	protein binding			NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		ATGCCCTTGTCCAGCTCCTCC	0.597000													14	43					6.31663e-08	8.61244e-08	0.479597	1	0
AOC3	8639	broad.mit.edu	37	17	41003389	41003389	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:41003389T>C	ENST00000308423.2	+	1	189	c.29T>C	c.(28-30)cTc>cCc	p.L10P		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	10					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CTCGTGCTCCTCATTCTGGCC	0.557000													6	271					0	0	0.278610	0	0
COL3A1	1281	broad.mit.edu	37	2	189856910	189856910	+	Splice_Site	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:189856910G>T	ENST00000304636.3	+	14	1122	c.951_splice	c.e14-1	p.G318_splice	COL3A1_ENST00000317840.5_Splice_Site_p.G318_splice	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	318	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)	CTCTTTTTAGGGTGCTCGGGG	0.383000													12	127					1.52009e-12	2.45222e-12	0.479597	1	0
TTC13	79573	broad.mit.edu	37	1	231079566	231079566	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:231079566C>G	ENST00000366661.4	-	6	665	c.658G>C	c.(658-660)Gag>Cag	p.E220Q	TTC13_ENST00000414259.1_Intron|TTC13_ENST00000366662.4_Intron	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	220							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		GCTCGCTGCTCAAATACCTCT	0.378000													27	191					0	0	0.819951	0	0
DNAH2	146754	broad.mit.edu	37	17	7640409	7640409	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:7640409A>T	ENST00000572933.1	+	8	2463	c.1003A>T	c.(1003-1005)Aac>Tac	p.N335Y	DNAH2_ENST00000570791.1_Missense_Mutation_p.N335Y|DNAH2_ENST00000082259.3_Missense_Mutation_p.N335Y|DNAH2_ENST00000389173.2_Missense_Mutation_p.N335Y			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	335	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGCACAGTCAAACCTGACCTT	0.423000													16	51					0	0	0.592651	0	0
BICD1	636	broad.mit.edu	37	12	32491886	32491886	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:32491886G>T	ENST00000281474.5	+	8	2840	c.2737G>T	c.(2737-2739)Gaa>Taa	p.E913*	BICD1_ENST00000548411.1_Intron	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	913					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GCTCAGCAAGGAAAAAAGGTT	0.478000													19	47					5.45024e-15	9.27354e-15	0.654019	1	0
GRIN2A	2903	broad.mit.edu	37	16	9923462	9923462	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:9923462A>G	ENST00000396573.2	-	10	2134	c.1825T>C	c.(1825-1827)Tgg>Cgg	p.W609R	GRIN2A_ENST00000535259.1_Missense_Mutation_p.W452R|GRIN2A_ENST00000562109.1_Missense_Mutation_p.W609R|GRIN2A_ENST00000404927.2_Missense_Mutation_p.W609R|GRIN2A_ENST00000330684.3_Missense_Mutation_p.W609R|GRIN2A_ENST00000396575.2_Missense_Mutation_p.W609R	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	609					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACCAGGCCCCAAAGAAGCCAT	0.448000													7	39					0	0	0.248553	0	0
BZRAP1	9256	broad.mit.edu	37	17	56387878	56387878	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:56387878C>T	ENST00000355701.3	-	20	4564	c.3694G>A	c.(3694-3696)Gct>Act	p.A1232T	BZRAP1_ENST00000268893.6_Missense_Mutation_p.A1172T|BZRAP1_ENST00000343736.4_Missense_Mutation_p.A1232T	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1232						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTACCTCAGCCCTGGGCCTC	0.622000													8	62					0	0	0.335167	0	0
NGLY1	55768	broad.mit.edu	37	3	25805755	25805755	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:25805755C>A	ENST00000428257.1	-	3	401	c.294G>T	c.(292-294)ctG>ctT	p.L98L	NGLY1_ENST00000422724.2_Silent_p.L21L|NGLY1_ENST00000396649.3_Silent_p.L98L|NGLY1_ENST00000417874.2_Silent_p.L56L|NGLY1_ENST00000280700.5_Silent_p.L98L	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	98					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						GAATTTTTTGCAGCTGCTCCA	0.393000													41	156					1.00776e-21	1.91474e-21	0.870114	1	0
SH3BP2	6452	broad.mit.edu	37	4	2829385	2829385	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:2829385G>T	ENST00000356331.5	+	7	831	c.570G>T	c.(568-570)gaG>gaT	p.E190D	SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000452765.2_Missense_Mutation_p.E190D|SH3BP2_ENST00000511747.1_Missense_Mutation_p.E190D|SH3BP2_ENST00000503393.2_Missense_Mutation_p.E247D|SH3BP2_ENST00000435136.2_Missense_Mutation_p.E190D|SH3BP2_ENST00000442312.2_Missense_Mutation_p.E218D	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	190					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		ACTCCCCGGAGCCCGGAAGGC	0.687000									Cherubism				4	16					0.184627	0.187367	0.184627	1	0
KMT2C	58508	broad.mit.edu	37	7	151891314	151891314	+	Splice_Site	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:151891314C>A	ENST00000355193.2	-	30	4758	c.4540_splice	c.e30+1	p.E1514_splice	KMT2C_ENST00000262189.6_Splice_Site_p.E1514_splice					lysine (K)-specific methyltransferase 2C																		ACACATTTACCTGGAATTTTA	0.269000													3	15					0.004672	0.00502988	0.115264	1	0
NDST4	64579	broad.mit.edu	37	4	115773881	115773881	+	Splice_Site	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:115773881C>T	ENST00000264363.2	-	8	2494	c.1816_splice	c.e8+1	p.G606_splice		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	606	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)		CTATTTTTACCTGTTTTTTGT	0.303000													3	17					0	0	0.115264	0	0
NLRP13	126204	broad.mit.edu	37	19	56443534	56443534	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:56443534G>T	ENST00000588751.1	-	1	168	c.144C>A	c.(142-144)ccC>ccA	p.P48P	NLRP13_ENST00000342929.3_Silent_p.P48P			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	48	DAPIN.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGTGCCCCTGGGGGGCCGACC	0.547000													10	89					2.80697e-09	4.01948e-09	0.387290	1	0
FLYWCH2	114984	broad.mit.edu	37	16	2946546	2946546	+	Silent	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:2946546C>G	ENST00000396958.3	+	3	476	c.96C>G	c.(94-96)gcC>gcG	p.A32A	FLYWCH2_ENST00000572006.1_Silent_p.A32A|FLYWCH2_ENST00000293981.6_Silent_p.A32A	NM_001142500.1|NM_138439.2	NP_001135972.1|NP_612448.1	Q96CP2	FWCH2_HUMAN	FLYWCH family member 2	32										central_nervous_system(1)|lung(3)|ovary(1)|skin(1)	6						TCCCGGCAGCCCCCAGGAAGC	0.647000													31	112					0	0	0.760397	0	0
MS4A14	84689	broad.mit.edu	37	11	60184251	60184251	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:60184251C>A	ENST00000300187.6	+	5	2087	c.1810C>A	c.(1810-1812)Cag>Aag	p.Q604K	MS4A14_ENST00000531783.1_Missense_Mutation_p.Q637K|MS4A14_ENST00000395005.2_Missense_Mutation_p.Q587K|MS4A14_ENST00000531787.1_Missense_Mutation_p.Q492K	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	604	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AACCCAGGATCAGCAAACTGA	0.473000													5	33					0.000602214	0.000674165	0.184627	1	0
EFS	10278	broad.mit.edu	37	14	23829393	23829393	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:23829393C>A	ENST00000216733.3	-	3	1002	c.395G>T	c.(394-396)aGa>aTa	p.R132I	EFS_ENST00000429593.2_Missense_Mutation_p.R39I|EFS_ENST00000351354.3_Missense_Mutation_p.R39I	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	132	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CCCACTAGCTCTGGGGATTTT	0.617000													28	97					1.58521e-26	3.16424e-26	0.812448	1	0
ZNF648	127665	broad.mit.edu	37	1	182026832	182026832	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:182026832C>A	ENST00000339948.3	-	2	521	c.314G>T	c.(313-315)aGa>aTa	p.R105I		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						TGTCACATCTCTGCTCCAACT	0.542000													23	74					6.38683e-12	1.0199e-11	0.729181	1	0
NUP210	23225	broad.mit.edu	37	3	13381436	13381436	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:13381436C>A	ENST00000254508.5	-	25	3471	c.3389G>T	c.(3388-3390)gGc>gTc	p.G1130V	NUP210_ENST00000485755.1_5'UTR	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1130					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GATGGCGAGGCCCTGTACCAG	0.617000													57	162					5.00936e-31	1.02281e-30	0.870114	1	0
HEG1	57493	broad.mit.edu	37	3	124739876	124739876	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:124739876C>A	ENST00000311127.4	-	4	1079	c.1012G>T	c.(1012-1014)Ggt>Tgt	p.G338C		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	338						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CTCGGGCCACCATCAGTGAAC	0.522000													3	19					6.4e-05	7.50611e-05	0.115264	1	0
CIDEB	27141	broad.mit.edu	37	14	24774945	24774945	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:24774945A>G	ENST00000336557.5	-	8	1856	c.554T>C	c.(553-555)cTg>cCg	p.L185P	NOP9_ENST00000267425.3_3'UTR|CIDEB_ENST00000556756.1_5'UTR|CIDEB_ENST00000258807.5_Missense_Mutation_p.L185P|CIDEB_ENST00000554411.1_Missense_Mutation_p.L185P			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	185					apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis	cytosol				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		GCCTTGCAGCAGTGTGGAGGT	0.562000													14	85					0	0	0.520397	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213436106	213436106	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:213436106A>G	ENST00000366960.3	+	14	3187	c.3037A>G	c.(3037-3039)Act>Gct	p.T1013A	RPS6KC1_ENST00000543354.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.T1001A|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.T801A	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	1013	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TACTCACACTACTTTGAACAT	0.393000													41	181					0	0	0.870114	0	0
ANK1	286	broad.mit.edu	37	8	41655052	41655052	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:41655052G>T	ENST00000396942.1	-	1	88	c.5C>A	c.(4-6)cCc>cAc	p.P2H	ANK1_ENST00000289734.7_Missense_Mutation_p.P2H|ANK1_ENST00000396945.1_Missense_Mutation_p.P2H|ANK1_ENST00000521407.1_5'UTR|ANK1_ENST00000265709.8_Intron|ANK1_ENST00000379758.2_Missense_Mutation_p.P2H|ANK1_ENST00000347528.4_Missense_Mutation_p.P2H|ANK1_ENST00000352337.4_Missense_Mutation_p.P2H			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	2	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CACAGAATAGGGCATGCCGGT	0.701000													11	47					2.61681e-11	4.05567e-11	0.457914	1	0
KCNH6	81033	broad.mit.edu	37	17	61611522	61611522	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:61611522C>G	ENST00000583023.1	+	5	962	c.951C>G	c.(949-951)atC>atG	p.I317M	KCNH6_ENST00000580652.1_Missense_Mutation_p.I317M|KCNH6_ENST00000314672.5_Missense_Mutation_p.I317M|KCNH6_ENST00000581784.1_Missense_Mutation_p.I317M|KCNH6_ENST00000456941.2_Missense_Mutation_p.I317M	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	317					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)	ACATCGTCATCAACTTCCGCA	0.567000													5	287					0	0	0.248553	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112998657	112998657	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:112998657G>A	ENST00000271277.6	+	6	768	c.543G>A	c.(541-543)atG>atA	p.M181I		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	181						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTCATCCATGCTAGTGCTTG	0.498000													18	77					0	0	0.693898	0	0
WDR62	284403	broad.mit.edu	37	19	36577668	36577668	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:36577668G>T	ENST00000401500.2	+	13	1757	c.1722G>T	c.(1720-1722)caG>caT	p.Q574H	WDR62_ENST00000270301.7_Missense_Mutation_p.Q574H	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	574					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACCTGGAGCAGACGCTGGATG	0.577000													7	35					0.00448238	0.00485631	0.307466	1	0
NFATC3	4775	broad.mit.edu	37	16	68200749	68200749	+	Silent	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:68200749T>A	ENST00000349223.5	+	5	1829	c.1605T>A	c.(1603-1605)atT>atA	p.I535I	NFATC3_ENST00000575270.1_Silent_p.I535I|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Silent_p.I535I|NFATC3_ENST00000329524.4_Silent_p.I535I	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	535	RHD.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TCTTTAGTATTGATTGTGCAG	0.284000													4	13					0	0	0.150653	0	0
SDK2	54549	broad.mit.edu	37	17	71354280	71354280	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:71354280C>A	ENST00000392650.3	-	40	5531	c.5531G>T	c.(5530-5532)tGg>tTg	p.W1844L	SDK2_ENST00000388726.3_Missense_Mutation_p.W1825L|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1844	Fibronectin type-III 13.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCCGCTGGACCAGTGAATGGC	0.657000													53	206					1.80625e-27	3.6302e-27	0.870114	1	0
TRBC2	28638	broad.mit.edu	37	7	142499018	142499018	+	RNA	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:142499018C>A	ENST00000466254.1	+	0	294																											CTGTCAAGTCCAGTTCTACGG	0.627000													28	209					3.73808e-20	7.00506e-20	0.693898	1	0
ADAM8	101	broad.mit.edu	37	10	135083990	135083990	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:135083990C>A	ENST00000445355.3	-	16	1709	c.1659G>T	c.(1657-1659)caG>caT	p.Q553H	ADAM8_ENST00000485491.2_Missense_Mutation_p.Q514H|ADAM8_ENST00000415217.3_Missense_Mutation_p.Q553H	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN	ADAM metallopeptidase domain 8	514					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		CACCCTTGCACTGCAGAACGC	0.657000													22	116					1.75199e-13	2.88993e-13	0.717897	1	0
GRIK3	2899	broad.mit.edu	37	1	37307540	37307540	+	Splice_Site	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:37307540C>A	ENST00000373091.3	-	10	1343	c.1326_splice	c.e10-1	p.E443_splice	GRIK3_ENST00000373093.4_Splice_Site_p.E443_splice	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	443					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AAGGGCTCCTCCTGCAGAGAC	0.567000													12	106					7.03913e-09	9.94101e-09	0.411799	1	0
LPP	4026	broad.mit.edu	37	3	188584129	188584129	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:188584129G>T	ENST00000312675.4	+	9	1798	c.1552G>T	c.(1552-1554)Gct>Tct	p.A518S	LPP_ENST00000543006.1_Missense_Mutation_p.A518S	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	518	LIM zinc-binding 2.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CACTGTGGATGCTGGCGGGCT	0.562000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								19	51					3.8784e-16	6.79632e-16	0.608945	1	0
ELAVL4	1996	broad.mit.edu	37	1	50661329	50661329	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:50661329C>A	ENST00000371824.1	+	5	862	c.605C>A	c.(604-606)aCg>aAg	p.T202K	ELAVL4_ENST00000357083.4_Missense_Mutation_p.T219K|ELAVL4_ENST00000371827.1_Missense_Mutation_p.T202K|ELAVL4_ENST00000448907.2_Missense_Mutation_p.T205K|ELAVL4_ENST00000371819.1_Missense_Mutation_p.T207K|ELAVL4_ENST00000371821.1_Missense_Mutation_p.T207K|ELAVL4_ENST00000371823.4_Missense_Mutation_p.T202K			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	202	RRM 2.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						AGCGGTGCTACGGAACCGATT	0.582000													36	131					1.07121e-22	2.06202e-22	0.827153	1	0
REEP4	80346	broad.mit.edu	37	8	21996183	21996183	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:21996183C>A	ENST00000306306.3	-	7	1145	c.677G>T	c.(676-678)cGt>cTt	p.R226L	REEP4_ENST00000523293.1_Intron|REEP4_ENST00000334530.5_3'UTR	NM_025232.2	NP_079508.2	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	226						integral to membrane				kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		CTTGACCACACGCAGGCTCTG	0.662000													11	52					4.3838e-07	5.72966e-07	0.435327	1	0
IKZF1	10320	broad.mit.edu	37	7	50468225	50468225	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:50468225G>T	ENST00000331340.3	+	8	1615	c.1460G>T	c.(1459-1461)cGt>cTt	p.R487L	IKZF1_ENST00000349824.4_Missense_Mutation_p.R344L|IKZF1_ENST00000357364.4_Missense_Mutation_p.R400L|IKZF1_ENST00000343574.5_Missense_Mutation_p.R400L|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000346667.4_Missense_Mutation_p.R257L|IKZF1_ENST00000359197.5_Missense_Mutation_p.R445L|IKZF1_ENST00000438033.1_Missense_Mutation_p.R400L|IKZF1_ENST00000439701.1_Missense_Mutation_p.R445L	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	487					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CACGGCTTCCGTGATCCTTTT	0.577000			"""D,T"""	BCL6	"""ALL, DLBCL"""								12	62					2.35188e-11	3.66443e-11	0.539581	1	0
ASAH1	427	broad.mit.edu	37	8	17918902	17918902	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:17918902G>C	ENST00000262097.6	-	10	1080	c.769C>G	c.(769-771)Ctg>Gtg	p.L257V	ASAH1_ENST00000417108.2_Missense_Mutation_p.L167V|ASAH1_ENST00000314146.10_Missense_Mutation_p.L251V|ASAH1_ENST00000520781.1_Missense_Mutation_p.L232V|ASAH1_ENST00000381733.4_Missense_Mutation_p.L273V	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	257					ceramide metabolic process	lysosome	ceramidase activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		CTATTTTCCAGAACTGTTCTA	0.338000													12	75					0	0	0.479597	0	0
TRIM67	440730	broad.mit.edu	37	1	231351141	231351141	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:231351141G>T	ENST00000444294.3	+	10	3159	c.2301G>T	c.(2299-2301)ttG>ttT	p.L767F	TRIM67_ENST00000449018.3_Missense_Mutation_p.L707F|TRIM67_ENST00000366652.2_Intron|TRIM67_ENST00000366653.5_Missense_Mutation_p.L769F	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	769	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				ACACAGGATTGGAAGTGCCGA	0.612000													5	41					2.0095e-06	2.53909e-06	0.248553	1	0
PKLR	5313	broad.mit.edu	37	1	155264066	155264066	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:155264066C>G	ENST00000392414.3	-	7	1096	c.983G>C	c.(982-984)cGc>cCc	p.R328P	PKLR_ENST00000342741.4_Missense_Mutation_p.R359P	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	359					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CAAGTTGCAGCGCCCAATCAT	0.582000													12	63					0	0	0.500413	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217518	150217518	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:150217518C>A	ENST00000313543.4	+	2	613	c.456C>A	c.(454-456)ggC>ggA	p.G152G		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	152							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGATGTGGGCCTAAAAAGCA	0.507000													9	39					0.000673444	0.000751445	0.361761	1	0
GRM8	2918	broad.mit.edu	37	7	126079195	126079195	+	Missense_Mutation	SNP	C	C	A	rs10225567		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:126079195C>A	ENST00000339582.2	-	11	3513	c.2705G>T	c.(2704-2706)aGt>aTt	p.S902I	GRM8_ENST00000358373.3_3'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.S902I			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	902			S -> I (in dbSNP:rs10225567).		negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ATTGCTGTAACTGATATATGT	0.303000										HNSCC(24;0.065)			41	194					1.39843e-22	2.68687e-22	0.870114	1	0
CADPS	8618	broad.mit.edu	37	3	62739367	62739367	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:62739367T>A	ENST00000383710.4	-	3	986	c.637A>T	c.(637-639)Aag>Tag	p.K213*	CADPS_ENST00000357948.3_Nonsense_Mutation_p.K213*|CADPS_ENST00000490353.2_Nonsense_Mutation_p.K213*|CADPS_ENST00000283269.9_Nonsense_Mutation_p.K213*	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	213					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TCAATGTGCTTCTTGAAGACC	0.572000													6	37					0	0	0.248553	0	0
OR51A4	401666	broad.mit.edu	37	11	4967752	4967752	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:4967752G>A	ENST00000380373.2	-	1	604	c.579C>T	c.(577-579)gaC>gaT	p.D193D	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAATTCTGTTGTCAGAACAGG	0.408000													13	77					0	0	0.500413	0	0
NLRP4	147945	broad.mit.edu	37	19	56363455	56363455	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:56363455C>A	ENST00000301295.6	+	2	431	c.9C>A	c.(7-9)gcC>gcA	p.A3A	NLRP4_ENST00000346986.5_Silent_p.A3A	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	3	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGATGGCAGCCTCTTTCTTCT	0.403000													30	99					2.40579e-17	4.31906e-17	0.819951	1	0
DENND2A	27147	broad.mit.edu	37	7	140221666	140221666	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:140221666T>A	ENST00000275884.6	-	17	3317	c.2900A>T	c.(2899-2901)cAg>cTg	p.Q967L	DENND2A_ENST00000537639.1_Missense_Mutation_p.Q967L|DENND2A_ENST00000496613.1_Missense_Mutation_p.Q967L			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	967										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TTTGGCATCCTGCCGGCGCAG	0.587000													15	115					0	0	0.520397	0	0
WDR60	55112	broad.mit.edu	37	7	158715089	158715089	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:158715089A>C	ENST00000407559.3	+	16	2101	c.1943A>C	c.(1942-1944)cAc>cCc	p.H648P		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	648										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TCCTCCTTGCACACCTCCCGA	0.473000													8	100					0	0	0.335167	0	0
PAPSS2	9060	broad.mit.edu	37	10	89474571	89474571	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:89474571C>T	ENST00000361175.4	+	5	959	c.590C>T	c.(589-591)tCc>tTc	p.S197F	PAPSS2_ENST00000427144.2_Missense_Mutation_p.S201F|PAPSS2_ENST00000456849.1_Missense_Mutation_p.S197F	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	197					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		ACCAATTTGTCCACAGTGAGT	0.403000													32	128					0	0	0.840704	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5200278	5200278	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:5200278G>A	ENST00000274181.7	+	9	1485	c.1347G>A	c.(1345-1347)atG>atA	p.M449I	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.M449I	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	449	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.M449I(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AAGGGAACATGTGCAAAAAGT	0.453000													5	28					0	0	0.184627	0	0
SPP2	6694	broad.mit.edu	37	2	234975188	234975188	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:234975188G>T	ENST00000168148.3	+	5	544	c.456G>T	c.(454-456)ggG>ggT	p.G152G	SPP2_ENST00000373368.1_Silent_p.G152G	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	152					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		TGATTTTTGGGGACATGTTGG	0.318000													16	81					3.28513e-13	5.3671e-13	0.667858	1	0
FLNC	2318	broad.mit.edu	37	7	128490468	128490468	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:128490468C>A	ENST00000325888.8	+	32	5590	c.5329C>A	c.(5329-5331)Cca>Aca	p.P1777T	FLNC_ENST00000346177.6_Missense_Mutation_p.P1744T|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1777					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCCTGTGGAGCCAATGGAGTC	0.607000													30	378					2.24893e-16	3.97486e-16	0.847076	1	0
EDAR	10913	broad.mit.edu	37	2	109545728	109545728	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:109545728C>T	ENST00000409271.1	-	5	725	c.282G>A	c.(280-282)gaG>gaA	p.E94E	EDAR_ENST00000376651.1_Silent_p.E94E|EDAR_ENST00000258443.2_Silent_p.E94E			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	94					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GGAAGAAGCCCTCACAGTCTT	0.612000													9	42					0	0	0.335167	0	0
TTN	7273	broad.mit.edu	37	2	179596810	179596810	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:179596810C>A	ENST00000589042.1	-	57	17110	c.16886G>T	c.(16885-16887)aGc>aTc	p.S5629I	TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S5312I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S4385I|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5312	Ig-like 37.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTACAATGCTACTGCAGTG	0.463000													24	155					4.2108e-06	5.24943e-06	0.740014	1	0
CYP2C18	1562	broad.mit.edu	37	10	96495115	96495115	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:96495115G>A	ENST00000285979.6	+	9	1586	c.1387G>A	c.(1387-1389)Gac>Aac	p.D463N	CYP2C18_ENST00000339022.5_Missense_Mutation_p.D404N|CYP2C19_ENST00000464755.1_Intron	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)		ATCTCAGGTTGACCCAAAGGA	0.488000													13	143					0	0	0.457914	0	0
DCDC1	341019	broad.mit.edu	37	11	30900145	30900145	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:30900145G>C	ENST00000597505.1	-	36	5337	c.5338C>G	c.(5338-5340)Cat>Gat	p.H1780D				P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTGTGGAGATGTGCCAGAGAC	0.443000													9	70					0	0	0.411799	0	0
PLD1	5337	broad.mit.edu	37	3	171410226	171410226	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:171410226C>G	ENST00000356327.5	-	13	1304	c.1234G>C	c.(1234-1236)Gga>Cga	p.G412R	PLD1_ENST00000351298.4_Missense_Mutation_p.G412R|PLD1_ENST00000342215.6_Missense_Mutation_p.G412R|PLD1_ENST00000340989.4_Missense_Mutation_p.G412R	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	412					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ATCCTCACTCCTTGTTGCTGT	0.413000													14	96					0	0	0.479597	0	0
NFASC	23114	broad.mit.edu	37	1	204955161	204955161	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:204955161T>G	ENST00000367172.4	+	23	3038	c.2710T>G	c.(2710-2712)Tac>Gac	p.Y904D	NFASC_ENST00000404076.1_Missense_Mutation_p.Y883D|NFASC_ENST00000339876.6_Intron|NFASC_ENST00000360049.4_Missense_Mutation_p.Y900D|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000513543.1_Missense_Mutation_p.Y900D|NFASC_ENST00000539706.1_Missense_Mutation_p.Y900D|NFASC_ENST00000338515.6_Missense_Mutation_p.Y904D|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000338586.6_Missense_Mutation_p.Y904D|NFASC_ENST00000367171.4_Missense_Mutation_p.Y889D|NFASC_ENST00000404907.1_Missense_Mutation_p.Y900D|NFASC_ENST00000367170.4_Missense_Mutation_p.Y904D			O94856	NFASC_HUMAN	neurofascin	904	Fibronectin type-III 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTACAGTAACTACAAGCTGGA	0.592000													7	69					0	0	0.307466	0	0
SLC9C2	284525	broad.mit.edu	37	1	173502797	173502797	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:173502797G>T	ENST00000367714.3	-	17	2536	c.2114C>A	c.(2113-2115)aCa>aAa	p.T705K	SLC9C2_ENST00000536496.1_3'UTR|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	705	Ion transport-like (By similarity).				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										CATTATTACTGTAAGCTGTAT	0.313000													23	78					1.38267e-23	2.69187e-23	0.693898	1	0
PCDH8	5100	broad.mit.edu	37	13	53418796	53418796	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr13:53418796G>T	ENST00000377942.3	-	3	3315	c.3112C>A	c.(3112-3114)Cca>Aca	p.P1038T	PCDH8_ENST00000338862.4_Missense_Mutation_p.P941T	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	1038					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AGCCTCCCTGGACGGGGAGGG	0.587000													14	224					6.49762e-13	1.05567e-12	0.539581	1	0
ABCC3	8714	broad.mit.edu	37	17	48741078	48741078	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:48741078C>A	ENST00000285238.8	+	9	1115	c.1035C>A	c.(1033-1035)ccC>ccA	p.P345P	ABCC3_ENST00000427699.1_Silent_p.P345P	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	345	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCATGGCCCCCTCCTGGTGGG	0.582000													27	183					1.61788e-16	2.86197e-16	0.760397	1	0
NDC1	55706	broad.mit.edu	37	1	54238132	54238132	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:54238132C>A	ENST00000371429.3	-	17	2429	c.1831G>T	c.(1831-1833)Gct>Tct	p.A611S	NDC1_ENST00000540001.1_3'UTR|NDC1_ENST00000537333.1_Missense_Mutation_p.A276S|NDC1_ENST00000234725.8_Missense_Mutation_p.A496S	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin																		TTACTGGAAGCATGAGGAAGC	0.428000													11	64					4.3838e-07	5.72966e-07	0.435327	1	0
OR10AG1	282770	broad.mit.edu	37	11	55735918	55735918	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:55735918A>G	ENST00000312345.2	-	1	72	c.22T>C	c.(22-24)Ttt>Ctt	p.F8L		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					ATATCAGAAAACCCCAAAAGA	0.308000													3	46					0	0	0.184627	0	0
LGI3	203190	broad.mit.edu	37	8	22005823	22005823	+	Silent	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:22005823T>C	ENST00000306317.2	-	8	1786	c.1497A>G	c.(1495-1497)cgA>cgG	p.R499R	LGI3_ENST00000424267.2_Silent_p.R475R	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	499					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CAAACTTCTGTCGTCCCTCAT	0.632000													5	33					0	0	0.217242	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686109	125686109	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:125686109C>A	ENST00000371126.1	-	1	725	c.483G>T	c.(481-483)aaG>aaT	p.K161N		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	161										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CCAGAAGCGTCTTGGAGGGAT	0.667000													5	60					0.000602214	0.000674165	0.184627	1	0
FAT4	79633	broad.mit.edu	37	4	126411190	126411190	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:126411190G>C	ENST00000394329.3	+	17	13226	c.13213G>C	c.(13213-13215)Gcc>Ccc	p.A4405P	FAT4_ENST00000335110.5_Missense_Mutation_p.A2646P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4405					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						GAACATTTGTGCCAGCAACCC	0.552000													86	359					0	0	0.870114	0	0
SNX14	57231	broad.mit.edu	37	6	86251735	86251735	+	Silent	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:86251735T>C	ENST00000314673.3	-	15	1592	c.1416A>G	c.(1414-1416)gcA>gcG	p.A472A	SNX14_ENST00000505648.1_Silent_p.A420A|SNX14_ENST00000369627.2_Silent_p.A472A|SNX14_ENST00000346348.3_Silent_p.A428A|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000513865.1_Intron	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	472					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TTGGTGATTCTGCACCTCTTA	0.284000													10	38					0	0	0.457914	0	0
GRID2	2895	broad.mit.edu	37	4	94690475	94690475	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:94690475C>A	ENST00000282020.4	+	15	2733	c.2475C>A	c.(2473-2475)gcC>gcA	p.A825A	GRID2_ENST00000510992.1_Silent_p.A730A	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	825					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AAGGAGGCGCCCTGGACATAA	0.517000													8	62					3.86212e-05	4.5625e-05	0.361761	1	0
NAP1L4	4676	broad.mit.edu	37	11	2993337	2993337	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:2993337C>A	ENST00000380542.4	-	5	450	c.310G>T	c.(310-312)Gac>Tac	p.D104Y	NAP1L4_ENST00000526115.1_Missense_Mutation_p.D104Y	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	104					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		CCTACCTTGTCAAAGAGAGGC	0.403000													11	57					3.07112e-06	3.8403e-06	0.387290	1	0
KCND3	3752	broad.mit.edu	37	1	112525064	112525064	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:112525064G>T	ENST00000369697.1	-	1	354	c.285C>A	c.(283-285)ctC>ctA	p.L95L	KCND3_ENST00000315987.2_Silent_p.L95L|KCND3_ENST00000302127.4_Silent_p.L95L			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	95						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GGTAGAAGTTGAGCACGCAGC	0.612000													20	117					1.10513e-12	1.78702e-12	0.624587	1	0
ABCB1	5243	broad.mit.edu	37	7	87133572	87133572	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:87133572G>T	ENST00000265724.3	-	29	4247	c.3830C>A	c.(3829-3831)aCa>aAa	p.T1277K	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.T1213K	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1277					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CTGGCGCTTTGTTCCAGCCTG	0.398000													23	94					1.68575e-08	2.35478e-08	0.717897	1	0
XYLT1	64131	broad.mit.edu	37	16	17232211	17232211	+	Splice_Site	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:17232211C>T	ENST00000261381.6	-	8	1849		c.e8+1		CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I						glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAAAGTCTCACCTGGAAGCGG	0.552000													9	33					0	0	0.435327	0	0
F5	2153	broad.mit.edu	37	1	169510440	169510440	+	Silent	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:169510440T>C	ENST00000367796.3	-	13	4104	c.3903A>G	c.(3901-3903)ccA>ccG	p.P1301P	F5_ENST00000367797.3_Silent_p.P1296P			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1296	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GGCTGAGTTCTGGAGAGAGGT	0.527000													74	409					0	0	0.870114	0	0
NELFE	7936	broad.mit.edu	37	6	31922387	31922387	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:31922387T>G	ENST00000375429.3	-	7	913	c.687A>C	c.(685-687)gaA>gaC	p.E229D	NELFE_ENST00000444811.2_Missense_Mutation_p.E199D|NELFE_ENST00000375425.5_Missense_Mutation_p.E236D	NM_002904.5	NP_002895.3			negative elongation factor complex member E																		ccctgtcccgttcccggtctc	0.607000													3	14					0	0	0.115264	0	0
AKAP8	10270	broad.mit.edu	37	19	15483726	15483726	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:15483726C>A	ENST00000269701.2	-	5	857	c.797G>T	c.(796-798)gGc>gTc	p.G266V		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	266					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						GCTGTCATAGCCGCCCGCCCC	0.706000													5	22					5.68852e-11	8.68516e-11	0.307466	1	0
ATP10A	57194	broad.mit.edu	37	15	25959153	25959153	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:25959153C>A	ENST00000356865.6	-	10	2123	c.2012G>T	c.(2011-2013)aGc>aTc	p.S671I		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	671					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CGCCTGGCTGCTGTAGCCGTT	0.692000													10	36					0.000673444	0.000751445	0.361761	1	0
INPP1	3628	broad.mit.edu	37	2	191235815	191235815	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:191235815G>T	ENST00000392329.2	+	7	1587	c.887G>T	c.(886-888)tGt>tTt	p.C296F	INPP1_ENST00000322522.4_Missense_Mutation_p.C296F|INPP1_ENST00000541441.1_Missense_Mutation_p.C296F	NM_001128928.1	NP_001122400.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	296					signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Lithium(DB01356)	AAGAGCCTATGTGTTGTCCAA	0.468000													12	68					7.93312e-07	1.02125e-06	0.457914	1	0
OR52N4	390072	broad.mit.edu	37	11	5776765	5776765	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:5776765C>T	ENST00000317254.3	+	1	843	c.795C>T	c.(793-795)cgC>cgT	p.R265R	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TTTCCCACCGCTTTGGGGAAC	0.468000													35	129					0	0	0.834066	0	0
GPN1	11321	broad.mit.edu	37	2	27851908	27851908	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:27851908G>T	ENST00000264718.3	+	1	46	c.25G>T	c.(25-27)Ggt>Tgt	p.G9C	ZNF512_ENST00000556601.1_Intron|GPN1_ENST00000407583.3_Intron|GPN1_ENST00000424214.1_Intron|GPN1_ENST00000515877.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000458167.2_Intron|GPN1_ENST00000503738.1_Intron	NM_007266.3	NP_009197.2	Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1	0						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|large_intestine(1)|lung(12)	14						TGGTCGGGTGGGTGGGGCCAG	0.632000													8	59					2.80697e-09	4.01948e-09	0.387290	1	0
MS4A3	932	broad.mit.edu	37	11	59834572	59834572	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:59834572G>T	ENST00000278865.3	+	5	573	c.500G>T	c.(499-501)gGc>gTc	p.G167V	MS4A3_ENST00000534744.1_Missense_Mutation_p.G121V|MS4A3_ENST00000358152.2_Missense_Mutation_p.G121V|MS4A3_ENST00000395032.2_Missense_Mutation_p.G44V	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	167						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				AATTACATGGGCTCCATATCA	0.348000													5	23					0.000602214	0.000674165	0.184627	1	0
KCNH5	27133	broad.mit.edu	37	14	63416974	63416974	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:63416974C>A	ENST00000322893.7	-	7	1514	c.1246G>T	c.(1246-1248)Gat>Tat	p.D416Y	KCNH5_ENST00000420622.2_Missense_Mutation_p.D416Y|KCNH5_ENST00000394964.2_Missense_Mutation_p.D358Y|KCNH5_ENST00000394968.1_Missense_Mutation_p.D358Y	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	416					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TACAATGAATCCTTGCTGGGT	0.463000													19	89					1.1804e-14	1.99356e-14	0.667858	1	0
F5	2153	broad.mit.edu	37	1	169510658	169510658	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:169510658G>C	ENST00000367796.3	-	13	3886	c.3685C>G	c.(3685-3687)Cca>Gca	p.P1229A	F5_ENST00000367797.3_Missense_Mutation_p.P1224A			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1224	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CCGAGGGCTGGGGAAAGGTTT	0.532000													45	342					0	0	0.870114	0	0
GRSF1	2926	broad.mit.edu	37	4	71702013	71702013	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:71702013G>C	ENST00000254799.6	-	2	493	c.376C>G	c.(376-378)Ctg>Gtg	p.L126V	GRSF1_ENST00000545193.1_Missense_Mutation_p.L8V|GRSF1_ENST00000508091.1_5'UTR|GRSF1_ENST00000439371.1_5'UTR|GRSF1_ENST00000502323.1_5'UTR	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	126	RRM 1.				mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			AGGTCTTCCAGGTAAGTAGTT	0.398000													8	94					0	0	0.411799	0	0
KIAA1109	84162	broad.mit.edu	37	4	123161381	123161381	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:123161381G>T	ENST00000264501.4	+	29	4917	c.4544G>T	c.(4543-4545)tGg>tTg	p.W1515L	KIAA1109_ENST00000388738.3_Missense_Mutation_p.W1515L|KIAA1109_ENST00000455637.1_Missense_Mutation_p.W1515L			Q2LD37	K1109_HUMAN	KIAA1109	1515					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTAATTAATTGGTCAGTTAAG	0.418000													19	121					3.10358e-05	3.73084e-05	0.624587	1	0
MFSD2B	388931	broad.mit.edu	37	2	24239075	24239075	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:24239075G>T	ENST00000338315.4	+	3	272	c.272G>T	c.(271-273)gGg>gTg	p.G91V	MFSD2B_ENST00000406420.3_Missense_Mutation_p.G91V			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	91					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						AAAGTGTCTGGGGCGGCTGCT	0.597000													5	57					7.48243e-07	9.66873e-07	0.335167	1	0
ARFGEF2	10564	broad.mit.edu	37	20	47606137	47606137	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:47606137G>T	ENST00000371917.4	+	20	2730	c.2730G>T	c.(2728-2730)caG>caT	p.Q910H		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	910					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TCGGACTCCAGAACTGTGATG	0.488000													33	118					1.7489e-18	3.20711e-18	0.859065	1	0
PDE8B	8622	broad.mit.edu	37	5	76621379	76621379	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:76621379G>T	ENST00000264917.5	+	3	460	c.415G>T	c.(415-417)Gca>Tca	p.A139S	PDE8B_ENST00000333194.4_Missense_Mutation_p.A139S|PDE8B_ENST00000346042.3_Missense_Mutation_p.A139S|PDE8B_ENST00000342343.4_Missense_Mutation_p.A119S|PDE8B_ENST00000340978.3_Missense_Mutation_p.A139S	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	139					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GCTGATCTTTGCAAAGGAAGA	0.458000													15	111					3.41278e-10	5.04541e-10	0.520397	1	0
ASXL3	80816	broad.mit.edu	37	18	31325174	31325174	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:31325174G>T	ENST00000269197.5	+	12	5362	c.5362G>T	c.(5362-5364)Ggt>Tgt	p.G1788C		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1788					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						TACCTCAGTGGGTAAAACAGC	0.507000													53	58					4.1673e-28	8.42493e-28	0.870114	1	0
EML5	161436	broad.mit.edu	37	14	89202855	89202855	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:89202855T>A	ENST00000554922.1	-	7	1150	c.902A>T	c.(901-903)cAg>cTg	p.Q301L	EML5_ENST00000380664.5_Missense_Mutation_p.Q301L|EML5_ENST00000352093.5_Missense_Mutation_p.Q301L	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	301						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TTCACTGTCCTGTGTTCCAAC	0.358000													25	123					0	0	0.779181	0	0
SLC28A1	9154	broad.mit.edu	37	15	85478699	85478699	+	Missense_Mutation	SNP	C	C	T	rs142066214		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:85478699C>T	ENST00000394573.1	+	15	1733	c.1531C>T	c.(1531-1533)Cgc>Tgc	p.R511C	SLC28A1_ENST00000537216.1_Missense_Mutation_p.R511C|SLC28A1_ENST00000537624.1_Missense_Mutation_p.R511C|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000286749.3_Missense_Mutation_p.R511C	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	511					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAAGCAACGCCGCCTGGCAGG	0.622000													27	134					0	0	0.779181	0	0
KIAA1377	57562	broad.mit.edu	37	11	101833043	101833043	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:101833043C>T	ENST00000263468.8	+	6	1547	c.1277C>T	c.(1276-1278)tCt>tTt	p.S426F	KIAA1377_ENST00000537689.1_Missense_Mutation_p.S227F	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	426							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ACTTCAGATTCTCTAACCCAG	0.388000													15	61					0	0	0.557998	0	0
KCNT1	57582	broad.mit.edu	37	9	138660719	138660719	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:138660719C>A	ENST00000298480.5	+	15	1520	c.1446C>A	c.(1444-1446)gcC>gcA	p.A482A	KCNT1_ENST00000488444.2_Silent_p.A463A|KCNT1_ENST00000371757.2_Silent_p.A482A|KCNT1_ENST00000486577.2_Silent_p.A443A|KCNT1_ENST00000491806.2_Silent_p.A449A|KCNT1_ENST00000490355.2_Silent_p.A463A|KCNT1_ENST00000263604.3_Silent_p.A463A|KCNT1_ENST00000487664.1_Silent_p.A437A			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	482						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AGGACTTCGCCCCCAACTGCC	0.622000													12	61					4.3838e-07	5.72966e-07	0.435327	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28315751	28315751	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr21:28315751G>T	ENST00000284987.5	-	3	1474	c.1353C>A	c.(1351-1353)ccC>ccA	p.P451P		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	451	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						ATTTGGACCAGGGCTTAGATG	0.433000													4	35					5.9392e-07	7.72322e-07	0.217242	1	0
KIAA2026	158358	broad.mit.edu	37	9	5968569	5968569	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:5968569C>A	ENST00000399933.3	-	3	1661	c.1662G>T	c.(1660-1662)ttG>ttT	p.L554F	KIAA2026_ENST00000381461.2_Missense_Mutation_p.L554F	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	554										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CATGATTATCCAAGATCATTT	0.363000													20	49					3.01185e-09	4.30684e-09	0.667858	1	0
UGT2A1	10941	broad.mit.edu	37	4	70455349	70455349	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:70455349C>G	ENST00000503640.1	-	6	1380	c.1325G>C	c.(1324-1326)aGg>aCg	p.R442T	UGT2A1_ENST00000514019.1_Missense_Mutation_p.R608T|UGT2A2_ENST00000457664.2_Missense_Mutation_p.R451T|UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000512704.1_Missense_Mutation_p.R398T|UGT2A1_ENST00000286604.4_Missense_Mutation_p.R442T	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	442					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCTTGATAACCTCATAGCATT	0.373000													7	151					0	0	0.307466	0	0
SCUBE1	80274	broad.mit.edu	37	22	43715946	43715946	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:43715946G>A	ENST00000360835.3	-	3	472	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	SCUBE1_ENST00000290460.7_Silent_p.L116L	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	116	EGF-like 2; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CACTCACCCAGGCAGTTGTGT	0.552000													4	96					0	0	0.248553	0	0
TAF2	6873	broad.mit.edu	37	8	120807828	120807828	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:120807828C>A	ENST00000378164.2	-	9	1433	c.1135G>T	c.(1135-1137)Gga>Tga	p.G379*		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	379					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATCCAAAGTCCATAGATATAG	0.353000													5	75					0.00198382	0.00217109	0.248553	1	0
NR2F1	7025	broad.mit.edu	37	5	92929399	92929399	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:92929399C>A	ENST00000327111.3	+	3	2810	c.1123C>A	c.(1123-1125)Ccc>Acc	p.P375T	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	375					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GCTGCGACTGCCCTCGCTGCG	0.587000													26	103					1.2476e-16	2.2146e-16	0.706142	1	0
OAS2	4939	broad.mit.edu	37	12	113447007	113447007	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:113447007G>T	ENST00000392583.2	+	10	2218	c.2011G>T	c.(2011-2013)Gat>Tat	p.D671Y	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Missense_Mutation_p.D671Y	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	671	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	p.D671N(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CTGCTTCAAGGATGGGACTGG	0.512000													70	286					1.59627e-33	3.30196e-33	0.870114	1	0
ITGAD	3681	broad.mit.edu	37	16	31426237	31426237	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:31426237G>A	ENST00000389202.2	+	18	2257	c.2208G>A	c.(2206-2208)gtG>gtA	p.V736V		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	736					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCTCACTGGTGAGAGAGCCCA	0.562000													19	104					0	0	0.575678	0	0
GGT3P	2679	broad.mit.edu	37	22	18769205	18769205	+	RNA	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:18769205C>A	ENST00000412448.1	-	0	1081																											CCAGCCGCGGCAGGGTCAGTC	0.637000													12	121					6.81908e-15	1.15643e-14	0.457914	1	0
PRAMEF1	65121	broad.mit.edu	37	1	12856029	12856029	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:12856029C>A	ENST00000332296.7	+	4	1412	c.1309C>A	c.(1309-1311)Ctg>Atg	p.L437M	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.L192M	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	437										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCGGGCTGAGCTGATGTGTAC	0.557000													15	848					4.75885e-15	8.11734e-15	0.520397	1	0
CYP4F12	66002	broad.mit.edu	37	19	15794432	15794432	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:15794432C>T	ENST00000550308.1	+	7	1157	c.777C>T	c.(775-777)gcC>gcT	p.A259A	CYP4F12_ENST00000324632.9_Silent_p.A259A	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					TCCACAGGGCCTGCCGCCTGG	0.552000													31	51					0	0	0.819951	0	0
PRG4	10216	broad.mit.edu	37	1	186277304	186277304	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:186277304C>A	ENST00000445192.2	+	7	2498	c.2453C>A	c.(2452-2454)cCt>cAt	p.P818H	PRG4_ENST00000367483.4_Missense_Mutation_p.P777H|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.P725H|PRG4_ENST00000367486.3_Missense_Mutation_p.P775H	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	818	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TCTGACAAGCCTGCTCCAACT	0.597000													46	250					2.43139e-17	4.34601e-17	0.870114	1	0
DPP6	1804	broad.mit.edu	37	7	154585810	154585810	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:154585810G>A	ENST00000404039.1	+	11	1553	c.966G>A	c.(964-966)gtG>gtA	p.V322V	DPP6_ENST00000427557.1_Silent_p.V279V|DPP6_ENST00000377770.3_Silent_p.V386V|DPP6_ENST00000332007.3_Silent_p.V324V	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	386					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCACCATGGTGAAGTGGGCCA	0.652000													9	55					0	0	0.307466	0	0
CCDC108	255101	broad.mit.edu	37	2	219892996	219892996	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:219892996T>C	ENST00000341552.5	-	12	1861	c.1778A>G	c.(1777-1779)gAc>gGc	p.D593G	CCDC108_ENST00000409865.3_Missense_Mutation_p.D582G|CCDC108_ENST00000453220.1_Missense_Mutation_p.D593G|CCDC108_ENST00000441968.1_Missense_Mutation_p.D593G|CCDC108_ENST00000410037.1_Missense_Mutation_p.D528G	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	593						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATCCAGGATGTCAGGGGGGTA	0.617000													7	69					0	0	0.335167	0	0
KIAA0556	23247	broad.mit.edu	37	16	27751437	27751437	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:27751437G>T	ENST00000261588.4	+	15	1838	c.1819G>T	c.(1819-1821)Gga>Tga	p.G607*		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	607										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GTTAGACAAAGGAGATAGGGA	0.473000													27	53					4.02929e-09	5.75372e-09	0.750413	1	0
TBCD	6904	broad.mit.edu	37	17	80758783	80758783	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:80758783G>T	ENST00000355528.4	+	9	991	c.861G>T	c.(859-861)gaG>gaT	p.E287D	TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Missense_Mutation_p.E287D	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	287					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GACTCCCTGAGAGCAACCAGA	0.602000													18	98					1.50538e-07	2.0203e-07	0.706142	1	0
PHF2	5253	broad.mit.edu	37	9	96408012	96408012	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:96408012G>T	ENST00000359246.4	+	4	768	c.401G>T	c.(400-402)gGg>gTg	p.G134V	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	134					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AAGAAAGACGGGCTGGGTCTG	0.627000													15	97					3.32936e-07	4.36819e-07	0.539581	1	0
SLC9A2	6549	broad.mit.edu	37	2	103281694	103281694	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:103281694G>T	ENST00000233969.2	+	3	1031	c.889G>T	c.(889-891)Gca>Tca	p.A297S		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	297						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CTTTATAGCGGCATTTACTAC	0.438000													4	103					0.0215528	0.0226801	0.217242	1	0
DOCK2	1794	broad.mit.edu	37	5	169081460	169081460	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:169081460G>A	ENST00000256935.8	+	2	177	c.97G>A	c.(97-99)Gat>Aat	p.D33N		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	33	SH3.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCAGATCGGCGATGTGGTGCG	0.567000													5	76					0	0	0.217242	0	0
C3orf22	152065	broad.mit.edu	37	3	126270917	126270917	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:126270917C>A	ENST00000318225.2	-	3	516	c.138G>T	c.(136-138)gaG>gaT	p.E46D		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	46										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		CGTTTGTGACCTCCCAGGGCT	0.612000													4	113					0.00024832	0.000283873	0.150653	1	0
FOXN2	3344	broad.mit.edu	37	2	48573417	48573417	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:48573417G>T	ENST00000340553.3	+	3	325	c.64G>T	c.(64-66)Gca>Tca	p.A22S		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	22					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TGAAAAGATTGCAGGATTAAG	0.453000													18	113					2.37509e-13	3.90207e-13	0.592651	1	0
THBS2	7058	broad.mit.edu	37	6	169648766	169648766	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:169648766C>A	ENST00000366787.3	-	4	604	c.355G>T	c.(355-357)Ggc>Tgc	p.G119C		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	119	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TCCGCGGGGCCGTTGGAGACG	0.657000													24	113					1.30897e-18	2.40682e-18	0.740014	1	0
ACAN	176	broad.mit.edu	37	15	89395200	89395200	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:89395200C>A	ENST00000439576.2	+	11	2576	c.2202C>A	c.(2200-2202)acC>acA	p.T734T	ACAN_ENST00000352105.7_Silent_p.T734T|ACAN_ENST00000559004.1_Silent_p.T734T|ACAN_ENST00000561243.1_Silent_p.T734T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	734					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGTTCACCACCGAGCCAGAAA	0.582000													8	21					0.00621372	0.00666173	0.335167	1	0
EDAR	10913	broad.mit.edu	37	2	109527497	109527497	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:109527497G>A	ENST00000409271.1	-	8	1004	c.561C>T	c.(559-561)gcC>gcT	p.A187A	EDAR_ENST00000376651.1_Silent_p.A187A|EDAR_ENST00000258443.2_Silent_p.A187A			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	187					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CAATGATCAGGGCAGTGGCCA	0.557000													6	66					0	0	0.278610	0	0
HDAC9	9734	broad.mit.edu	37	7	18687451	18687451	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:18687451C>T	ENST00000406451.3	+	10	1220	c.1070C>T	c.(1069-1071)aCg>aTg	p.T357M	HDAC9_ENST00000405010.3_Missense_Mutation_p.T357M|HDAC9_ENST00000456174.2_Missense_Mutation_p.T329M|HDAC9_ENST00000524023.1_Missense_Mutation_p.T280M|HDAC9_ENST00000406072.1_Missense_Mutation_p.T344M|HDAC9_ENST00000432645.2_Missense_Mutation_p.T357M|HDAC9_ENST00000417496.2_Missense_Mutation_p.T355M|HDAC9_ENST00000401921.1_Missense_Mutation_p.T316M|HDAC9_ENST00000428307.2_Missense_Mutation_p.T313M|HDAC9_ENST00000441542.2_Missense_Mutation_p.T360M	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	357					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GAGACGCAGACGCTTAGGCAA	0.498000													3	18					0	0	0.115264	0	0
ZNF724P	440519	broad.mit.edu	37	19	23414979	23414979	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:23414979C>A	ENST00000418100.1	-	2	237	c.120G>T	c.(118-120)ctG>ctT	p.L40L	ZNF724P_ENST00000597037.1_Silent_p.L40L																endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						CCAGGAAGACCAGGTTTCTGT	0.388000													15	158					1.55795e-14	2.61827e-14	0.608945	1	0
FBL	2091	broad.mit.edu	37	19	40328480	40328480	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:40328480C>A	ENST00000221801.3	-	6	666	c.553G>T	c.(553-555)Ggt>Tgt	p.G185C	FBL_ENST00000593503.1_5'UTR	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	185					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TAGACTAGACCATCCtaaaat	0.453000													5	40					0.184627	0.187367	0.184627	1	0
ARNT	405	broad.mit.edu	37	1	150795745	150795745	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:150795745C>T	ENST00000358595.5	-	14	1519	c.1319G>A	c.(1318-1320)aGa>aAa	p.R440K	ARNT_ENST00000354396.2_Missense_Mutation_p.R440K|ARNT_ENST00000515192.1_Missense_Mutation_p.R426K|ARNT_ENST00000505755.1_Missense_Mutation_p.R425K	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	440	PAC.				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAGCTGGTTCTCATCCAGAG	0.413000			T	ETV6	AML								29	106					0	0	0.740014	0	0
DTNA	1837	broad.mit.edu	37	18	32374168	32374168	+	Missense_Mutation	SNP	C	C	G	rs140768365	byFrequency	TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:32374168C>G	ENST00000283365.9	+	5	667	c.316C>G	c.(316-318)Cag>Gag	p.Q106E	DTNA_ENST00000269190.7_Missense_Mutation_p.Q106E|DTNA_ENST00000597599.1_Missense_Mutation_p.Q106E|DTNA_ENST00000596745.1_Missense_Mutation_p.Q106E|DTNA_ENST00000595022.1_Missense_Mutation_p.Q106E|DTNA_ENST00000598774.1_Missense_Mutation_p.Q106E|DTNA_ENST00000554864.3_Missense_Mutation_p.Q106E|DTNA_ENST00000444659.1_Missense_Mutation_p.Q106E|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000348997.5_Missense_Mutation_p.Q106E|DTNA_ENST00000399121.5_Missense_Mutation_p.Q106E|DTNA_ENST00000315456.6_Missense_Mutation_p.Q106E|DTNA_ENST00000269191.6_Missense_Mutation_p.Q106E|DTNA_ENST00000598142.1_Missense_Mutation_p.Q106E|DTNA_ENST00000598334.1_Missense_Mutation_p.Q106E|DTNA_ENST00000399113.3_Missense_Mutation_p.Q106E	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	106	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CCATGTGGAGCAGTCCATCAG	0.488000													16	114					0	0	0.608945	0	0
TMEM132D	121256	broad.mit.edu	37	12	129566327	129566327	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:129566327C>A	ENST00000422113.2	-	7	2226	c.1900G>T	c.(1900-1902)Gag>Tag	p.E634*	TMEM132D_ENST00000389441.4_Nonsense_Mutation_p.E172*	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	634						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATCCCAAGCTCCTGCCCCATC	0.498000													8	67					3.86212e-05	4.5625e-05	0.361761	1	0
SKAP2	8935	broad.mit.edu	37	7	26729961	26729961	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:26729961G>C	ENST00000345317.2	-	10	1130	c.817C>G	c.(817-819)Cca>Gca	p.P273A	SKAP2_ENST00000489977.1_5'UTR|SKAP2_ENST00000539623.1_Missense_Mutation_p.P101A	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	273					B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						ACTTTCACTGGAGCACTGTCC	0.388000													3	88					0	0	0.115264	0	0
PCDH10	57575	broad.mit.edu	37	4	134073851	134073851	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:134073851C>A	ENST00000264360.4	+	1	3382	c.2556C>A	c.(2554-2556)ccC>ccA	p.P852P		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	852					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AGCACAACCCCTGCGGGGCCA	0.572000													14	61					6.94344e-10	1.01409e-09	0.539581	1	0
RELB	5971	broad.mit.edu	37	19	45515474	45515474	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:45515474G>T	ENST00000221452.8	+	4	594	c.444G>T	c.(442-444)tcG>tcT	p.S148S	RELB_ENST00000505236.1_Silent_p.S145S|RELB_ENST00000540120.1_Silent_p.S148S	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	148	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		AGGGCCGCTCGGCCGGCAGCA	0.761000													7	37					1.76689e-08	2.46309e-08	0.335167	1	0
UGT1A7	54577	broad.mit.edu	37	2	234590873	234590873	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:234590873G>T	ENST00000373426.3	+	1	290	c.290G>T	c.(289-291)cGc>cTc	p.R97L	UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCCGATGCTCGCTGGACGGCA	0.423000													29	145					2.80507e-11	4.34088e-11	0.760397	1	0
HCRTR2	3062	broad.mit.edu	37	6	55142371	55142371	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:55142371C>A	ENST00000370862.3	+	5	1292	c.956C>A	c.(955-957)cCa>cAa	p.P319Q		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	319					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGCTATCTACCAATTAGCATC	0.363000													9	51					0.00185496	0.00204205	0.435327	1	0
ABCC6	368	broad.mit.edu	37	16	16282813	16282813	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:16282813C>T	ENST00000205557.7	-	13	1683	c.1654G>A	c.(1654-1656)Gct>Act	p.A552T	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	552	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GTGTGGACAGCAAACACCACC	0.587000													4	105					0	0	0.217242	0	0
COL5A2	1290	broad.mit.edu	37	2	189898884	189898884	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:189898884C>A	ENST00000374866.3	-	54	4686	c.4412G>T	c.(4411-4413)cGc>cTc	p.R1471L		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1471	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.R1471H(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GATGGGCAAGCGTGCCACATT	0.423000													4	51					0.00909568	0.00968067	0.150653	1	0
PRIM2	5558	broad.mit.edu	37	6	57372297	57372297	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:57372297A>T	ENST00000607273.1	+	8	790	c.703A>T	c.(703-705)Agg>Tgg	p.R235W	PRIM2_ENST00000389488.2_3'UTR	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	235					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)		GTTAACAGCCAGGTCCTTGCC	0.413000													4	61					0	0	0.217242	0	0
KRT78	196374	broad.mit.edu	37	12	53238454	53238454	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:53238454C>A	ENST00000359499.4	-	5	491	c.480G>T	c.(478-480)atG>atT	p.M160I	KRT78_ENST00000304620.4_Missense_Mutation_p.M270I			Q8N1N4	K2C78_HUMAN	keratin 78	270	Linker 1.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GGTTGTTGTCCATGGACAGCA	0.627000													4	101					0.150653	0.154185	0.150653	1	0
HSD17B12	51144	broad.mit.edu	37	11	43775613	43775613	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:43775613G>A	ENST00000278353.4	+	3	344	c.225G>A	c.(223-225)atG>atA	p.M75I	HSD17B12_ENST00000395700.4_Missense_Mutation_p.M75I|HSD17B12_ENST00000529261.1_3'UTR	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	75					long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity			endometrium(2)|large_intestine(4)|lung(4)	10						AGCATGGAATGAAGGTTGTCC	0.348000													25	132					0	0	0.779181	0	0
INTU	27152	broad.mit.edu	37	4	128584668	128584668	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:128584668A>T	ENST00000335251.5	+	4	1004	c.901A>T	c.(901-903)Agt>Tgt	p.S301C	INTU_ENST00000296461.5_Missense_Mutation_p.S301C	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	301										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TATCCAGCAGAGTGGCCTAAA	0.448000													18	79					0	0	0.654019	0	0
PKD2	5311	broad.mit.edu	37	4	88957380	88957380	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:88957380G>A	ENST00000237596.2	+	3	784	c.718G>A	c.(718-720)Ggc>Agc	p.G240S		NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	240						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		AGTGACCTACGGCATGATGAG	0.483000													29	184					0	0	0.804634	0	0
NCAPG2	54892	broad.mit.edu	37	7	158468308	158468308	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:158468308C>A	ENST00000409339.3	-	12	1300	c.1187G>T	c.(1186-1188)gGg>gTg	p.G396V	NCAPG2_ENST00000275830.10_Missense_Mutation_p.G188V|NCAPG2_ENST00000449727.2_Missense_Mutation_p.G396V|NCAPG2_ENST00000356309.3_Missense_Mutation_p.G396V|NCAPG2_ENST00000409423.1_Missense_Mutation_p.G396V			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	396					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		ACCAAGGATCCCTGTGGAACG	0.443000													23	74					4.72057e-08	6.46205e-08	0.667858	1	0
AZGP1	563	broad.mit.edu	37	7	99569538	99569538	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:99569538G>T	ENST00000411734.1	-	2	164	c.159C>A	c.(157-159)ctC>ctA	p.L53L	AZGP1_ENST00000292401.4_Silent_p.L56L			P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	56					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TAAAGAACTGGAGGTCATTGA	0.507000													12	106					3.07112e-06	3.8403e-06	0.387290	1	0
PRDM16	63976	broad.mit.edu	37	1	3319530	3319530	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:3319530G>T	ENST00000378398.3	+	7	937	c.855G>T	c.(853-855)aaG>aaT	p.K285N	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.K284N|PRDM16_ENST00000441472.2_Missense_Mutation_p.K284N|PRDM16_ENST00000514189.1_Missense_Mutation_p.K285N|PRDM16_ENST00000511072.1_Missense_Mutation_p.K285N|PRDM16_ENST00000378391.2_Missense_Mutation_p.K284N|PRDM16_ENST00000270722.5_Missense_Mutation_p.K284N			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	284					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ACGAGTGCAAGGACTGCGAGC	0.657000			T	EVI1	"""MDS, AML"""								9	89					9.05144e-12	1.42874e-11	0.435327	1	0
HIST1H2AE	3012	broad.mit.edu	37	6	26217562	26217562	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:26217562G>T	ENST00000303910.2	+	1	398	c.360G>T	c.(358-360)aaG>aaT	p.K120N		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	120					nucleosome assembly	nucleosome|nucleus	DNA binding	p.K120N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TGCCTAAGAAGACGGAGAGCC	0.542000													8	65					1.08611e-07	1.4624e-07	0.387290	1	0
SHANK1	50944	broad.mit.edu	37	19	51207759	51207759	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:51207759T>C	ENST00000293441.1	-	8	1108	c.1090A>G	c.(1090-1092)Agg>Ggg	p.R364G	SHANK1_ENST00000359082.3_Missense_Mutation_p.R364G|SHANK1_ENST00000391814.1_Missense_Mutation_p.R364G	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	364					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGGAGGATCCTGGCACAGGTC	0.542000													34	144					0	0	0.804634	0	0
TXLNB	167838	broad.mit.edu	37	6	139591616	139591616	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:139591616G>T	ENST00000358430.3	-	4	896	c.664C>A	c.(664-666)Cag>Aag	p.Q222K		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	222						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TTGTGTCTCTGCAGCTCCCGG	0.468000													14	80					1.22574e-08	1.7157e-08	0.624587	1	0
ILDR2	387597	broad.mit.edu	37	1	166904685	166904685	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:166904685C>A	ENST00000271417.3	-	6	788	c.733G>T	c.(733-735)Ggg>Tgg	p.G245W	ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000529071.1_Missense_Mutation_p.G226W|ILDR2_ENST00000469934.2_Missense_Mutation_p.G245W|ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000525740.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	245						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GGAGGGTACCCGGCCTTTGCT	0.587000													7	33					0.00448238	0.00485631	0.307466	1	0
GABRA6	2559	broad.mit.edu	37	5	161113240	161113240	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:161113240G>T	ENST00000523217.1	+	2	285	c.43G>T	c.(43-45)Gaa>Taa	p.E15*	GABRA6_ENST00000274545.5_Nonsense_Mutation_p.E15*|GABRA6_ENST00000522269.1_3'UTR	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	15					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACACAGGCTAGAAAATGCCCT	0.458000										TCGA Ovarian(5;0.080)			13	35					1.05317e-09	1.53053e-09	0.457914	1	0
RYR2	6262	broad.mit.edu	37	1	237494206	237494206	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:237494206C>A	ENST00000366574.2	+	3	514	c.197C>A	c.(196-198)aCc>aAc	p.T66N	RYR2_ENST00000360064.6_Missense_Mutation_p.P64T|RYR2_ENST00000542537.1_Missense_Mutation_p.T50N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	66					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCCATCTGCACCTTTGTGCTG	0.532000													19	111					1.87028e-06	2.37783e-06	0.608945	1	0
PCDHB4	56131	broad.mit.edu	37	5	140502450	140502450	+	Silent	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:140502450T>A	ENST00000194152.1	+	1	870	c.870T>A	c.(868-870)acT>acA	p.T290T		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		290	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTAAACAAACTTTCTCAATAA	0.348000													32	51					0	0	0.779181	0	0
NRXN3	9369	broad.mit.edu	37	14	79181408	79181408	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:79181408T>A	ENST00000554719.1	+	5	1342	c.851T>A	c.(850-852)gTg>gAg	p.V284E	NRXN3_ENST00000335750.5_Missense_Mutation_p.V284E	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AATAATGCTGTGTGCAAGGAC	0.577000													17	88					0	0	0.575678	0	0
RECQL5	9400	broad.mit.edu	37	17	73657128	73657128	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:73657128C>A	ENST00000420326.2	-	6	1052	c.893G>T	c.(892-894)aGa>aTa	p.R298I	RECQL5_ENST00000584999.1_Missense_Mutation_p.R298I|RECQL5_ENST00000317905.5_Missense_Mutation_p.R298I|RECQL5_ENST00000340830.5_Missense_Mutation_p.R298I|RECQL5_ENST00000423245.2_Missense_Mutation_p.R271I	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	298	Helicase C-terminal.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CACCAGCGTTCTTTCAGAGGC	0.502000								Other identified genes with known or suspected DNA repair function					19	97					6.12954e-19	1.1311e-18	0.681144	1	0
ANKRD42	338699	broad.mit.edu	37	11	82951976	82951976	+	Splice_Site	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:82951976A>T	ENST00000260047.6	+	9	1987	c.1192_splice	c.e9+1	p.M398_splice	ANKRD42_ENST00000393392.2_Splice_Site_p.R371_splice|ANKRD42_ENST00000533342.1_Splice_Site_p.M399_splice|ANKRD42_ENST00000531895.1_Splice_Site_p.M399_splice			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	0										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						AGATGCCAGAAGTAAGTATGC	0.363000													20	94					0	0	0.624587	0	0
CD6	923	broad.mit.edu	37	11	60739383	60739383	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:60739383T>C	ENST00000313421.7	+	1	232	c.46T>C	c.(46-48)Tca>Cca	p.S16P	CD6_ENST00000344028.5_Missense_Mutation_p.S16P|CD6_ENST00000452451.2_Missense_Mutation_p.S16P|CD6_ENST00000352009.5_Missense_Mutation_p.S16P|CD6_ENST00000346437.4_Missense_Mutation_p.S16P|CD6_ENST00000545105.1_3'UTR	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	16					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						GGCAGCCCTCTCAGGTAGGCC	0.602000													3	60					0	0	0.150653	0	0
FMN2	56776	broad.mit.edu	37	1	240371569	240371569	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:240371569C>A	ENST00000319653.9	+	5	3687	c.3457C>A	c.(3457-3459)Cct>Act	p.P1153T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1153	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGGCATACCCCCTCCGCCCCC	0.706000													9	85					1.56738e-10	2.35796e-10	0.796494	1	0
TMEM244	253582	broad.mit.edu	37	6	130166913	130166913	+	Splice_Site	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:130166913C>G	ENST00000438392.1	-	3	298	c.119_splice	c.e3+1	p.E40_splice	TMEM244_ENST00000368143.1_Splice_Site_p.E40_splice			Q5VVB8	CF191_HUMAN	transmembrane protein 244	40						integral to membrane		p.E40Q(1)									GCTACTTACTCAAACATCACG	0.348000													13	112					0	0	0.520397	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769912	31769912	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:31769912G>A	ENST00000240587.4	-	2	1114	c.787C>T	c.(787-789)Ctg>Ttg	p.L263L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	263					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCCATTTCCAGCAAGGAGCGT	0.542000													17	302					0	0	0.557998	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47115600	47115600	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:47115600C>G	ENST00000290341.3	+	6	806	c.472C>G	c.(472-474)Cag>Gag	p.Q158E	IGF2BP1_ENST00000431824.2_Intron	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	158					CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCCCGATGAGCAGATAGCACA	0.622000													21	98					0	0	0.639603	0	0
FRMPD2	143162	broad.mit.edu	37	10	49420093	49420093	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:49420093C>T	ENST00000374201.3	-	13	1817	c.1515G>A	c.(1513-1515)gaG>gaA	p.E505E	FRMPD2_ENST00000407470.4_Silent_p.E473E|FRMPD2_ENST00000305531.3_Silent_p.E480E	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	505	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CGGTCATCCTCTCGATCAGAC	0.522000													3	47					0	0	0.217242	0	0
SSPO	23145	broad.mit.edu	37	7	149523555	149523555	+	RNA	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:149523555G>T	ENST00000378016.2	+	0	14469							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCCTGGCCAGGTGCTTAGTG	0.672000													11	47					7.03913e-09	9.94101e-09	0.411799	1	0
SLC22A6	9356	broad.mit.edu	37	11	62751815	62751815	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:62751815G>T	ENST00000377871.3	-	1	614	c.348C>A	c.(346-348)ttC>ttA	p.F116L	SLC22A6_ENST00000360421.4_Missense_Mutation_p.F116L|SLC22A6_ENST00000458333.2_Missense_Mutation_p.F116L|SLC22A6_ENST00000421062.2_Missense_Mutation_p.F116L	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	116					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TGGTAGATGGGAAGGTGCTGT	0.552000													23	109					1.5548e-18	2.85371e-18	0.693898	1	0
ZIK1	284307	broad.mit.edu	37	19	58101927	58101927	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:58101927G>T	ENST00000597850.1	+	4	963	c.748G>T	c.(748-750)Ggc>Tgc	p.G250C	ZIK1_ENST00000599456.1_Missense_Mutation_p.G195C|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Missense_Mutation_p.G237C	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGCCTTCCGTGGCAAGTACTC	0.468000													10	65					9.31168e-06	1.14417e-05	0.435327	1	0
SH3PXD2A	9644	broad.mit.edu	37	10	105362386	105362386	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:105362386C>A	ENST00000369774.4	-	15	2865	c.2589G>T	c.(2587-2589)gcG>gcT	p.A863A	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Silent_p.A698A|SH3PXD2A_ENST00000355946.2_Silent_p.A835A|SH3PXD2A_ENST00000540321.1_Silent_p.A730A|SH3PXD2A_ENST00000315994.6_5'UTR			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	863	SH3 4.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CCTCCACGCCCGCGGGGAAGC	0.627000													10	58					0.361761	0.365501	0.361761	1	0
ASPM	259266	broad.mit.edu	37	1	197115333	197115333	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:197115333T>A	ENST00000367409.4	-	1	491	c.235A>T	c.(235-237)Atc>Ttc	p.I79F	ASPM_ENST00000294732.7_Missense_Mutation_p.I79F	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	79					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AAGTGGGAGATCTTCACTTCT	0.612000													33	217					0	0	0.812448	0	0
CACNA1I	8911	broad.mit.edu	37	22	40068267	40068267	+	Missense_Mutation	SNP	G	G	A	rs59154418		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:40068267G>A	ENST00000336649.4	+	30	4621	c.4621G>A	c.(4621-4623)Gtg>Atg	p.V1541M	CACNA1I_ENST00000402142.3_Missense_Mutation_p.V1535M|CACNA1I_ENST00000407673.1_Missense_Mutation_p.V1500M|CACNA1I_ENST00000400164.3_Missense_Mutation_p.V1500M|CACNA1I_ENST00000404898.1_Missense_Mutation_p.V1500M|CACNA1I_ENST00000401624.1_Missense_Mutation_p.V1535M			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1535					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCTGGAGGCTGTGCTGAAGCT	0.522000													102	290					0	0	0.870114	0	0
TUBB8	347688	broad.mit.edu	37	10	94605	94605	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:94605A>G	ENST00000447903.2	-	3	326	c.11T>C	c.(10-12)gTg>gCg	p.V4A	TUBB8_ENST00000332708.5_Missense_Mutation_p.C40R|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000309812.4_Missense_Mutation_p.V76A			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	76					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CCCCGAGCGCACAGAGTCCAT	0.697000													18	103					0	0	0.624587	0	0
NAA30	122830	broad.mit.edu	37	14	57858302	57858302	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:57858302G>T	ENST00000556492.1	+	2	781	c.627G>T	c.(625-627)gaG>gaT	p.E209D	NAA30_ENST00000554703.1_Intron|NAA30_ENST00000555166.1_Intron	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	209						cytoplasm	peptide alpha-N-acetyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						AGCCTGGGGAGGATCGGACGA	0.542000													5	136					8.12818e-05	9.4606e-05	0.248553	1	0
PEX5L	51555	broad.mit.edu	37	3	179593237	179593237	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:179593237G>T	ENST00000467460.1	-	6	864	c.534C>A	c.(532-534)gaC>gaA	p.D178E	PEX5L_ENST00000465751.1_Missense_Mutation_p.D154E|PEX5L_ENST00000476138.1_Missense_Mutation_p.D135E|PEX5L_ENST00000464614.1_Missense_Mutation_p.D70E|PEX5L_ENST00000392649.3_Missense_Mutation_p.D70E|PEX5L_ENST00000472994.1_Missense_Mutation_p.D119E|PEX5L_ENST00000263962.8_Missense_Mutation_p.D176E|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000485199.1_Missense_Mutation_p.D143E|PEX5L_ENST00000467440.2_5'UTR	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	178					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			ACTTAACATCGTCCCATTTTT	0.498000													11	53					0.000308642	0.000350295	0.479597	1	0
KALRN	8997	broad.mit.edu	37	3	124048717	124048717	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:124048717G>T	ENST00000360013.3	+	8	1415	c.1288G>T	c.(1288-1290)Gga>Tga	p.G430*	KALRN_ENST00000460856.1_Nonsense_Mutation_p.G430*|KALRN_ENST00000240874.3_Nonsense_Mutation_p.G430*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	430					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GTTCCTGTCGGGAGTGGATGC	0.562000													19	99					4.22769e-11	6.50805e-11	0.706142	1	0
CDH5	1003	broad.mit.edu	37	16	66413445	66413445	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:66413445G>T	ENST00000341529.3	+	2	353	c.205G>T	c.(205-207)Ggc>Tgc	p.G69C	CDH5_ENST00000563425.2_Missense_Mutation_p.G69C	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	69	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CCATCATGTAGGCAAGGTAAG	0.537000													6	18					0.0293803	0.0306811	0.248553	1	0
UGT1A6	54578	broad.mit.edu	37	2	234680959	234680959	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:234680959G>A	ENST00000305139.6	+	5	1492	c.1353G>A	c.(1351-1353)gtG>gtA	p.V451V	UGT1A8_ENST00000373450.4_Silent_p.V449V|UGT1A7_ENST00000373426.3_Silent_p.V449V|UGT1A6_ENST00000373424.1_Silent_p.V184V|UGT1A1_ENST00000305208.5_Silent_p.V452V|UGT1A10_ENST00000344644.5_Silent_p.V449V|UGT1A5_ENST00000373414.3_Silent_p.V453V|UGT1A9_ENST00000354728.4_Silent_p.V449V|UGT1A4_ENST00000373409.3_Silent_p.V453V|UGT1A3_ENST00000482026.1_Silent_p.V453V	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		ACCGCCCGGTGGAGCCGCTGG	0.587000													9	47					0	0	0.335167	0	0
BCAS4	55653	broad.mit.edu	37	20	49458367	49458367	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:49458367G>T	ENST00000358791.5	+	4	519	c.419G>T	c.(418-420)cGg>cTg	p.R140L	BCAS4_ENST00000371608.2_Missense_Mutation_p.R140L|BCAS4_ENST00000262591.5_Intron	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4	140						cytoplasm				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						CAGGCTGAGCGGGACCATGGG	0.632000													10	48					3.86212e-05	4.5625e-05	0.361761	1	0
ZIC4	84107	broad.mit.edu	37	3	147113650	147113650	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:147113650C>G	ENST00000383075.3	-	3	1189	c.677G>C	c.(676-678)cGa>cCa	p.R226P	ZIC4_ENST00000484399.1_Missense_Mutation_p.R226P|ZIC4_ENST00000473123.1_Missense_Mutation_p.R226P|ZIC4_ENST00000425731.3_Missense_Mutation_p.R264P|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Missense_Mutation_p.R276P	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	226						nucleus	DNA binding|zinc ion binding	p.R226Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TGTGTGAGTTCGTTTGTGTAT	0.562000													26	128					0	0	0.750413	0	0
NSDHL	50814	broad.mit.edu	37	X	152036208	152036208	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:152036208G>T	ENST00000370274.3	+	7	974	c.780G>T	c.(778-780)ctG>ctT	p.L260L	NSDHL_ENST00000440023.1_Silent_p.L260L	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	260					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	ACTCGACACTGGGTGGGAAGG	0.567000													10	28					0.00010058	0.00011667	0.411799	1	0
ZAN	7455	broad.mit.edu	37	7	100350292	100350292	+	RNA	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:100350292A>T	ENST00000542585.1	+	0	2712				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ATCTCCACAGAAAAACCCACC	0.512000													13	157					0	0	0.479597	0	0
WDFY3	23001	broad.mit.edu	37	4	85672768	85672768	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:85672768C>A	ENST00000322366.6	-	36	6248	c.5841G>T	c.(5839-5841)gtG>gtT	p.V1947V	WDFY3_ENST00000295888.4_Silent_p.V1947V			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1947						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCTTGGTGCCCACATTGCAGT	0.468000													25	149					7.01153e-11	1.0626e-10	0.717897	1	0
IBSP	3381	broad.mit.edu	37	4	88732820	88732820	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:88732820A>G	ENST00000226284.5	+	7	779	c.712A>G	c.(712-714)Aca>Gca	p.T238A		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	238					biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		GTTTGAACCTACAACCCCACC	0.522000													8	29					0	0	0.335167	0	0
RFX1	5989	broad.mit.edu	37	19	14083889	14083889	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:14083889G>C	ENST00000254325.4	-	9	1214	c.980C>G	c.(979-981)gCa>gGa	p.A327G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	327					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GCTGGTGCTTGCCGTCTGCGT	0.657000													7	43					0	0	0.278610	0	0
EML5	161436	broad.mit.edu	37	14	89181356	89181356	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:89181356C>A	ENST00000554922.1	-	9	1619	c.1371G>T	c.(1369-1371)ctG>ctT	p.L457L	EML5_ENST00000380664.5_Silent_p.L457L|EML5_ENST00000352093.5_Silent_p.L457L	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	457						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AAGACCAGTCCAGATGAGTGA	0.378000													9	42					6.42651e-13	1.0466e-12	0.387290	1	0
DIO2	1734	broad.mit.edu	37	14	80677693	80677693	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:80677693C>A	ENST00000557010.1	-	3	508	c.123G>T	c.(121-123)ttG>ttT	p.L41F	DIO2_ENST00000557125.1_Intron|DIO2_ENST00000422005.3_Missense_Mutation_p.L41F|DIO2_ENST00000555750.1_Missense_Mutation_p.L41F|DIO2_ENST00000438257.4_Missense_Mutation_p.L41F	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	41					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGGAGCGGCTCAACAGCAGCA	0.562000													4	39					0.00621372	0.00666173	0.335167	1	0
SYTL4	94121	broad.mit.edu	37	X	99956953	99956953	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:99956953C>A	ENST00000372981.1	-	2	267	c.81G>T	c.(79-81)gaG>gaT	p.E27D	SYTL4_ENST00000454200.2_Missense_Mutation_p.E27D|SYTL4_ENST00000263033.5_Missense_Mutation_p.E27D|SYTL4_ENST00000276141.6_Missense_Mutation_p.E27D|SYTL4_ENST00000455616.1_Missense_Mutation_p.E27D|SYTL4_ENST00000372989.1_Missense_Mutation_p.E27D			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	27	RabBD.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTTTCCGGACCTCTTCATCTC	0.443000													6	13					0.0477658	0.049628	0.307466	1	0
TIAM1	7074	broad.mit.edu	37	21	32589885	32589885	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr21:32589885C>A	ENST00000286827.3	-	10	2597	c.2126G>T	c.(2125-2127)cGg>cTg	p.R709L	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.R709L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	709					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GATGCTTGGCCGTCCCTGCTT	0.512000													5	168					8.12818e-05	9.4606e-05	0.248553	1	0
MED13	9969	broad.mit.edu	37	17	60088525	60088525	+	Silent	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:60088525T>C	ENST00000397786.2	-	9	1429	c.1353A>G	c.(1351-1353)caA>caG	p.Q451Q		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	451					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						TAGGAAGTATTTGTTGTTGCT	0.403000													3	52					0	0	0.150653	0	0
GLP1R	2740	broad.mit.edu	37	6	39033979	39033979	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:39033979C>A	ENST00000373256.4	+	5	452	c.409C>A	c.(409-411)Ccg>Acg	p.P137T		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	137				P -> R (in Ref. 4; no nucleotide entry).|SP -> WG (in Ref. 1; AAA03614).	activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	ACAGAGCTCCCCGGAGGAGCA	0.602000													10	40					0.000978159	0.0010879	0.387290	1	0
SLC35C2	51006	broad.mit.edu	37	20	44986370	44986370	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:44986370C>G	ENST00000372227.1	-	3	703	c.163G>C	c.(163-165)Gtg>Ctg	p.V55L	SLC35C2_ENST00000372229.1_Intron|SLC35C2_ENST00000543605.1_Missense_Mutation_p.V84L|SLC35C2_ENST00000372230.5_Missense_Mutation_p.V55L|SLC35C2_ENST00000317734.8_Missense_Mutation_p.V55L|SLC35C2_ENST00000243896.2_Missense_Mutation_p.V55L			Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	55					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				AGGAAGATCACGGCCAGGTGC	0.627000													13	70					0	0	0.539581	0	0
ZEB2	9839	broad.mit.edu	37	2	145161657	145161657	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:145161657C>A	ENST00000558170.2	-	6	1817	c.633G>T	c.(631-633)ctG>ctT	p.L211L	ZEB2_ENST00000539609.3_Silent_p.L187L|ZEB2_ENST00000409487.3_Silent_p.L211L|ZEB2_ENST00000303660.4_Silent_p.L211L	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	211						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		AGGGGCAGGTCAGCAGTTGGG	0.542000													10	80					6.40141e-05	7.50611e-05	0.387290	1	0
PSTPIP1	9051	broad.mit.edu	37	15	77329423	77329423	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:77329423T>A	ENST00000558012.1	+	15	1646	c.1157T>A	c.(1156-1158)cTg>cAg	p.L386Q	PSTPIP1_ENST00000379595.3_Missense_Mutation_p.L383Q|PSTPIP1_ENST00000557995.1_3'UTR|PSTPIP1_ENST00000559295.1_Missense_Mutation_p.L367Q|PSTPIP1_ENST00000267939.5_Missense_Mutation_p.L366Q	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	386	SH3.				cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity			breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GGAGACATCCTGGAGGTGATC	0.612000													18	61					0	0	0.592651	0	0
OR5K2	402135	broad.mit.edu	37	3	98217052	98217052	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:98217052C>A	ENST00000427338.1	+	1	605	c.528C>A	c.(526-528)caC>caA	p.H176Q	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ACATCAACCACTTTTACTGTG	0.403000													45	174					2.43139e-17	4.34601e-17	0.870114	1	0
PLEKHA6	22874	broad.mit.edu	37	1	204242841	204242841	+	Silent	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:204242841T>A	ENST00000272203.3	-	3	331	c.15A>T	c.(13-15)acA>acT	p.T5T	PLEKHA6_ENST00000414478.1_Silent_p.T5T	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	5										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GTTTCCCACCTGTTTTATTGG	0.527000													17	69					0	0	0.575678	0	0
POLQ	10721	broad.mit.edu	37	3	121178959	121178959	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:121178959C>A	ENST00000264233.5	-	25	7218	c.7090G>T	c.(7090-7092)Gca>Tca	p.A2364S		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2364					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTCCACTCTGCTGCAATGCTC	0.438000								DNA polymerases (catalytic subunits)					25	134					5.45727e-16	9.5386e-16	0.729181	1	0
TNFRSF13C	115650	broad.mit.edu	37	22	42321454	42321454	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:42321454C>A	ENST00000291232.3	-	3	516	c.472G>T	c.(472-474)Ggc>Tgc	p.G158C		NM_052945.3	NP_443177.1	Q96RJ3	TR13C_HUMAN	tumor necrosis factor receptor superfamily, member 13C	158						integral to membrane	receptor activity			lung(2)|urinary_tract(1)	3						ACACTGTGGCCAGGTGGGGTG	0.632000													25	70					6.07407e-21	1.14664e-20	0.717897	1	0
KIAA0754	643314	broad.mit.edu	37	1	39876945	39876945	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:39876945G>T	ENST00000530275.1	+	1	795	c.600G>T	c.(598-600)tgG>tgT	p.W200C	MACF1_ENST00000567887.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000289893.4_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	200										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGGAGAGTGGGAGGAAGAGA	0.458000											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	78					0.00307968	0.00335074	0.278610	1	0
HCN1	348980	broad.mit.edu	37	5	45262183	45262183	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:45262183C>G	ENST00000303230.4	-	8	2570	c.2513G>C	c.(2512-2514)cGc>cCc	p.R838P		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	838						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GAGGGTGACGCGCTGCGGGAC	0.672000													29	92					0	0	0.740014	0	0
RETSAT	54884	broad.mit.edu	37	2	85571210	85571210	+	Missense_Mutation	SNP	C	C	T	rs147993013		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:85571210C>T	ENST00000295802.4	-	9	1557	c.1445G>A	c.(1444-1446)cGg>cAg	p.R482Q	RETSAT_ENST00000263854.6_Intron|RETSAT_ENST00000457495.2_Missense_Mutation_p.R421Q|RETSAT_ENST00000475624.2_Intron	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	482					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GTCACTGCCCCGCTTTCCCTT	0.537000													4	98					0	0	0.184627	0	0
PLXNA2	5362	broad.mit.edu	37	1	208206757	208206757	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:208206757C>A	ENST00000367033.3	-	28	5719	c.4962G>T	c.(4960-4962)ctG>ctT	p.L1654L		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1654					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGTTCTTCACCAGATGCCACA	0.617000													29	96					2.70662e-09	3.89207e-09	0.740014	1	0
FAM91A1	157769	broad.mit.edu	37	8	124797354	124797354	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:124797354G>T	ENST00000334705.7	+	10	1090	c.844G>T	c.(844-846)Gtt>Ttt	p.V282F	FAM91A1_ENST00000521166.1_Missense_Mutation_p.V282F	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	282										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CTTATCCCTGGTTAAGGTATG	0.294000													10	184					2.27111e-07	3.01639e-07	0.411799	1	0
RP1L1	94137	broad.mit.edu	37	8	10465092	10465092	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:10465092C>A	ENST00000382483.3	-	4	6739	c.6516G>T	c.(6514-6516)gaG>gaT	p.E2172D		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2172					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)		CTGGTTGGGCCTCCTCTTCAG	0.627000													58	235					5.26073e-25	1.03798e-24	0.870114	1	0
CNKSR1	10256	broad.mit.edu	37	1	26507362	26507362	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:26507362G>T	ENST00000361530.6	+	3	512	c.367G>T	c.(367-369)Gac>Tac	p.D123Y	CNKSR1_ENST00000374253.5_Missense_Mutation_p.D123Y|CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000531191.1_5'UTR			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	123	CRIC.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GCATGAAGCTGACGCCCTCCT	0.572000													17	108					6.21321e-17	1.10673e-16	0.639603	1	0
CAMKK1	84254	broad.mit.edu	37	17	3789005	3789005	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:3789005T>A	ENST00000381769.2	-	2	70	c.58A>T	c.(58-60)Aga>Tga	p.R20*	CAMKK1_ENST00000381771.2_5'UTR|CAMKK1_ENST00000158166.5_5'UTR|CAMKK1_ENST00000348335.2_5'UTR	NM_172206.1	NP_757343.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	0					synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		GGGGTTCTTCTGCGTAGCCTT	0.592000													8	46					0	0	0.387290	0	0
EHMT1	79813	broad.mit.edu	37	9	140708894	140708894	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:140708894C>T	ENST00000460843.1	+	22	3219	c.3192C>T	c.(3190-3192)tgC>tgT	p.C1064C		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1064	Pre-SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ACTGCGTGTGCATCGACGACT	0.617000													22	130					0	0	0.729181	0	0
NCL	4691	broad.mit.edu	37	2	232324988	232324988	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:232324988C>A	ENST00000322723.4	-	6	1155	c.915G>T	c.(913-915)acG>acT	p.T305T		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	305					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		GATTGAAAGCCGTAGTCGGTT	0.368000													7	61					0.0477658	0.049628	0.307466	1	0
TLR10	81793	broad.mit.edu	37	4	38774914	38774914	+	Silent	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:38774914A>T	ENST00000308973.4	-	4	2903	c.2298T>A	c.(2296-2298)ctT>ctA	p.L766L	TLR10_ENST00000508334.1_Silent_p.L766L|TLR10_ENST00000361424.2_Silent_p.L766L|TLR10_ENST00000506111.1_Silent_p.L766L	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	766	TIR.				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TTGCCCAGAAAAGCCCACATT	0.413000													9	55					0	0	0.361761	0	0
NRP2	8828	broad.mit.edu	37	2	206562279	206562279	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:206562279G>A	ENST00000360409.3	+	2	876	c.85G>A	c.(85-87)Gga>Aga	p.G29R	NRP2_ENST00000417189.1_Missense_Mutation_p.G29R|NRP2_ENST00000357118.4_Missense_Mutation_p.G29R|NRP2_ENST00000540841.1_Missense_Mutation_p.G29R|NRP2_ENST00000540178.1_Missense_Mutation_p.G29R|NRP2_ENST00000272849.3_Missense_Mutation_p.G29R|NRP2_ENST00000412873.2_Missense_Mutation_p.G29R|NRP2_ENST00000357785.5_Missense_Mutation_p.G29R|NRP2_ENST00000355117.4_Missense_Mutation_p.G29R	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	29	CUB 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.G29*(4)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCCACCGTGCGGAGGTCGTTT	0.512000													77	542					0	0	0.870114	0	0
NBPF10	100132406	broad.mit.edu	37	1	145293269	145293269	+	Splice_Site	SNP	G	G	A	rs61350760	by1000genomes	TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:145293269G>A	ENST00000369338.1	+	1	155		c.e1+1		RP11-458D21.5_ENST00000468030.1_Splice_Site|NBPF10_ENST00000369339.2_Intron			A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10											NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTTCACAACAGTAAGTTAAGA	0.423000													6	36					0	0	0.278610	0	0
BCAN	63827	broad.mit.edu	37	1	156628383	156628383	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:156628383G>T	ENST00000329117.4	+	13	2822	c.2486G>T	c.(2485-2487)cGc>cTc	p.R829L	BCAN_ENST00000496038.1_3'UTR|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	829	Sushi.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTGTTCGGCCGCCCACGGCTG	0.632000													22	108					7.92952e-12	1.25454e-11	0.667858	1	0
NFKBIZ	64332	broad.mit.edu	37	3	101576180	101576180	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:101576180G>C	ENST00000326172.5	+	11	2095	c.1980G>C	c.(1978-1980)caG>caC	p.Q660H	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.Q538H|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.Q560H	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	660	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CCAGCTTGCAGTATCGGTTGA	0.478000													11	93					0	0	0.435327	0	0
OR2T27	403239	broad.mit.edu	37	1	248813414	248813414	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:248813414T>A	ENST00000344889.3	-	1	771	c.772A>T	c.(772-774)Aca>Tca	p.T258S		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGCACGTATGTGTACATGGCA	0.527000													7	29					0	0	0.387290	0	0
NBPF1	55672	broad.mit.edu	37	1	16914249	16914249	+	Silent	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:16914249A>T	ENST00000430580.2	-	10	1424	c.537T>A	c.(535-537)gcT>gcA	p.A179A		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	179	NBPF 1.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GTACTTTCTCAGCCTCCTCAA	0.428000													26	878					0	0	0.639603	0	0
REG1A	5967	broad.mit.edu	37	2	79348716	79348716	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:79348716G>T	ENST00000233735.1	+	3	196	c.93G>T	c.(91-93)caG>caT	p.Q31H		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	31					positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						AGTTGCCCCAGGCCCGGATCA	0.517000													47	183					6.3008e-33	1.29812e-32	0.870114	1	0
FADS3	3995	broad.mit.edu	37	11	61643463	61643463	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:61643463C>A	ENST00000527697.1	-	11	1152	c.801G>T	c.(799-801)acG>acT	p.T267T	FADS3_ENST00000540820.1_Intron|FADS3_ENST00000525588.1_Intron|FADS3_ENST00000278829.2_Intron			Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	387					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGGTGGGGAGCGTATGCTGGC	0.677000													22	117					5.35047e-06	6.63795e-06	0.654019	1	0
HK1	3098	broad.mit.edu	37	10	71154764	71154764	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:71154764G>T	ENST00000448642.2	+	21	2772	c.2383G>T	c.(2383-2385)Gac>Tac	p.D795Y	HK1_ENST00000404387.2_Missense_Mutation_p.D764Y|HK1_ENST00000360289.2_Missense_Mutation_p.D748Y|HK1_ENST00000298649.3_Missense_Mutation_p.D759Y|HK1_ENST00000359426.6_Missense_Mutation_p.D760Y			P19367	HXK1_HUMAN	hexokinase 1	760	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CATCTTAATCGACTTCACCAA	0.527000													4	38					0.014758	0.0156261	0.184627	1	0
ANKRD26	22852	broad.mit.edu	37	10	27389205	27389205	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:27389205C>A	ENST00000376087.4	-	1	216	c.51G>T	c.(49-51)gcG>gcT	p.A17A	ANKRD26_ENST00000436985.2_Silent_p.A17A	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	17						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TCTGCCGCCGCGCGAAGGAGC	0.657000													4	49					0.184627	0.187367	0.184627	1	0
ITSN2	50618	broad.mit.edu	37	2	24483995	24483995	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:24483995C>T	ENST00000355123.4	-	22	3105	c.2662G>A	c.(2662-2664)Gta>Ata	p.V888I	ITSN2_ENST00000406921.3_Missense_Mutation_p.V888I|ITSN2_ENST00000361999.3_Missense_Mutation_p.V861I	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	888					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATAGGTGATACAGATCCAGGG	0.338000													14	75					0	0	0.539581	0	0
TMEM151A	256472	broad.mit.edu	37	11	66062483	66062483	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:66062483C>A	ENST00000327259.4	+	2	910	c.766C>A	c.(766-768)Cgc>Agc	p.R256S		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	256						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						TCTGGAGGCGCGCGAGGGCAT	0.692000													8	13					6.40141e-05	7.50611e-05	0.387290	1	0
PLEKHG3	26030	broad.mit.edu	37	14	65194591	65194591	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:65194591G>T	ENST00000247226.7	+	2	550	c.242G>T	c.(241-243)cGg>cTg	p.R81L	PLEKHG3_ENST00000394691.1_Missense_Mutation_p.R81L	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	81					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TTCAACAGCCGGGCAGCGGCA	0.637000													7	35					2.0095e-06	2.53909e-06	0.248553	1	0
KRT23	25984	broad.mit.edu	37	17	39092648	39092648	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:39092648C>A	ENST00000209718.3	-	2	632	c.208G>T	c.(208-210)Gga>Tga	p.G70*	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Intron	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	70	Head.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TTCCCATTTCCGCCTAGTAGG	0.647000													20	143					4.72057e-08	6.46205e-08	0.667858	1	0
SEC24C	9632	broad.mit.edu	37	10	75506736	75506736	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:75506736C>T	ENST00000339365.2	+	3	308	c.146C>T	c.(145-147)cCa>cTa	p.P49L	SEC24C_ENST00000345254.4_Missense_Mutation_p.P49L|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000411652.2_5'UTR|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	49					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GGCCCAGTACCAGGCTATCAG	0.537000													8	45					0	0	0.307466	0	0
SPATA19	219938	broad.mit.edu	37	11	133714517	133714517	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:133714517G>T	ENST00000299140.3	-	3	208	c.154C>A	c.(154-156)Cgg>Agg	p.R52R	SPATA19_ENST00000532889.1_Silent_p.R52R	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	52					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		TTTATGCCCCGAGAAGCCTCT	0.507000													12	49					2.61681e-11	4.05567e-11	0.457914	1	0
GPRC5B	51704	broad.mit.edu	37	16	19871841	19871841	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:19871841G>T	ENST00000300571.2	-	4	1384	c.1193C>A	c.(1192-1194)aCa>aAa	p.T398K	GPRC5B_ENST00000535671.1_Intron|GPRC5B_ENST00000537135.1_Missense_Mutation_p.T424K|GPRC5B_ENST00000569847.1_Missense_Mutation_p.T398K|GPRC5B_ENST00000569479.1_Missense_Mutation_p.T398K	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	398										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GTGTCTTCCTGTGTGACTTGG	0.443000													15	38					2.4624e-09	3.54336e-09	0.575678	1	0
ANKS6	203286	broad.mit.edu	37	9	101546371	101546371	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:101546371C>A	ENST00000353234.4	-	4	1023	c.976G>T	c.(976-978)Ggg>Tgg	p.G326W	ANKS6_ENST00000375019.2_Missense_Mutation_p.G25W|ANKS6_ENST00000375018.1_Missense_Mutation_p.G326W|ANKS6_ENST00000540940.1_Missense_Mutation_p.G131W			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	326										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GGCGTCGCCCCGTCCCCATTG	0.592000													10	72					3.07112e-06	3.8403e-06	0.387290	1	0
BAI3	577	broad.mit.edu	37	6	69703691	69703691	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:69703691T>C	ENST00000370598.1	+	11	2587	c.1766T>C	c.(1765-1767)aTg>aCg	p.M589T		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	589					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)				GGGCAGCGAATGCTGGCAGGT	0.418000													59	422					0	0	0.870114	0	0
DNAH9	1770	broad.mit.edu	37	17	11607519	11607519	+	Splice_Site	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:11607519G>T	ENST00000262442.3	+	25	5219		c.e25-1		DNAH9_ENST00000454412.2_Splice_Site	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCTGCCACAGGTGGCCCTGA	0.507000													12	112					2.27111e-07	3.01639e-07	0.411799	1	0
C9orf135	138255	broad.mit.edu	37	9	72520885	72520885	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:72520885G>A	ENST00000377197.3	+	6	610	c.523G>A	c.(523-525)Gat>Aat	p.D175N	C9orf135_ENST00000527647.1_Silent_p.K155K|C9orf135_ENST00000466872.2_3'UTR	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	175						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						TCCCTGTCAAGATGATTATTC	0.328000													8	66					0	0	0.361761	0	0
ASTN1	460	broad.mit.edu	37	1	176837987	176837987	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:176837987C>A	ENST00000367654.2	-	22	3677	c.3664G>T	c.(3664-3666)Ggt>Tgt	p.G1222C	ASTN1_ENST00000367657.3_Missense_Mutation_p.G1214C|ASTN1_ENST00000424564.2_Missense_Mutation_p.G1214C|ASTN1_ENST00000361833.2_Missense_Mutation_p.G1214C			O14525	ASTN1_HUMAN	astrotactin 1	1222					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TACCTGGGACCTAACTCATCC	0.443000													18	81					0.00074312	0.000827841	0.539581	1	0
CENPE	1062	broad.mit.edu	37	4	104082591	104082591	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:104082591T>A	ENST00000265148.3	-	19	1955	c.1866A>T	c.(1864-1866)caA>caT	p.Q622H	CENPE_ENST00000380026.3_Missense_Mutation_p.Q597H	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	622					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCTGCTTCATTTGTTTTGGGT	0.383000													18	73					0	0	0.575678	0	0
TMC3	342125	broad.mit.edu	37	15	81664974	81664974	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:81664974C>T	ENST00000558726.1	-	2	329	c.194G>A	c.(193-195)cGc>cAc	p.R65H	TMC3_ENST00000359440.5_Missense_Mutation_p.R65H			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	65						integral to membrane		p.R65H(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GGGTCTGCAGCGAATGTTTGC	0.458000													27	144					0	0	0.740014	0	0
PIEZO2	63895	broad.mit.edu	37	18	10672714	10672714	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:10672714G>T	ENST00000302079.6	-	50	7789	c.7790C>A	c.(7789-7791)cCa>cAa	p.P2597Q	PIEZO2_ENST00000285141.4_Missense_Mutation_p.P452Q|PIEZO2_ENST00000580640.1_Missense_Mutation_p.P2685Q|PIEZO2_ENST00000538948.1_Missense_Mutation_p.P617Q|PIEZO2_ENST00000503781.3_Missense_Mutation_p.P2660Q|PIEZO2_ENST00000581680.1_5'UTR			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2660						integral to membrane	ion channel activity										CCCCAGACTTGGGGGACTGAC	0.473000													11	145					0.000219431	0.000252395	0.457914	1	0
NUBPL	80224	broad.mit.edu	37	14	32257004	32257004	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:32257004G>T	ENST00000281081.7	+	7	577	c.532G>T	c.(532-534)Gac>Tac	p.D178Y	NUBPL_ENST00000418681.2_3'UTR|NUBPL_ENST00000536705.1_Missense_Mutation_p.D82Y	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	178					mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding			endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		GGGTCAACTGGACTACTTAGT	0.313000													13	84					1.02788e-11	1.61998e-11	0.520397	1	0
DACT1	51339	broad.mit.edu	37	14	59112126	59112126	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:59112126A>G	ENST00000395153.3	+	4	821	c.674A>G	c.(673-675)aAc>aGc	p.N225S	DACT1_ENST00000541264.2_5'UTR|DACT1_ENST00000395151.3_5'UTR|DACT1_ENST00000335867.4_Missense_Mutation_p.N262S|DACT1_ENST00000555845.1_3'UTR|DACT1_ENST00000556859.1_5'UTR	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	262					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GTGTCTAAAAACGGGAATGAT	0.493000													21	94					0	0	0.608945	0	0
FOXE1	2304	broad.mit.edu	37	9	100616405	100616405	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:100616405C>A	ENST00000375123.3	+	1	870	c.209C>A	c.(208-210)cCc>cAc	p.P70H		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	70					cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				GCGCACGCGCCCGAGCGCCGC	0.706000													4	16					0.00024832	0.000283873	0.150653	1	0
XIRP2	129446	broad.mit.edu	37	2	168114827	168114827	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:168114827G>T	ENST00000409728.1	+	11	1959	c.1870G>T	c.(1870-1872)Gga>Tga	p.G624*	XIRP2_ENST00000409605.1_Nonsense_Mutation_p.G369*|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409756.2_Nonsense_Mutation_p.G591*|XIRP2_ENST00000420519.1_Nonsense_Mutation_p.G624*|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409043.1_Nonsense_Mutation_p.G591*	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2706					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						AGAAAATAAAGGACAAAGACA	0.383000													18	79					1.55795e-14	2.61827e-14	0.608945	1	0
TPTE	7179	broad.mit.edu	37	21	10908884	10908884	+	Silent	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr21:10908884T>A	ENST00000298232.7	-	22	1774	c.1407A>T	c.(1405-1407)acA>acT	p.T469T	TPTE_ENST00000342420.5_Silent_p.T449T|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.T487T	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	487	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGTCATAGTATGTAGGAAGAT	0.274000													3	33					0	0	0.184627	0	0
PHKA2	5256	broad.mit.edu	37	X	19002050	19002050	+	Translation_Start_Site	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:19002050T>A	ENST00000379942.4	-	1	666	c.1A>T	c.(1-3)Atg>Ttg	p.M1L		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CTGCTCCGCATCTCCCCGAGG	0.701000													4	35					0	0	0.150653	0	0
SLC43A3	29015	broad.mit.edu	37	11	57185264	57185264	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:57185264G>A	ENST00000395123.2	-	8	932	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	SLC43A3_ENST00000529554.1_Missense_Mutation_p.R210W|SLC43A3_ENST00000352187.1_Missense_Mutation_p.R210W|SLC43A3_ENST00000533524.1_Missense_Mutation_p.R223W|SLC43A3_ENST00000395124.1_Missense_Mutation_p.R210W|SLC43A3_ENST00000528098.1_5'UTR	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	210					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						ATGTGCCCCCGGGGCATCAGG	0.562000													8	82					0	0	0.307466	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412441	105412441	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:105412441G>A	ENST00000333244.5	-	7	9466	c.9347C>T	c.(9346-9348)cCa>cTa	p.P3116L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3116						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)			CTTGGCTCCTGGGGCCTCGAC	0.622000													51	285					0	0	0.870114	0	0
CHD6	84181	broad.mit.edu	37	20	40117148	40117148	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:40117148T>C	ENST00000373233.3	-	13	1954	c.1777A>G	c.(1777-1779)Agc>Ggc	p.S593G	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	593	Helicase ATP-binding.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ATCACACAGCTCCAGTGAATC	0.458000													4	87					0	0	0.150653	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651242	121651242	+	Silent	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:121651242T>C	ENST00000393386.2	+	12	2553	c.2142T>C	c.(2140-2142)tcT>tcC	p.S714S	PTPRZ1_ENST00000449182.1_Silent_p.S714S	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	714					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CACATTATTCTACCTTTGCCT	0.478000													3	66					0	0	0.150653	0	0
IGLV8-61	28774	broad.mit.edu	37	22	22453567	22453567	+	RNA	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:22453567C>A	ENST00000390283.2	+	0	359																											CACGGGGGCCCAGGCAGATGA	0.488000													25	101					0.00127121	0.00140621	0.717897	1	0
RPL3L	6123	broad.mit.edu	37	16	1995913	1995913	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:1995913C>T	ENST00000268661.7	-	8	1064	c.970G>A	c.(970-972)Ggg>Agg	p.G324R		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	324					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						TTCACTTCCCCGTAGTGGGGG	0.597000													21	57					0	0	0.667858	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130815360	130815360	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:130815360G>A	ENST00000509018.1	-	16	2132	c.1927C>T	c.(1927-1929)Cat>Tat	p.H643Y	RAPGEF6_ENST00000507093.1_Missense_Mutation_p.H643Y|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.H643Y|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.H358Y|FNIP1_ENST00000514667.1_Missense_Mutation_p.H693Y|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.H643Y|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.H643Y|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.H643Y	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	643					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TGGATAGAATGGCGATTACTT	0.353000													36	83					0	0	0.840704	0	0
MYH8	4626	broad.mit.edu	37	17	10323502	10323502	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:10323502C>G	ENST00000403437.2	-	3	137	c.43G>C	c.(43-45)Gct>Cct	p.A15P	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	15	Myosin head-like.			A -> R (in Ref. 2; CAA86293).	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TAGGGAGCAGCTTCGCCAAAA	0.502000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				20	38					0	0	0.654019	0	0
SLC22A11	55867	broad.mit.edu	37	11	64336226	64336226	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:64336226C>A	ENST00000301891.4	+	8	1732	c.1358C>A	c.(1357-1359)gCt>gAt	p.A453D	SLC22A11_ENST00000377585.3_Intron|SLC22A11_ENST00000377581.3_Missense_Mutation_p.A453D	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	453					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	ATCTACAAGGCTGAACTCTTT	0.592000													20	122					1.42536e-11	2.23099e-11	0.681144	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79059272	79059272	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:79059272C>A	ENST00000388820.4	-	19	3191	c.2981G>T	c.(2980-2982)tGt>tTt	p.C994F	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	994	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGGCCACCGACAGAGTGGCAG	0.657000													3	67					6.4e-05	7.50611e-05	0.115264	1	0
LTBP1	4052	broad.mit.edu	37	2	33623606	33623606	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:33623606G>T	ENST00000404816.2	+	34	5513	c.5160G>T	c.(5158-5160)ctG>ctT	p.L1720L	LTBP1_ENST00000354476.3_Silent_p.L1721L|LTBP1_ENST00000418533.2_Silent_p.L1352L|LTBP1_ENST00000272273.5_Silent_p.L618L|LTBP1_ENST00000390003.4_Silent_p.L1395L|LTBP1_ENST00000402934.1_Silent_p.L1339L|LTBP1_ENST00000404525.1_Silent_p.L1341L|LTBP1_ENST00000407925.1_Silent_p.L1394L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1720					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ACAGTGACCTGGAGTGAAACA	0.448000													4	51					0.00024832	0.000283873	0.150653	1	0
ZNF12	7559	broad.mit.edu	37	7	6731119	6731119	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:6731119C>A	ENST00000405858.1	-	5	1995	c.1454G>T	c.(1453-1455)aGa>aTa	p.R485I	AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.R411I|ZNF12_ENST00000342651.5_Missense_Mutation_p.R447I	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	485					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TGTGTGCACTCTCTGATGTCT	0.398000													31	124					6.84511e-11	1.04046e-10	0.779181	1	0
CACNA1B	774	broad.mit.edu	37	9	141010081	141010081	+	Silent	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:141010081G>C	ENST00000277549.5	+	42	5878	c.3309G>C	c.(3307-3309)cgG>cgC	p.R1103R	CACNA1B_ENST00000371372.1_Silent_p.R1909R|CACNA1B_ENST00000371357.1_Silent_p.R1908R|CACNA1B_ENST00000277551.2_Silent_p.R1909R|CACNA1B_ENST00000371355.4_Silent_p.R1910R|CACNA1B_ENST00000371363.1_Silent_p.R1907R			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1909					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GAGGAGCCCGGGTTTTCCTTC	0.592000													15	95					0	0	0.479597	0	0
PROKR2	128674	broad.mit.edu	37	20	5294673	5294673	+	Missense_Mutation	SNP	C	C	T	rs138672528	by1000genomes	TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:5294673C>T	ENST00000546004.1	-	2	589	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	PROKR2_ENST00000217270.3_Missense_Mutation_p.V115M			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	115						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.V115M(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TGCCGTACCACGTAGTAGTCC	0.587000										HNSCC(71;0.22)			16	101					0	0	0.639603	0	0
FRMD4A	55691	broad.mit.edu	37	10	13708177	13708177	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:13708177T>A	ENST00000357447.2	-	18	1891	c.1523A>T	c.(1522-1524)cAg>cTg	p.Q508L	FRMD4A_ENST00000358621.4_Missense_Mutation_p.Q493L|FRMD4A_ENST00000378503.1_Missense_Mutation_p.Q508L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	508						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TTCAATCTCCTGCAGTTTCTT	0.517000													29	111					0	0	0.760397	0	0
ZNF354C	30832	broad.mit.edu	37	5	178506844	178506844	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:178506844A>T	ENST00000315475.6	+	5	1717	c.1411A>T	c.(1411-1413)Aat>Tat	p.N471Y		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		GTATCAGTGTAATCAGTGTGG	0.398000													12	44					0	0	0.457914	0	0
ILDR2	387597	broad.mit.edu	37	1	166896403	166896403	+	Silent	SNP	G	G	T	rs149710395		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:166896403G>T	ENST00000271417.3	-	7	950	c.895C>A	c.(895-897)Cgg>Agg	p.R299R	ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Silent_p.R240R|ILDR2_ENST00000529071.1_Silent_p.R280R|ILDR2_ENST00000469934.2_Silent_p.R299R|ILDR2_ENST00000526687.1_Silent_p.R191R|ILDR2_ENST00000525740.1_Silent_p.R172R	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	299						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GCCTGGATCCGGTAACCTTTG	0.448000													19	102					7.87624e-14	1.30867e-13	0.639603	1	0
NEB	4703	broad.mit.edu	37	2	152470990	152470990	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:152470990C>G	ENST00000397345.3	-	77	11603	c.11401G>C	c.(11401-11403)Gac>Cac	p.D3801H	NEB_ENST00000409198.1_Missense_Mutation_p.D3558H|NEB_ENST00000604864.1_Missense_Mutation_p.D3801H|NEB_ENST00000603639.1_Missense_Mutation_p.D3801H|NEB_ENST00000172853.10_Missense_Mutation_p.D3558H|NEB_ENST00000427231.2_Missense_Mutation_p.D3801H	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3801					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TACTCCCTGTCACTCTGGATC	0.537000													57	360					0	0	0.870114	0	0
PCYT2	5833	broad.mit.edu	37	17	79863984	79863984	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:79863984C>A	ENST00000538936.2	-	9	937	c.829G>T	c.(829-831)Gcc>Tcc	p.A277S	PCYT2_ENST00000571105.1_Missense_Mutation_p.A277S|PCYT2_ENST00000570388.1_Missense_Mutation_p.A199S|PCYT2_ENST00000538721.2_Missense_Mutation_p.A295S|PCYT2_ENST00000570391.1_Missense_Mutation_p.A245S|PCYT2_ENST00000331285.3_Missense_Mutation_p.A199S	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	277	Catalytic 2 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ACCCGGCAGGCCAGCACGCTC	0.637000													5	33					0.000602214	0.000674165	0.184627	1	0
EMR1	2015	broad.mit.edu	37	19	6921773	6921773	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:6921773T>G	ENST00000312053.4	+	14	1707	c.1670T>G	c.(1669-1671)gTg>gGg	p.V557G	EMR1_ENST00000381407.5_Missense_Mutation_p.V416G|EMR1_ENST00000450315.3_Missense_Mutation_p.V380G|EMR1_ENST00000250572.8_Missense_Mutation_p.V557G|EMR1_ENST00000381404.4_Missense_Mutation_p.V505G	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	557	GPS.|Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					AGCACTGATGTGAAGGGTGGA	0.438000													4	23					0	0	0.150653	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139775	142139775	+	RNA	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:142139775G>T	ENST00000390374.3	-	0	40																											GCCCATGGCAGGGTCAGGCCA	0.527000													28	89					6.68952e-21	1.26166e-20	0.864702	1	0
TRAV25	28658	broad.mit.edu	37	14	22580916	22580916	+	RNA	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:22580916A>G	ENST00000390454.2	+	0	335																											TGGAGAAGCAAAAAAGAACAG	0.483000													3	14					0	0	0.150653	0	0
CNGB3	54714	broad.mit.edu	37	8	87683233	87683233	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:87683233G>A	ENST00000320005.5	-	4	479	c.432C>T	c.(430-432)gcC>gcT	p.A144A		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	144					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCTTGTAGAGGGCTGTTCTTT	0.483000													14	424					0	0	0.520397	0	0
TAF1A	9015	broad.mit.edu	37	1	222734782	222734782	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:222734782C>A	ENST00000350027.4	-	10	1317	c.1164G>T	c.(1162-1164)tgG>tgT	p.W388C	TAF1A_ENST00000366890.1_Missense_Mutation_p.W274C|TAF1A_ENST00000391882.1_Missense_Mutation_p.W274C|TAF1A_ENST00000352967.4_Missense_Mutation_p.W388C	NM_001201536.1	NP_001188465.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	388					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		CACTTTTTGCCCAAAAGTAGC	0.403000													13	61					2.23348e-06	2.81691e-06	0.500413	1	0
FIS1	51024	broad.mit.edu	37	7	100888249	100888249	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:100888249C>G	ENST00000223136.4	-	1	117	c.37G>C	c.(37-39)Gac>Cac	p.D13H	FIS1_ENST00000474120.1_Intron|FIS1_ENST00000442303.1_Missense_Mutation_p.D13H	NM_016068.2	NP_057152.2	Q9Y3D6	FIS1_HUMAN	fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae)	13					apoptosis|mitochondrial fission|peroxisome fission	integral to mitochondrial outer membrane|integral to peroxisomal membrane	protein binding			kidney(1)|large_intestine(2)|lung(1)	4	Lung NSC(181;0.168)|all_lung(186;0.215)					ACCAGCAGGTCCTCCACAGAC	0.667000													11	106					0	0	0.387290	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907848	164907848	+	Silent	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:164907848T>A	ENST00000475390.1	-	2	1214	c.771A>T	c.(769-771)ggA>ggT	p.G257G	SLITRK3_ENST00000241274.3_Silent_p.G257G			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	257	LRRCT 1.					integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AGGTAATGTCTCCCACCAGGG	0.483000										HNSCC(40;0.11)			25	139					0	0	0.729181	0	0
POSTN	10631	broad.mit.edu	37	13	38160341	38160341	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr13:38160341T>C	ENST00000379747.4	-	7	947	c.830A>G	c.(829-831)gAg>gGg	p.E277G	POSTN_ENST00000379743.4_Missense_Mutation_p.E277G|POSTN_ENST00000379749.4_Missense_Mutation_p.E277G|POSTN_ENST00000379742.4_Missense_Mutation_p.E277G|POSTN_ENST00000541481.1_Missense_Mutation_p.E277G|POSTN_ENST00000541179.1_Missense_Mutation_p.E277G	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	277	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTCAAAAGCCTCATTGGTGGG	0.478000													10	64					0	0	0.435327	0	0
SAMD5	389432	broad.mit.edu	37	6	147830478	147830478	+	Silent	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:147830478C>G	ENST00000367474.1	+	1	416	c.414C>G	c.(412-414)ctC>ctG	p.L138L		NM_001030060.2	NP_001025231.1	Q5TGI4	SAMD5_HUMAN	sterile alpha motif domain containing 5	138													Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.55e-10)|GBM - Glioblastoma multiforme(68;0.112)		GGGATAAGCTCGTCCGTGACG	0.697000													3	12					0	0	0.150653	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4966382	4966382	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrY:4966382G>C	ENST00000333703.4	+	5	1243	c.730G>C	c.(730-732)Gat>Cat	p.D244H	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.D255H|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.D255H	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	255	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AAAGGTTGAAGATGGTGGCTT	0.398000													46	67					0	0	0.870114	0	0
URB2	9816	broad.mit.edu	37	1	229772632	229772632	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:229772632G>C	ENST00000258243.2	+	4	2408	c.2272G>C	c.(2272-2274)Gat>Cat	p.D758H		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	758						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GTGTCCAGATGATGTGGGATA	0.458000													18	79					0	0	0.608945	0	0
SH2D4B	387694	broad.mit.edu	37	10	82403798	82403798	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:82403798G>T	ENST00000470604.2	+	8	1253	c.1253G>T	c.(1252-1254)gGa>gTa	p.G418V	SH2D4B_ENST00000313455.4_Silent_p.R297R|SH2D4B_ENST00000372150.3_3'UTR|SH2D4B_ENST00000339284.2_Silent_p.R345R			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	418										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			GAACCCTGCGGACAGAGGGAC	0.378000													12	90					4.14922e-12	6.63616e-12	0.500413	1	0
TRIM31	11074	broad.mit.edu	37	6	30080255	30080255	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:30080255C>T	ENST00000376734.3	-	2	453	c.328G>A	c.(328-330)Ggg>Agg	p.G110R	TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Missense_Mutation_p.G110R	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	110						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						AGGAACTTCCCATCATCCTCG	0.478000													15	63					0	0	0.520397	0	0
N4BP2	55728	broad.mit.edu	37	4	40122932	40122932	+	Silent	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:40122932A>G	ENST00000261435.6	+	9	3617	c.3201A>G	c.(3199-3201)ccA>ccG	p.P1067P		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1067						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AAGCAATTCCATATAGAGTAA	0.318000													5	48					0	0	0.184627	0	0
GIP	2695	broad.mit.edu	37	17	47041694	47041694	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:47041694C>A	ENST00000357424.2	-	3	335	c.235G>T	c.(235-237)Gcc>Tcc	p.A79S		NM_004123.2	NP_004114.1	P09681	GIP_HUMAN	gastric inhibitory polypeptide	79					energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity			lung(2)|skin(1)|stomach(1)	4						CCCTTTTGGGCCAGCAGCCAG	0.552000													37	161					1.51926e-22	2.91629e-22	0.870114	1	0
NPNT	255743	broad.mit.edu	37	4	106880217	106880217	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:106880217G>A	ENST00000379987.2	+	10	1495	c.1279G>A	c.(1279-1281)Gga>Aga	p.G427R	NPNT_ENST00000506666.1_Missense_Mutation_p.G428R|NPNT_ENST00000453617.2_Missense_Mutation_p.G444R|NPNT_ENST00000427316.2_Missense_Mutation_p.G457R|NPNT_ENST00000514622.1_Missense_Mutation_p.G398R|NPNT_ENST00000305572.8_Missense_Mutation_p.G398R	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	427	MAM.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TTTTGACCATGGACTTTGTGG	0.383000													12	85					0	0	0.479597	0	0
IRAK3	11213	broad.mit.edu	37	12	66639014	66639014	+	Missense_Mutation	SNP	G	G	T	rs140671957		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:66639014G>T	ENST00000261233.4	+	11	1707	c.1286G>T	c.(1285-1287)cGg>cTg	p.R429L	IRAK3_ENST00000457197.2_Missense_Mutation_p.R368L	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	429	Protein kinase.		R -> Q (may be associated with ASRT5).		interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GCTGCAACGCGGGCAAAGTTA	0.438000													20	148					3.73148e-12	5.97269e-12	0.717897	1	0
PODXL2	50512	broad.mit.edu	37	3	127379981	127379981	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:127379981G>T	ENST00000342480.6	+	3	1149	c.1110G>T	c.(1108-1110)agG>agT	p.R370S		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	370					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CTCAATCCAGGATACCCTGGG	0.577000													17	35					5.35267e-07	6.98707e-07	0.557998	1	0
TLR4	7099	broad.mit.edu	37	9	120466807	120466807	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:120466807C>A	ENST00000355622.6	+	1	158	c.57C>A	c.(55-57)tcC>tcA	p.S19S	TLR4_ENST00000394487.4_5'UTR|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	19					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CCTTCCTCTCCTGCGTGAGAC	0.587000													12	44					1.5739e-10	2.35912e-10	0.500413	1	0
TERT	7015	broad.mit.edu	37	5	1253849	1253849	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:1253849C>T	ENST00000310581.5	-	16	3450	c.3393G>A	c.(3391-3393)ctG>ctA	p.L1131L	TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Silent_p.L1068L	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	1131	CTE.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCCATCAGTCCAGGATGGTCT	0.697000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				16	36					0	0	0.539581	0	0
SSPO	23145	broad.mit.edu	37	7	149519190	149519190	+	RNA	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:149519190G>T	ENST00000378016.2	+	0	12994							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTCTCGCTCTGGGTCCTGCCC	0.721000													31	81					2.40579e-17	4.31906e-17	0.819951	1	0
TMPRSS5	80975	broad.mit.edu	37	11	113569708	113569708	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:113569708T>C	ENST00000299882.5	-	4	395	c.247A>G	c.(247-249)Acc>Gcc	p.T83A	TMPRSS5_ENST00000545579.1_Missense_Mutation_p.T74A|TMPRSS5_ENST00000544476.1_Missense_Mutation_p.T39A|TMPRSS5_ENST00000540540.1_5'UTR|TMPRSS5_ENST00000538955.1_Missense_Mutation_p.T39A|TMPRSS5_ENST00000544634.1_Missense_Mutation_p.T83A|TMPRSS5_ENST00000536856.1_5'UTR	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	83					proteolysis	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		TCCTGCAAGGTCCCGGAAATG	0.532000													6	20					0	0	0.278610	0	0
MSR1	4481	broad.mit.edu	37	8	16032810	16032810	+	Splice_Site	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:16032810C>G	ENST00000350896.3	-	3	301		c.e3-1		MSR1_ENST00000445506.2_Splice_Site|MSR1_ENST00000355282.2_Splice_Site|MSR1_ENST00000262101.5_Splice_Site|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000381998.4_Splice_Site	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1						cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TTTTTAGGATCTAATAAAACA	0.378000													8	35					0	0	0.307466	0	0
KCNT1	57582	broad.mit.edu	37	9	138660720	138660720	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:138660720C>T	ENST00000298480.5	+	15	1521	c.1447C>T	c.(1447-1449)Ccc>Tcc	p.P483S	KCNT1_ENST00000488444.2_Missense_Mutation_p.P464S|KCNT1_ENST00000371757.2_Missense_Mutation_p.P483S|KCNT1_ENST00000486577.2_Missense_Mutation_p.P444S|KCNT1_ENST00000491806.2_Missense_Mutation_p.P450S|KCNT1_ENST00000490355.2_Missense_Mutation_p.P464S|KCNT1_ENST00000263604.3_Missense_Mutation_p.P464S|KCNT1_ENST00000487664.1_Missense_Mutation_p.P438S			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	483						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GGACTTCGCCCCCAACTGCCC	0.622000													12	62					0	0	0.457914	0	0
TNFRSF8	943	broad.mit.edu	37	1	12183826	12183826	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:12183826C>A	ENST00000263932.2	+	10	1317	c.1095C>A	c.(1093-1095)ccC>ccA	p.P365P	TNFRSF8_ENST00000417814.2_Silent_p.P254P	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	365	Pro/Ser/Thr-rich.				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		AGACGCTGCCCATCCCAACCA	0.642000													3	14					0.00024832	0.000283873	0.150653	1	0
ITGA8	8516	broad.mit.edu	37	10	15713619	15713619	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:15713619G>A	ENST00000378076.3	-	8	1183	c.830C>T	c.(829-831)aCt>aTt	p.T277I		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	277					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AGAATCCCCAGTAAACTCCCC	0.348000													11	42					0	0	0.479597	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769261	31769261	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:31769261C>A	ENST00000240587.4	-	2	1765	c.1438G>T	c.(1438-1440)Gtc>Ttc	p.V480F		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	480					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCGTCAGTGACCGCTTTCTCC	0.488000													112	246					4.92486e-47	1.03121e-46	0.870114	1	0
TMEM132D	121256	broad.mit.edu	37	12	129566310	129566310	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:129566310G>T	ENST00000422113.2	-	7	2243	c.1917C>A	c.(1915-1917)acC>acA	p.T639T	TMEM132D_ENST00000389441.4_Silent_p.T177T	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	639						integral to membrane		p.T639T(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)		TTACCTGAATGGTGGTCATCC	0.493000													4	51					0.150653	0.154185	0.150653	1	0
DBH	1621	broad.mit.edu	37	9	136501519	136501519	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:136501519G>T	ENST00000393056.2	+	1	38	c.26G>T	c.(25-27)aGc>aTc	p.S9I		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	9					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CGCTGGGCCAGCCTGCCCGGC	0.677000													18	79					1.42536e-11	2.23099e-11	0.681144	1	0
TRGV2	6974	broad.mit.edu	37	7	38402618	38402618	+	RNA	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:38402618G>T	ENST00000426402.2	-	0	390																											AGGAGTCATAGTACTGAAGAC	0.478000													5	91					1.06961e-07	1.4497e-07	0.278610	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84700170	84700170	+	Silent	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:84700170T>C	ENST00000286744.5	+	28	4964	c.4740T>C	c.(4738-4740)tgT>tgC	p.C1580C	ADAMTSL3_ENST00000567476.1_Silent_p.C1580C	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1580						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACTCCAACTGTGATGACAGAA	0.512000													42	214					0	0	0.847076	0	0
HMCN1	83872	broad.mit.edu	37	1	186057401	186057401	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:186057401G>T	ENST00000271588.4	+	62	9799	c.9570G>T	c.(9568-9570)aaG>aaT	p.K3190N	HMCN1_ENST00000367492.2_Missense_Mutation_p.K3190N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3190	Ig-like C2-type 30.				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						AGAACCACAAGCGCATAGGTA	0.413000													11	63					6.31663e-08	8.61244e-08	0.479597	1	0
FRAS1	80144	broad.mit.edu	37	4	79229352	79229352	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:79229352G>T	ENST00000264895.6	+	15	2107	c.1667G>T	c.(1666-1668)gGc>gTc	p.G556V	FRAS1_ENST00000264899.6_Missense_Mutation_p.G556V|FRAS1_ENST00000325942.6_Missense_Mutation_p.G556V	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	556					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AACAGGCAGGGCACCTGTAGC	0.522000													7	32					0.000442599	0.000499293	0.335167	1	0
IGHG1	3500	broad.mit.edu	37	14	106207966	106207966	+	RNA	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:106207966G>T	ENST00000390548.2	-	0	836																											AGTCCAGCACGGGAGGCGTGG	0.597000													41	210					2.18419e-29	4.44199e-29	0.870114	1	0
ZNF366	167465	broad.mit.edu	37	5	71756921	71756921	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:71756921C>A	ENST00000318442.5	-	2	893	c.403G>T	c.(403-405)Ggc>Tgc	p.G135C		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		AATTGGAAGCCCACGTTGCAC	0.607000													54	180					3.57465e-26	7.11462e-26	0.870114	1	0
FAM46D	169966	broad.mit.edu	37	X	79698950	79698950	+	Silent	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:79698950A>G	ENST00000538312.1	+	5	1246	c.912A>G	c.(910-912)ggA>ggG	p.G304G	FAM46D_ENST00000308293.5_Silent_p.G304G	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	304										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						CCTTGCATGGAGTTGTGAATG	0.383000													17	41					0	0	0.624587	0	0
DRC1	92749	broad.mit.edu	37	2	26678072	26678072	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:26678072G>C	ENST00000288710.2	+	16	2211	c.2137G>C	c.(2137-2139)Gcg>Ccg	p.A713P		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		AGAGCTGCAGGCGCTACTGCA	0.607000													7	102					0	0	0.248553	0	0
COL5A2	1290	broad.mit.edu	37	2	189904155	189904155	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:189904155C>A	ENST00000374866.3	-	51	4042	c.3768G>T	c.(3766-3768)gcG>gcT	p.A1256A		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1256					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.A1256A(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CATCAGGAGCCGCCTGATCTT	0.527000													5	24					0.000602214	0.000674165	0.184627	1	0
GDA	9615	broad.mit.edu	37	9	74764569	74764569	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:74764569C>A	ENST00000358399.3	+	1	187	c.94C>A	c.(94-96)Cac>Aac	p.H32N	GDA_ENST00000376986.1_5'UTR|GDA_ENST00000376989.3_Missense_Mutation_p.H7N|GDA_ENST00000238018.4_Missense_Mutation_p.H32N|GDA_ENST00000545168.1_Intron	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	32					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GCTGCGGGATCACCTCCTCGG	0.672000													5	25					3.59834e-05	4.28791e-05	0.217242	1	0
LCLAT1	253558	broad.mit.edu	37	2	30790929	30790929	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:30790929A>T	ENST00000309052.4	+	6	838	c.629A>T	c.(628-630)aAc>aTc	p.N210I	LCLAT1_ENST00000319406.4_Missense_Mutation_p.N210I|LCLAT1_ENST00000359433.1_Missense_Mutation_p.N210I|LCLAT1_ENST00000540623.1_Missense_Mutation_p.N172I|LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000379509.3_Missense_Mutation_p.N172I	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	210					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						TGTTTAGAAAACAGCAAGTCT	0.303000													9	31					0	0	0.387290	0	0
TRBV11-1	28582	broad.mit.edu	37	7	142223846	142223846	+	RNA	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:142223846G>A	ENST00000390367.3	-	0	337																											AGAGATACATGGCCGAGTCCC	0.527000													9	232					0	0	0.387290	0	0
TTC3	7267	broad.mit.edu	37	21	38524265	38524265	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr21:38524265A>C	ENST00000399017.2	+	26	5096	c.2349A>C	c.(2347-2349)ttA>ttC	p.L783F	TTC3_ENST00000355666.1_Missense_Mutation_p.L783F|TTC3_ENST00000354749.2_Missense_Mutation_p.L783F|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Missense_Mutation_p.L473F	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	783					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CAAAAAAGTTAGCACAAGAAA	0.333000													3	63					0	0	0.115264	0	0
LAMB1	3912	broad.mit.edu	37	7	107626512	107626512	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:107626512C>T	ENST00000393561.1	-	5	887	c.703G>A	c.(703-705)Gat>Aat	p.D235N	LAMB1_ENST00000393560.1_Missense_Mutation_p.D211N|LAMB1_ENST00000222399.6_Missense_Mutation_p.D211N			P07942	LAMB1_HUMAN	laminin, beta 1	211	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAAGCAGGATCTAAAGCACGA	0.308000													5	38					0	0	0.248553	0	0
BLMH	642	broad.mit.edu	37	17	28616430	28616430	+	Silent	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:28616430T>C	ENST00000261714.6	-	3	456	c.282A>G	c.(280-282)gaA>gaG	p.E94E	BLMH_ENST00000394819.3_Intron	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	94					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						TAAACTCAAATTCTTCAATAT	0.373000													3	39					0	0	0.150653	0	0
AEBP1	165	broad.mit.edu	37	7	44151897	44151897	+	Missense_Mutation	SNP	C	C	A	rs145884426	byFrequency	TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:44151897C>A	ENST00000223357.3	+	17	2499	c.2194C>A	c.(2194-2196)Cgc>Agc	p.R732S	AEBP1_ENST00000450684.2_Missense_Mutation_p.R307S	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	732	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CATCCCTGAACGCTACCTTTC	0.597000													13	58					0.000308642	0.000350295	0.479597	1	0
UGT3A2	167127	broad.mit.edu	37	5	36038112	36038112	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:36038112G>T	ENST00000282507.3	-	6	1183	c.1082C>A	c.(1081-1083)cCa>cAa	p.P361Q	UGT3A2_ENST00000513300.1_Missense_Mutation_p.P327Q|UGT3A2_ENST00000545528.1_Missense_Mutation_p.P59Q	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	361						integral to membrane	glucuronosyltransferase activity	p.P361Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACGGATGCTTGGGTGAGCTGT	0.507000													37	45					2.47872e-24	4.85802e-24	0.853193	1	0
PDZD8	118987	broad.mit.edu	37	10	119049723	119049723	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:119049723C>T	ENST00000334464.5	-	4	1474	c.1235G>A	c.(1234-1236)cGg>cAg	p.R412Q	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	412	PDZ.				intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TCGATCTCCCCGCTGAAGATC	0.433000													11	105					0	0	0.411799	0	0
DSCAML1	57453	broad.mit.edu	37	11	117302320	117302320	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:117302320G>T	ENST00000321322.6	-	31	5485	c.5484C>A	c.(5482-5484)acC>acA	p.T1828T	DSCAML1_ENST00000527706.1_Silent_p.T1558T	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1768					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGGAGCCCACGGTGCGCCAGT	0.642000													18	124					3.51602e-12	5.63221e-12	0.575678	1	0
CHKA	1119	broad.mit.edu	37	11	67832051	67832051	+	Silent	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:67832051T>C	ENST00000265689.4	-	10	1199	c.1173A>G	c.(1171-1173)gaA>gaG	p.E391E	CHKA_ENST00000356135.5_Silent_p.E373E	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	391					lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	TACTGAGGTTTTCAAAGTCAT	0.294000													4	52					0	0	0.184627	0	0
LAMA3	3909	broad.mit.edu	37	18	21269753	21269753	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:21269753G>T	ENST00000313654.9	+	1	347	c.106G>T	c.(106-108)Gct>Tct	p.A36S	LAMA3_ENST00000399516.3_Missense_Mutation_p.A36S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	36					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGGGCGACCGCTCGGGATCC	0.756000													6	2					0.00116845	0.00129323	0.217242	1	0
GLCCI1	113263	broad.mit.edu	37	7	8099726	8099726	+	Splice_Site	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:8099726G>T	ENST00000223145.5	+	5	1371	c.813_splice	c.e5-1	p.A272_splice	GLCCI1_ENST00000474269.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	272										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		TATCTCATAGGCTACTGGATC	0.373000													18	86					5.03518e-11	7.71635e-11	0.557998	1	0
PVRL1	5818	broad.mit.edu	37	11	119510596	119510596	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:119510596G>T	ENST00000341398.2	-	6	1129	c.1130C>A	c.(1129-1131)cCa>cAa	p.P377Q	RP11-196E1.3_ENST00000532153.1_RNA	NM_203285.1	NP_976030.1	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	0					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CGTCTCCGGTGGGCTCTTCTG	0.632000													8	68					3.86212e-05	4.5625e-05	0.361761	1	0
PRKCI	5584	broad.mit.edu	37	3	169981184	169981184	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:169981184G>T	ENST00000295797.4	+	4	636	c.331G>T	c.(331-333)Gaa>Taa	p.E111*		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	111	Regulatory domain.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TTGTGTACCAGAACGTCCTGG	0.323000													18	71					1.12875e-08	1.58319e-08	0.706142	1	0
TNRC6A	27327	broad.mit.edu	37	16	24800859	24800859	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:24800859G>T	ENST00000395799.3	+	6	1025	c.896G>T	c.(895-897)aGc>aTc	p.S299I	TNRC6A_ENST00000315183.7_Missense_Mutation_p.S299I	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	299	Ser-rich.|Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GTAGTTGGTAGCAGCAGCAAT	0.473000													9	31					0.000442599	0.000499293	0.335167	1	0
SCRT1	83482	broad.mit.edu	37	8	145557220	145557220	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:145557220G>T	ENST00000332135.4	-	2	785	c.674C>A	c.(673-675)cCg>cAg	p.P225Q		NM_031309.4	NP_112599.1	Q9BWW7	SCRT1_HUMAN	scratch family zinc finger 1	225						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|upper_aerodigestive_tract(1)	3	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GCCGCACGTCGGGCAGCGCCG	0.682000													21	36					3.6726e-16	6.45774e-16	0.667858	1	0
ATP13A2	23400	broad.mit.edu	37	1	17332023	17332023	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:17332023C>A	ENST00000452699.1	-	3	323	c.134G>T	c.(133-135)tGg>tTg	p.W45L	ATP13A2_ENST00000341676.5_Missense_Mutation_p.W45L|ATP13A2_ENST00000326735.8_Missense_Mutation_p.W45L	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	45					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GATGACCCTCCATGGACTGCC	0.657000													21	53					1.50538e-07	2.0203e-07	0.706142	1	0
KCNIP3	30818	broad.mit.edu	37	2	96040643	96040643	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:96040643C>T	ENST00000295225.5	+	4	489	c.354C>T	c.(352-354)taC>taT	p.Y118Y	KCNIP3_ENST00000468529.1_Silent_p.Y92Y|KCNIP3_ENST00000377181.2_3'UTR|KCNIP3_ENST00000360990.3_Intron	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	118	EF-hand 1; degenerate.				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		AACTCATTTACGCGCAGTTCT	0.652000													19	79					0	0	0.624587	0	0
KMT2C	58508	broad.mit.edu	37	7	151932993	151932993	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:151932993T>A	ENST00000355193.2	-	16	2896	c.2678A>T	c.(2677-2679)aAg>aTg	p.K893M	KMT2C_ENST00000262189.6_Missense_Mutation_p.K893M					lysine (K)-specific methyltransferase 2C																		AGGTCTCCGCTTTCCTGGAAA	0.498000													20	78					0	0	0.667858	0	0
IRX2	153572	broad.mit.edu	37	5	2749671	2749671	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:2749671C>A	ENST00000382611.6	-	2	728	c.480G>T	c.(478-480)caG>caT	p.Q160H	IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Missense_Mutation_p.Q160H	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	160						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		AGGTGGAGACCTGGGTGAGGG	0.597000													9	239					1.58986e-06	2.02508e-06	0.361761	1	0
RER1	11079	broad.mit.edu	37	1	2334561	2334561	+	Nonstop_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:2334561T>A	ENST00000605895.1	+	7	722	c.589T>A	c.(589-591)Tag>Aag	p.*197K	RER1_ENST00000378512.1_3'UTR|RER1_ENST00000378513.3_3'UTR|RER1_ENST00000488353.1_Nonstop_Mutation_p.*197K	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	0					retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		CTTCGCCAGCTAGAAGCGGGA	0.493000													6	115					0	0	0.248553	0	0
FIGN	55137	broad.mit.edu	37	2	164467887	164467887	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:164467887G>A	ENST00000333129.3	-	3	769	c.455C>T	c.(454-456)cCt>cTt	p.P152L	FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	152						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GGCTACCCCAGGAGAGCTTCC	0.512000													6	98					0	0	0.217242	0	0
HOXA2	3199	broad.mit.edu	37	7	27141898	27141898	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:27141898C>T	ENST00000222718.5	-	1	532	c.222G>A	c.(220-222)aaG>aaA	p.K74K		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	74						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						cggggcTCGGCTTGGGGCGGC	0.697000													5	6					0	0	0.184627	0	0
PLXNA2	5362	broad.mit.edu	37	1	208218075	208218075	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:208218075C>A	ENST00000367033.3	-	20	4409	c.3652G>T	c.(3652-3654)Ggg>Tgg	p.G1218W		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1218	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AACACCATCCCGCCCACGTGA	0.602000													5	42					0.00198382	0.00217109	0.248553	1	0
XIRP2	129446	broad.mit.edu	37	2	168105694	168105694	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:168105694C>A	ENST00000409195.1	+	9	7881	c.7792C>A	c.(7792-7794)Cta>Ata	p.L2598I	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L2376I|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L2598I|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2423					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						GGAGGTTTCCCTATCTGGAAT	0.413000													5	98					0.0293803	0.0306811	0.248553	1	0
KIF14	9928	broad.mit.edu	37	1	200559321	200559321	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:200559321C>A	ENST00000367350.4	-	17	3331	c.2893G>T	c.(2893-2895)Gct>Tct	p.A965S		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	965	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TCTTGCTGAGCCATTTCTTTT	0.353000													22	100					1.50039e-11	2.34308e-11	0.608945	1	0
LRBA	987	broad.mit.edu	37	4	151203601	151203601	+	Splice_Site	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:151203601C>A	ENST00000535741.1	-	55	8790		c.e55+1		LRBA_ENST00000357115.3_Splice_Site|LRBA_ENST00000510413.1_Splice_Site|LRBA_ENST00000503716.1_Splice_Site			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing							endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGGGCACTCACTCTTATGTTA	0.458000													13	92					6.49762e-13	1.05567e-12	0.539581	1	0
ADCYAP1R1	117	broad.mit.edu	37	7	31125001	31125001	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:31125001A>T	ENST00000304166.4	+	9	902	c.613A>T	c.(613-615)Atc>Ttc	p.I205F	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.I205F|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.I205F|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.I184F	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	205					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CTCCGTCTTCATCAAAGACTG	0.542000													28	165					0	0	0.760397	0	0
KCNH1	3756	broad.mit.edu	37	1	210970969	210970969	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:210970969G>T	ENST00000367007.4	-	9	1884	c.1715C>A	c.(1714-1716)aCg>aAg	p.T572K	KCNH1_ENST00000271751.4_Missense_Mutation_p.T599K	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	599					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.T599M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ACAGTGCACCGTCTGGAACTC	0.607000													19	73					1.50039e-11	2.34308e-11	0.608945	1	0
MTHFR	4524	broad.mit.edu	37	1	11860346	11860346	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:11860346C>T	ENST00000376592.1	-	3	637	c.509G>A	c.(508-510)gGa>gAa	p.G170E	MTHFR_ENST00000376590.3_Missense_Mutation_p.G170E|MTHFR_ENST00000376585.1_Missense_Mutation_p.G211E|MTHFR_ENST00000376583.3_Missense_Mutation_p.G211E			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	170					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GTTGAAGCCTCCCTCCTCCTC	0.547000													42	178					0	0	0.870114	0	0
SH2D7	646892	broad.mit.edu	37	15	78393505	78393505	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:78393505C>A	ENST00000328828.5	+	5	910	c.910C>A	c.(910-912)Cca>Aca	p.P304T	SH2D7_ENST00000409568.2_Missense_Mutation_p.P168T	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	304										endometrium(2)|kidney(2)|lung(3)	7						TGGGGTGAGCCCAGACCAGGG	0.617000													4	16					8.12818e-05	9.4606e-05	0.248553	1	0
PTK2B	2185	broad.mit.edu	37	8	27303405	27303405	+	Missense_Mutation	SNP	G	G	T	rs150074089		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:27303405G>T	ENST00000397501.1	+	29	3117	c.2309G>T	c.(2308-2310)cGg>cTg	p.R770L	PTK2B_ENST00000346049.5_Missense_Mutation_p.R770L|PTK2B_ENST00000338238.4_Intron|PTK2B_ENST00000544172.1_Missense_Mutation_p.R770L|PTK2B_ENST00000420218.2_Intron|PTK2B_ENST00000397497.4_Intron|PTK2B_ENST00000517339.1_Intron	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	770					apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CCTCTCCACCGGCACAATGTC	0.607000													21	103					3.28513e-13	5.3671e-13	0.667858	1	0
SLC5A12	159963	broad.mit.edu	37	11	26743036	26743036	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:26743036G>C	ENST00000396005.3	-	1	535	c.226C>G	c.(226-228)Cgc>Ggc	p.R76G	SLC5A12_ENST00000280467.6_Missense_Mutation_p.R76G	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	76					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GCCCCAAAGCGGTAGACTTCA	0.512000													11	33					0	0	0.387290	0	0
PCDH8	5100	broad.mit.edu	37	13	53419558	53419558	+	Splice_Site	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr13:53419558A>T	ENST00000377942.3	-	2	3043		c.e2+1		PCDH8_ENST00000338862.4_Splice_Site	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8						cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AAGAGTCCTCACCACTCTGCA	0.542000													11	42					0	0	0.387290	0	0
PDE11A	50940	broad.mit.edu	37	2	178565872	178565872	+	Missense_Mutation	SNP	C	C	A	rs144340688		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:178565872C>A	ENST00000286063.5	-	14	2538	c.2221G>T	c.(2221-2223)Gcc>Tcc	p.A741S	PDE11A_ENST00000449286.2_Missense_Mutation_p.A383S|PDE11A_ENST00000409504.1_Missense_Mutation_p.A383S|PDE11A_ENST00000389683.3_Missense_Mutation_p.A297S|PDE11A_ENST00000358450.4_Missense_Mutation_p.A491S|AC012499.1_ENST00000450227.1_RNA|AC012499.1_ENST00000412133.1_RNA|PDE11A_ENST00000497003.1_5'UTR	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	741	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			ATCATCACGGCGTGGTTGAAA	0.517000									Primary Pigmented Nodular Adrenocortical Disease, Familial				14	60					5.3912e-06	6.67235e-06	0.539581	1	0
CTCFL	140690	broad.mit.edu	37	20	56083792	56083792	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:56083792G>A	ENST00000429804.2	-	8	1954	c.1394C>T	c.(1393-1395)aCc>aTc	p.T465I	CTCFL_ENST00000422109.2_Intron|CTCFL_ENST00000243914.3_Missense_Mutation_p.T515I|CTCFL_ENST00000433949.2_Missense_Mutation_p.T515I|CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000423479.2_Missense_Mutation_p.T515I|CTCFL_ENST00000539382.1_Missense_Mutation_p.T310I|CTCFL_ENST00000432255.2_Missense_Mutation_p.T371I|CTCFL_ENST00000502686.2_Missense_Mutation_p.T253I|CTCFL_ENST00000422869.2_Missense_Mutation_p.T515I|CTCFL_ENST00000371196.2_Missense_Mutation_p.T515I	NM_001269046.1	NP_001255975.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	515					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			AGAAAGGCAGGTGAATGGTTT	0.443000													12	78					0	0	0.479597	0	0
PCDH15	65217	broad.mit.edu	37	10	56077081	56077081	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:56077081C>A	ENST00000373965.2	-	8	1220	c.826G>T	c.(826-828)Gat>Tat	p.D276Y	PCDH15_ENST00000373957.3_Missense_Mutation_p.D254Y|PCDH15_ENST00000320301.6_Missense_Mutation_p.D276Y|PCDH15_ENST00000373955.1_Missense_Mutation_p.D276Y|PCDH15_ENST00000437009.1_Missense_Mutation_p.D276Y|PCDH15_ENST00000361849.3_Missense_Mutation_p.D276Y|PCDH15_ENST00000395430.1_Missense_Mutation_p.D276Y|PCDH15_ENST00000395438.1_Missense_Mutation_p.D276Y|PCDH15_ENST00000414778.1_Missense_Mutation_p.D281Y|PCDH15_ENST00000395442.1_Missense_Mutation_p.D276Y|PCDH15_ENST00000395433.1_Missense_Mutation_p.D254Y|PCDH15_ENST00000395440.1_Missense_Mutation_p.D276Y|PCDH15_ENST00000395445.1_Missense_Mutation_p.D276Y|PCDH15_ENST00000395432.2_Missense_Mutation_p.D239Y|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.D276Y	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	276					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGACGGCAATCACGAGTGTTT	0.448000										HNSCC(58;0.16)			30	114					2.61193e-14	4.37525e-14	0.740014	1	0
KIAA0195	9772	broad.mit.edu	37	17	73490977	73490977	+	Splice_Site	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:73490977G>T	ENST00000314256.7	+	20	2984	c.2589_splice	c.e20-1	p.V864_splice	KIAA0195_ENST00000579208.1_Splice_Site_p.V515_splice|KIAA0195_ENST00000375248.5_Splice_Site_p.V874_splice	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	864					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTTTCACAGGTGTTTGCAGA	0.577000													32	186					6.00712e-18	1.09085e-17	0.760397	1	0
DLG5	9231	broad.mit.edu	37	10	79581162	79581162	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:79581162C>A	ENST00000372391.2	-	15	3085	c.3080G>T	c.(3079-3081)aGg>aTg	p.R1027M	DLG5_ENST00000372388.2_Intron|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1027	Pro-rich.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AGTCTCCAGCCTGTGCTGGAA	0.667000													7	45					8.12818e-05	9.4606e-05	0.248553	1	0
GCLC	2729	broad.mit.edu	37	6	53409418	53409418	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:53409418G>T	ENST00000229416.6	-	1	509	c.26C>A	c.(25-27)cCg>cAg	p.P9Q	GCLC_ENST00000514004.1_Missense_Mutation_p.P9Q	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	9					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	CCAGCTCAGCGGCGAGCCCTG	0.706000													3	17					2.56e-06	3.22277e-06	0.150653	1	0
CD93	22918	broad.mit.edu	37	20	23065106	23065106	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:23065106C>G	ENST00000246006.4	-	1	1871	c.1724G>C	c.(1723-1725)gGc>gCc	p.G575A		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	575					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCCGTCAGTGCCATCGTTGTT	0.617000													7	112					0	0	0.307466	0	0
CHTOP	26097	broad.mit.edu	37	1	153614810	153614810	+	Missense_Mutation	SNP	G	G	T	rs144635323	byFrequency	TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:153614810G>T	ENST00000368686.1	+	2	199	c.191G>T	c.(190-192)cGa>cTa	p.R64L	CHTOP_ENST00000495554.1_Intron|CHTOP_ENST00000368694.3_Missense_Mutation_p.R103L|CHTOP_ENST00000368690.3_Missense_Mutation_p.R103L|CHTOP_ENST00000368687.1_Missense_Mutation_p.R78L|CHTOP_ENST00000403433.1_Missense_Mutation_p.R103L			Q9Y3Y2	CHTOP_HUMAN	chromatin target of PRMT1	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	protein binding|RNA binding			endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						ATCGGAGGACGAGGCCTACCC	0.602000													12	54					3.27435e-08	4.50938e-08	0.457914	1	0
CUBN	8029	broad.mit.edu	37	10	16918967	16918967	+	Missense_Mutation	SNP	G	G	T	rs143741363		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:16918967G>T	ENST00000377833.4	-	57	9100	c.9035C>A	c.(9034-9036)cCg>cAg	p.P3012Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3012	CUB 22.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGCAGAACCGGCCCAGCGAT	0.483000													10	125					7.93312e-07	1.02125e-06	0.457914	1	0
CXADR	1525	broad.mit.edu	37	21	18924097	18924097	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr21:18924097G>T	ENST00000284878.7	+	3	989	c.241G>T	c.(241-243)Gat>Tat	p.D81Y	CXADR_ENST00000306618.10_Missense_Mutation_p.D81Y|CXADR_ENST00000356275.6_Intron|CXADR_ENST00000400169.1_Missense_Mutation_p.D81Y|CXADR_ENST00000400166.1_Missense_Mutation_p.D81Y|CXADR_ENST00000400165.1_Missense_Mutation_p.D81Y	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	81	Ig-like C2-type 1.				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		CAAAATTTATGATGACTACTA	0.328000													4	32					0.00024832	0.000283873	0.150653	1	0
DPYSL4	10570	broad.mit.edu	37	10	134016261	134016261	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:134016261G>A	ENST00000338492.4	+	12	1557	c.1393G>A	c.(1393-1395)Gcg>Acg	p.A465T	DPYSL4_ENST00000368627.1_Intron|DPYSL4_ENST00000368629.1_Intron	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	465					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CACCCCGGGGGCGGGCCGCTT	0.627000													9	132					0	0	0.387290	0	0
CCDC33	80125	broad.mit.edu	37	15	74554862	74554862	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:74554862C>T	ENST00000321288.5	+	5	876	c.876C>T	c.(874-876)atC>atT	p.I292I	CCDC33_ENST00000398814.3_Silent_p.I89I			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	292	C2.						protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GAGCCCCTATCTGGGGGGACA	0.587000													6	36					0	0	0.248553	0	0
OR4A47	403253	broad.mit.edu	37	11	48510940	48510940	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:48510940C>A	ENST00000446524.1	+	1	672	c.596C>A	c.(595-597)gCc>gAc	p.A199D		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TTAGTGGTGGCCAATGGAGGA	0.443000													32	92					2.20474e-14	3.70222e-14	0.788014	1	0
USP28	57646	broad.mit.edu	37	11	113670093	113670093	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:113670093C>A	ENST00000003302.4	-	25	3171	c.3103G>T	c.(3103-3105)Gat>Tat	p.D1035Y	USP28_ENST00000260188.5_Missense_Mutation_p.D1003Y|USP28_ENST00000544967.1_Missense_Mutation_p.D711Y|USP28_ENST00000545540.1_Missense_Mutation_p.D878Y	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	1035					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GCAGAAGGATCTAGAAGTCTG	0.438000													4	75					0.00909568	0.00968067	0.150653	1	0
RCBTB1	55213	broad.mit.edu	37	13	50115948	50115948	+	Silent	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr13:50115948T>A	ENST00000378302.2	-	11	1448	c.1188A>T	c.(1186-1188)cgA>cgT	p.R396R	RCBTB1_ENST00000258646.3_Silent_p.R396R	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	396	BTB 1.				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GGAACATGGATCGAAAATGCT	0.343000													3	36					0	0	0.115264	0	0
CHD5	26038	broad.mit.edu	37	1	6209425	6209425	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:6209425C>A	ENST00000262450.3	-	8	1141	c.1042G>T	c.(1042-1044)Gtg>Ttg	p.V348L	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	348					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGCTGGCACACCTCACAGTAA	0.592000													12	128					6.72482e-11	1.02293e-10	0.479597	1	0
MS4A7	58475	broad.mit.edu	37	11	60157056	60157056	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:60157056G>T	ENST00000358246.1	+	4	591	c.398G>T	c.(397-399)aGt>aTt	p.S133I	MS4A7_ENST00000300184.3_Missense_Mutation_p.S178I|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000530234.2_Intron|MS4A7_ENST00000534016.1_Missense_Mutation_p.S133I	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	178						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						CTCCTGACCAGTGTCAGTTTA	0.408000													9	109					0.010729	0.0114132	0.387290	1	0
GRM3	2913	broad.mit.edu	37	7	86493604	86493604	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:86493604C>A	ENST00000439827.1	+	5	1677	c.1506C>A	c.(1504-1506)tgC>tgA	p.C502*	GRM3_ENST00000546348.1_Missense_Mutation_p.A450E|GRM3_ENST00000536043.1_Missense_Mutation_p.A730E|GRM3_ENST00000361669.2_Missense_Mutation_p.A858E|GRM3_ENST00000394720.2_Nonsense_Mutation_p.C500*			Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	0					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCAGCCTCTGCAAGCACGTAT	0.478000													41	201					2.43468e-25	4.81771e-25	0.870114	1	0
MYH3	4621	broad.mit.edu	37	17	10541152	10541152	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:10541152T>A	ENST00000583535.1	-	28	3917	c.3830A>T	c.(3829-3831)cAg>cTg	p.Q1277L	MYH3_ENST00000226209.7_Missense_Mutation_p.Q1277L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1277					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ACGAGACTTCTGTGTGGTCAG	0.552000													11	23					0	0	0.411799	0	0
CTNND2	1501	broad.mit.edu	37	5	11159692	11159692	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:11159692G>A	ENST00000304623.8	-	12	2344	c.2155C>T	c.(2155-2157)Cta>Tta	p.L719L	CTNND2_ENST00000458100.2_Silent_p.L286L|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Silent_p.L628L|CTNND2_ENST00000359640.2_Silent_p.L719L|CTNND2_ENST00000503622.1_Silent_p.L382L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	719					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.L719L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ACTGACCTTAGGCACCCGGTG	0.527000													29	244					0	0	0.769981	0	0
MALAT1	378938	broad.mit.edu	37	11	65266556	65266556	+	RNA	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:65266556G>T	ENST00000534336.1	+	0	1324					NR_002819.2																						TGCTGAGGGGGCAGGCGGAGC	0.463000													22	62					1.22574e-08	1.7157e-08	0.624587	1	0
SLC26A10	65012	broad.mit.edu	37	12	58017646	58017646	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:58017646G>T	ENST00000379218.2	+	8	1392	c.1081G>T	c.(1081-1083)Gtc>Ttc	p.V361F	SLC26A10_ENST00000320442.4_Missense_Mutation_p.V361F			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	361						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CTGCACAGTGGTCCTGTCGGT	0.567000													16	91					1.28384e-07	1.72524e-07	0.608945	1	0
VIP	7432	broad.mit.edu	37	6	153077290	153077290	+	Silent	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:153077290T>A	ENST00000367244.3	+	5	529	c.357T>A	c.(355-357)ccT>ccA	p.P119P	VIP_ENST00000367243.3_Silent_p.P118P	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	119					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		CAGAAGACCCTGTACCAGTCA	0.383000													6	130					0	0	0.278610	0	0
EXOC1	55763	broad.mit.edu	37	4	56726645	56726645	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:56726645A>T	ENST00000381295.2	+	3	541	c.193A>T	c.(193-195)Aaa>Taa	p.K65*	EXOC1_ENST00000349598.6_Nonsense_Mutation_p.K65*|EXOC1_ENST00000346134.7_Nonsense_Mutation_p.K65*	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	65					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)					AGATTTCTACAAAAGGCAGAT	0.423000													18	96					0	0	0.654019	0	0
TEX15	56154	broad.mit.edu	37	8	30701766	30701766	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:30701766G>T	ENST00000256246.2	-	1	4842	c.4768C>A	c.(4768-4770)Ctt>Att	p.L1590I		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1590										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTCTTCAGAAGAGTAGGGACT	0.378000													16	86					9.16793e-09	1.28765e-08	0.520397	1	0
KRR1	11103	broad.mit.edu	37	12	75895741	75895741	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:75895741C>A	ENST00000229214.4	-	8	894	c.871G>T	c.(871-873)Gca>Tca	p.A291S	GLIPR1_ENST00000266659.3_3'UTR|KRR1_ENST00000438169.2_Missense_Mutation_p.A234S	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	291	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TTCTGATTTGCCTTCAAAAAG	0.348000													34	134					2.45108e-15	4.20185e-15	0.840704	1	0
PCLO	27445	broad.mit.edu	37	7	82586091	82586091	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:82586091T>C	ENST00000423517.2	-	5	4515	c.4178A>G	c.(4177-4179)aAa>aGa	p.K1393R	PCLO_ENST00000333891.8_Missense_Mutation_p.K1393R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1324					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						AGAGTCCTTTTTGAGTCCCTT	0.418000													7	62					0	0	0.307466	0	0
CCDC129	223075	broad.mit.edu	37	7	31683167	31683167	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:31683167C>G	ENST00000319386.3	+	11	2732	c.1739C>G	c.(1738-1740)aCt>aGt	p.T580S	CCDC129_ENST00000409210.1_Missense_Mutation_p.T636S|CCDC129_ENST00000407970.3_Missense_Mutation_p.T728S|CCDC129_ENST00000451887.2_Missense_Mutation_p.T754S			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	728										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GCCTTGGGGACTGGTCCCAGA	0.507000													5	109					0	0	0.184627	0	0
KCNA3	3738	broad.mit.edu	37	1	111216475	111216475	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:111216475G>A	ENST00000369769.2	-	1	1180	c.957C>T	c.(955-957)agC>agT	p.S319S		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	319						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGTGGCTTTGCTAGGACAAG	0.537000													18	88					0	0	0.681144	0	0
RELN	5649	broad.mit.edu	37	7	103126781	103126781	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:103126781G>A	ENST00000428762.1	-	61	10005	c.9846C>T	c.(9844-9846)aaC>aaT	p.N3282N	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Silent_p.N3282N|RELN_ENST00000424685.2_Silent_p.N3282N	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3282					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGGTCTCCCAGTTTGCCTCGG	0.507000													34	186					0	0	0.870114	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060922	35060922	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:35060922C>A	ENST00000373913.3	+	3	1282	c.802C>A	c.(802-804)Cca>Aca	p.P268T	DLGAP4_ENST00000339266.5_Missense_Mutation_p.P268T|DLGAP4_ENST00000401952.2_Missense_Mutation_p.P268T|DLGAP4_ENST00000373907.2_Missense_Mutation_p.P268T			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	268	Poly-Pro.				cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GACTGCCCCACCACCCCCGCC	0.617000													32	54					3.86903e-22	7.37848e-22	0.769981	1	0
RALA	5898	broad.mit.edu	37	7	39730012	39730012	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:39730012A>G	ENST00000005257.2	+	3	526	c.146A>G	c.(145-147)gAc>gGc	p.D49G	RALA_ENST00000468201.1_Intron	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)	49					actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						ACCAAAGCAGACAGCTATCGG	0.378000													4	90					0	0	0.248553	0	0
AMER1	139285	broad.mit.edu	37	X	63406010	63406010	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:63406010C>A	ENST00000374869.3	-	3	2674	c.2402G>T	c.(2401-2403)tGt>tTt	p.C801F	AMER1_ENST00000403336.1_Missense_Mutation_p.C801F|AMER1_ENST00000330258.3_3'UTR					APC membrane recruitment protein 1									p.0?(67)|p.C801Y(1)									CCAGGTCCCACACGCCTGAGT	0.488000													16	29					1.01871e-10	1.53819e-10	0.575678	1	0
PRR16	51334	broad.mit.edu	37	5	119800199	119800199	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:119800199G>A	ENST00000407149.2	+	1	227	c.18G>A	c.(16-18)aaG>aaA	p.K6K	PRR16_ENST00000379551.2_5'UTR			Q569H4	PRR16_HUMAN	proline rich 16	6										endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CCAAGTCCAAGGGGAACCCCT	0.632000													3	11					0	0	0.184627	0	0
FAM83F	113828	broad.mit.edu	37	22	40415243	40415243	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:40415243G>T	ENST00000333407.5	+	2	655	c.561G>T	c.(559-561)aaG>aaT	p.K187N	FAM83F_ENST00000473717.1_3'UTR	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	187										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CTGCCTGTAAGCGCCGGGTCC	0.537000													16	165					4.7546e-09	6.75654e-09	0.500413	1	0
PPP2R1B	5519	broad.mit.edu	37	11	111625273	111625273	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:111625273T>A	ENST00000527614.1	-	8	1044	c.979A>T	c.(979-981)Att>Ttt	p.I327F	PPP2R1B_ENST00000393055.2_Missense_Mutation_p.I200F|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.I327F|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.I327F|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.I166F|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.I263F	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	327							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		CTATCTTCAATGGGCAAGTTC	0.323000													9	27					0	0	0.361761	0	0
COL6A3	1293	broad.mit.edu	37	2	238263550	238263550	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:238263550C>A	ENST00000295550.4	-	24	7071	c.6619G>T	c.(6619-6621)Gga>Tga	p.G2207*	COL6A3_ENST00000472056.1_Nonsense_Mutation_p.G1600*|COL6A3_ENST00000347401.3_Nonsense_Mutation_p.G2006*|COL6A3_ENST00000353578.4_Nonsense_Mutation_p.G2001*|COL6A3_ENST00000346358.4_Nonsense_Mutation_p.G2007*|COL6A3_ENST00000409809.1_Nonsense_Mutation_p.G2001*	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2207	Collagen-like 3.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACCTTAGCTCCGGGGGGTCCC	0.597000													4	36					0.000602214	0.000674165	0.184627	1	0
ASTN1	460	broad.mit.edu	37	1	176903303	176903303	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:176903303C>A	ENST00000367654.2	-	16	2693	c.2680G>T	c.(2680-2682)Gaa>Taa	p.E894*	ASTN1_ENST00000367657.3_Nonsense_Mutation_p.E886*|ASTN1_ENST00000424564.2_Nonsense_Mutation_p.E886*|ASTN1_ENST00000361833.2_Nonsense_Mutation_p.E886*			O14525	ASTN1_HUMAN	astrotactin 1	894					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTGATGTCTTCATACTCCAGC	0.483000													18	85					9.57634e-11	1.4481e-10	0.654019	1	0
EIF4G1	1981	broad.mit.edu	37	3	184049387	184049387	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:184049387G>T	ENST00000342981.4	+	29	4805	c.4391G>T	c.(4390-4392)tGg>tTg	p.W1464L	EIF4G1_ENST00000319274.6_Missense_Mutation_p.W1463L|EIF4G1_ENST00000346169.2_Missense_Mutation_p.W1463L|EIF4G1_ENST00000424196.1_Missense_Mutation_p.W1470L|EIF4G1_ENST00000411531.1_Missense_Mutation_p.W1424L|EIF4G1_ENST00000427845.1_Missense_Mutation_p.W1377L|EIF4G1_ENST00000435046.2_Missense_Mutation_p.W1267L|EIF4G1_ENST00000392537.2_Missense_Mutation_p.W1376L|EIF4G1_ENST00000350481.5_Missense_Mutation_p.W1299L|EIF4G1_ENST00000414031.1_Missense_Mutation_p.W1423L|EIF4G1_ENST00000434061.2_Missense_Mutation_p.W1268L|EIF4G1_ENST00000441154.1_Missense_Mutation_p.W1300L|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000352767.3_Missense_Mutation_p.W1470L|EIF4G1_ENST00000382330.3_Missense_Mutation_p.W1470L	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1463	EIF4A-binding.|W2.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGTTCGACTGGATAGAGGTA	0.562000													17	123					7.21436e-19	1.33009e-18	0.575678	1	0
KIAA1804	84451	broad.mit.edu	37	1	233514980	233514980	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:233514980A>T	ENST00000366624.3	+	9	2489	c.2228A>T	c.(2227-2229)cAt>cTt	p.H743L	MLK4_ENST00000366622.1_Missense_Mutation_p.H189L	NM_032435.2	NP_115811.2																					AGAGAGCTTCATAAAGCACAG	0.557000													12	77					0	0	0.500413	0	0
IFNA6	3443	broad.mit.edu	37	9	21350588	21350588	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:21350588C>A	ENST00000380210.1	-	1	789	c.299G>T	c.(298-300)tGg>tTg	p.W100L		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	100					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CCTCTCATCCCAAGCAACAGA	0.517000													12	108					9.31168e-06	1.14417e-05	0.435327	1	0
FLG	2312	broad.mit.edu	37	1	152284033	152284033	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:152284033C>A	ENST00000368799.1	-	3	3364	c.3329G>T	c.(3328-3330)aGg>aTg	p.R1110M	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1110	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACGTCCAGACCTTCCCCCTGA	0.577000									Ichthyosis				38	570					3.05275e-18	5.57813e-18	0.864702	1	0
COL24A1	255631	broad.mit.edu	37	1	86306905	86306905	+	Splice_Site	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:86306905T>A	ENST00000370571.2	-	42	3993	c.3627_splice	c.e42+1	p.P1209_splice	COL24A1_ENST00000436319.1_Splice_Site_p.P1209_splice	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1209	Collagen-like 13.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AAAGACCTACTGGTTCACCTC	0.328000													7	35					0	0	0.387290	0	0
PLCE1	51196	broad.mit.edu	37	10	96028741	96028741	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:96028741G>A	ENST00000260766.3	+	17	4971	c.4337G>A	c.(4336-4338)gGg>gAg	p.G1446E	PLCE1_ENST00000371385.3_Missense_Mutation_p.G1138E|PLCE1_ENST00000371380.2_Missense_Mutation_p.G1446E|PLCE1_ENST00000371375.1_Missense_Mutation_p.G1138E	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1446	PI-PLC X-box.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GGAGACGATGGGATGCCCATC	0.458000													6	80					0	0	0.387290	0	0
CGNL1	84952	broad.mit.edu	37	15	57730401	57730401	+	Silent	SNP	G	G	T	rs143019005		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:57730401G>T	ENST00000281282.5	+	2	282	c.204G>T	c.(202-204)tcG>tcT	p.S68S		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	68	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CAGGCACATCGTTTTCTGAAA	0.493000													5	54					0.0215528	0.0226801	0.217242	1	0
ARID4A	5926	broad.mit.edu	37	14	58832776	58832776	+	Silent	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:58832776A>G	ENST00000355431.3	+	22	3724	c.3351A>G	c.(3349-3351)ctA>ctG	p.L1117L	ARID4A_ENST00000348476.3_Intron|ARID4A_ENST00000431317.2_Intron|ARID4A_ENST00000395168.3_Silent_p.L1117L	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1117					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTCCTGTCCTAGACAATTCAA	0.338000													21	276					0	0	0.654019	0	0
MUC16	94025	broad.mit.edu	37	19	9087990	9087990	+	Silent	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:9087990A>T	ENST00000397910.4	-	1	4028	c.3825T>A	c.(3823-3825)ccT>ccA	p.P1275P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1275	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						TGTAAGAGCCAGGTTTTACTA	0.483000													84	251					0	0	0.870114	0	0
SPP2	6694	broad.mit.edu	37	2	234975187	234975187	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:234975187G>T	ENST00000168148.3	+	5	543	c.455G>T	c.(454-456)gGg>gTg	p.G152V	SPP2_ENST00000373368.1_Missense_Mutation_p.G152V	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	152					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		ATGATTTTTGGGGACATGTTG	0.318000													16	80					3.28513e-13	5.3671e-13	0.667858	1	0
GRAMD1A	57655	broad.mit.edu	37	19	35504458	35504458	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:35504458G>A	ENST00000599564.1	+	10	1065	c.994G>A	c.(994-996)Gtg>Atg	p.V332M	GRAMD1A_ENST00000317991.5_Missense_Mutation_p.V245M|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.V238M|GRAMD1A_ENST00000504615.2_Missense_Mutation_p.V11M			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	245						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCCCAAGGAAGTGGGAGATGT	0.627000													19	56					0	0	0.693898	0	0
PLSCR1	5359	broad.mit.edu	37	3	146239733	146239733	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:146239733C>A	ENST00000342435.4	-	6	873	c.463G>T	c.(463-465)Ggg>Tgg	p.G155W	PLSCR1_ENST00000487389.1_Missense_Mutation_p.G148W|PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000448787.2_Missense_Mutation_p.G74W	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	155					phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						CTAGATGGCCCACAGCAATTT	0.403000													24	86					1.68575e-08	2.35478e-08	0.717897	1	0
KCTD1	284252	broad.mit.edu	37	18	24039635	24039635	+	Silent	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:24039635C>G	ENST00000417602.1	-	4	2387	c.2388G>C	c.(2386-2388)acG>acC	p.T796T	KCTD1_ENST00000317932.7_Silent_p.T188T|KCTD1_ENST00000408011.3_Silent_p.T188T|KCTD1_ENST00000579973.1_Silent_p.T188T|KCTD1_ENST00000580059.1_Silent_p.T188T	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	188					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)			TGATGACGTGCGTCGAGTCGT	0.473000													17	166					0	0	0.608945	0	0
FAT4	79633	broad.mit.edu	37	4	126240795	126240795	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:126240795G>T	ENST00000394329.3	+	1	3242	c.3229G>T	c.(3229-3231)Gtg>Ttg	p.V1077L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1077	Cadherin 10.				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						TGACAGAGCAGTGGAACCCCT	0.353000													12	179					3.27435e-08	4.50938e-08	0.457914	1	0
SERPINB13	5275	broad.mit.edu	37	18	61264450	61264450	+	Silent	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:61264450C>G	ENST00000344731.5	+	8	1131	c.1029C>G	c.(1027-1029)acC>acG	p.T343T	SERPINB13_ENST00000269489.5_Silent_p.T291T	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	343					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						AGGAAGGCACCGAGGCTGCAG	0.547000													3	27					0	0	0.115264	0	0
MOSPD3	64598	broad.mit.edu	37	7	100212489	100212489	+	Splice_Site	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:100212489G>T	ENST00000393950.2	+	4	793		c.e4-1		MOSPD3_ENST00000424091.2_Splice_Site|MOSPD3_ENST00000379527.2_Splice_Site|MOSPD3_ENST00000223054.4_Splice_Site	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3							integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TTGTTTCTCAGACCCCCGCCA	0.572000													16	63					8.28177e-16	1.44263e-15	0.557998	1	0
ABLIM2	84448	broad.mit.edu	37	4	8034409	8034409	+	Splice_Site	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:8034409T>A	ENST00000318888.4	-	11	1190		c.e11-2		ABLIM2_ENST00000505872.1_Intron|ABLIM2_ENST00000515079.1_Intron|ABLIM2_ENST00000361737.5_Splice_Site|ABLIM2_ENST00000341937.5_Intron|ABLIM2_ENST00000546334.1_Splice_Site|ABLIM2_ENST00000447017.2_Intron|ABLIM2_ENST00000514025.1_Splice_Site|ABLIM2_ENST00000361581.5_Intron|ABLIM2_ENST00000296372.8_Intron|ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000545242.1_Intron|ABLIM2_ENST00000428004.2_Splice_Site			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2						axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CTGAGGGGACTGTGGACACAA	0.612000													17	76					0	0	0.667858	0	0
SLC13A4	26266	broad.mit.edu	37	7	135406254	135406254	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:135406254G>A	ENST00000354042.4	-	2	806	c.117C>T	c.(115-117)taC>taT	p.Y39Y	AC091736.10_ENST00000378428.3_RNA	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	39						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CGATCAGCACGTAAGCACACG	0.607000													16	62					0	0	0.592651	0	0
ARID4A	5926	broad.mit.edu	37	14	58831101	58831101	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:58831101A>G	ENST00000355431.3	+	20	2667	c.2294A>G	c.(2293-2295)aAt>aGt	p.N765S	ARID4A_ENST00000348476.3_Missense_Mutation_p.N765S|ARID4A_ENST00000431317.2_Missense_Mutation_p.N765S|ARID4A_ENST00000395168.3_Missense_Mutation_p.N765S	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	765					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GTTGGAGAGAATGAACAAATA	0.343000													12	46					0	0	0.500413	0	0
DRD2	1813	broad.mit.edu	37	11	113281624	113281624	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:113281624C>A	ENST00000362072.3	-	8	1501	c.1157G>T	c.(1156-1158)tGg>tTg	p.W386L	DRD2_ENST00000355319.2_Missense_Mutation_p.W388L|DRD2_ENST00000544518.1_Missense_Mutation_p.W385L|DRD2_ENST00000538967.1_Missense_Mutation_p.W388L|DRD2_ENST00000542968.1_Missense_Mutation_p.W386L|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000346454.3_Missense_Mutation_p.W357L	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	386	Agonist binding (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GAAGGGCAGCCAGCAGATGAT	0.617000													14	86					5.3912e-06	6.67235e-06	0.539581	1	0
BAZ2B	29994	broad.mit.edu	37	2	160193566	160193566	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:160193566C>T	ENST00000392783.2	-	33	6178	c.5683G>A	c.(5683-5685)Ggg>Agg	p.G1895R	BAZ2B_ENST00000392782.1_Missense_Mutation_p.G1859R|BAZ2B_ENST00000355831.2_Missense_Mutation_p.G1861R|BAZ2B_ENST00000343439.5_Missense_Mutation_p.G1795R	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1895					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						ACCCTGAGCCCTGGAGCAATA	0.413000													20	137					0	0	0.681144	0	0
HIVEP3	59269	broad.mit.edu	37	1	42041255	42041255	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:42041255G>T	ENST00000372584.1	-	4	6181	c.5167C>A	c.(5167-5169)Cag>Aag	p.Q1723K	HIVEP3_ENST00000247584.5_Missense_Mutation_p.Q1723K|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Missense_Mutation_p.Q1723K|HIVEP3_ENST00000372583.1_Missense_Mutation_p.Q1723K	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1723					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)				TCCCCTCTCTGGGAGGCAGGA	0.557000													41	202					4.21674e-32	8.6441e-32	0.870114	1	0
EPHB4	2050	broad.mit.edu	37	7	100410595	100410595	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:100410595C>A	ENST00000358173.3	-	12	2360	c.1892G>T	c.(1891-1893)cGg>cTg	p.R631L	EPHB4_ENST00000360620.3_Missense_Mutation_p.R631L	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	631	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	p.R631Q(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GAGCCGCCCCCGGCACACCTC	0.642000													21	266					9.65021e-13	1.56416e-12	0.750413	1	0
ARHGAP32	9743	broad.mit.edu	37	11	128839825	128839825	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:128839825C>A	ENST00000310343.9	-	22	5240	c.5241G>T	c.(5239-5241)atG>atT	p.M1747I	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.M1398I|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.M1398I|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1747	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGTATTTTTCCATGTCCTCAA	0.537000													5	77					0.000602214	0.000674165	0.184627	1	0
OR4C11	219429	broad.mit.edu	37	11	55371073	55371073	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:55371073G>T	ENST00000302231.4	-	1	801	c.777C>A	c.(775-777)ccC>ccA	p.P259P		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						AAGTGGTCGGGGGGCGTGTAT	0.443000													17	81					6.21321e-17	1.10673e-16	0.639603	1	0
ATP5L	10632	broad.mit.edu	37	11	118272356	118272356	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:118272356G>T	ENST00000534438.1	-	1	254	c.27C>A	c.(25-27)cgC>cgA	p.R9R	ATP5L_ENST00000529770.1_3'UTR|ATP5L_ENST00000524422.1_5'UTR|ATP5L_ENST00000300688.3_5'UTR																							GCGGTTCGGGGCGACGGACTC	0.637000													5	39					5.9392e-07	7.72322e-07	0.217242	1	0
STRIP1	85369	broad.mit.edu	37	1	110594469	110594469	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:110594469G>C	ENST00000369795.3	+	20	2248	c.2226G>C	c.(2224-2226)aaG>aaC	p.K742N	STRIP1_ENST00000369796.1_Missense_Mutation_p.K647N	NM_033088.2	NP_149079.2			striatin interacting protein 1																		TCTACCAGAAGGTGCGGCATC	0.537000													16	95					0	0	0.592651	0	0
XKR7	343702	broad.mit.edu	37	20	30584860	30584860	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:30584860G>T	ENST00000217299.3	+	3	1514	c.1340G>T	c.(1339-1341)gGt>gTt	p.G447V		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	447						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCCATGCTGGGTCCCCAGGCA	0.607000													15	89					1.02788e-11	1.61998e-11	0.520397	1	0
ABCA13	154664	broad.mit.edu	37	7	48314243	48314243	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:48314243G>C	ENST00000435803.1	+	17	5004	c.4980G>C	c.(4978-4980)ttG>ttC	p.L1660F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1660					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGCAAGCTTTGAAGAAGGTAA	0.393000													18	106					0	0	0.557998	0	0
B3GALNT1	8706	broad.mit.edu	37	3	160804331	160804331	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:160804331G>A	ENST00000392781.2	-	8	959	c.212C>T	c.(211-213)tCa>tTa	p.S71L	B3GALNT1_ENST00000392779.2_Missense_Mutation_p.S71L|B3GALNT1_ENST00000473285.1_Missense_Mutation_p.S71L|B3GALNT1_ENST00000320474.4_Missense_Mutation_p.S71L|B3GALNT1_ENST00000488170.1_Missense_Mutation_p.S71L|B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000392780.1_Missense_Mutation_p.S71L	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	71					protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			AGAGCAGTTTGAATGCTCTCG	0.448000													9	66					0	0	0.335167	0	0
CTNNA2	1496	broad.mit.edu	37	2	80136766	80136766	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:80136766G>T	ENST00000466387.1	+	11	1623	c.899G>T	c.(898-900)cGg>cTg	p.R300L	CTNNA2_ENST00000541047.1_Missense_Mutation_p.R300L|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R300L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R334L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R300L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R300L			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	300					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCCAGGTTCCGGCCGTCCCTG	0.592000													23	100					1.66031e-10	2.47958e-10	0.667858	1	0
DYSF	8291	broad.mit.edu	37	2	71753374	71753374	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:71753374G>T	ENST00000258104.3	+	12	1355	c.1078G>T	c.(1078-1080)Gac>Tac	p.D360Y	DYSF_ENST00000409366.1_Missense_Mutation_p.D361Y|DYSF_ENST00000409651.1_Missense_Mutation_p.D392Y|DYSF_ENST00000409582.3_Missense_Mutation_p.D391Y|DYSF_ENST00000410020.3_Missense_Mutation_p.D392Y|DYSF_ENST00000429174.2_Missense_Mutation_p.D360Y|DYSF_ENST00000394120.2_Missense_Mutation_p.D361Y|DYSF_ENST00000410041.1_Missense_Mutation_p.D392Y|DYSF_ENST00000409762.1_Missense_Mutation_p.D391Y|DYSF_ENST00000409744.1_Missense_Mutation_p.D361Y|DYSF_ENST00000413539.2_Missense_Mutation_p.D391Y	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	360						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCCCTCTGAAGACAAGGAGGA	0.532000													16	214					0.00152264	0.00168162	0.592651	1	0
PDE10A	10846	broad.mit.edu	37	6	165756954	165756954	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:165756954G>T	ENST00000366882.1	-	20	2147	c.1993C>A	c.(1993-1995)Ctt>Att	p.L665I	PDE10A_ENST00000539869.2_Missense_Mutation_p.L675I|PDE10A_ENST00000354448.4_Missense_Mutation_p.L665I			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	665					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	ACAGAACAAAGGTCACAGGCA	0.388000													32	95					1.48734e-19	2.75951e-19	0.864702	1	0
HIP1	3092	broad.mit.edu	37	7	75221706	75221706	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:75221706C>A	ENST00000336926.6	-	3	337	c.311G>T	c.(310-312)cGa>cTa	p.R104L	HIP1_ENST00000434438.2_Missense_Mutation_p.R104L	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	104	ENTH.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GTGTCCATCTCGGAGGAGTTT	0.592000			T	PDGFRB	CMML								13	63					0.00185496	0.00204205	0.435327	1	0
PRSS1	5644	broad.mit.edu	37	7	142459770	142459770	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:142459770C>A	ENST00000486171.1	+	4	405	c.388C>A	c.(388-390)Cgt>Agt	p.R130S	PRSS1_ENST00000311737.7_Missense_Mutation_p.R116S			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	116	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GCTCTCCTCACGTGCAGTAAT	0.562000													93	246					1.79769e-65	3.79123e-65	0.870114	1	0
SLC4A5	57835	broad.mit.edu	37	2	74491383	74491383	+	Silent	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:74491383T>A	ENST00000394019.2	-	10	1003	c.606A>T	c.(604-606)ccA>ccT	p.P202P	SLC4A5_ENST00000377632.1_Silent_p.P202P|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Silent_p.P202P|SLC4A5_ENST00000358683.4_Silent_p.P138P|SLC4A5_ENST00000346834.4_Silent_p.P202P|SLC4A5_ENST00000423644.1_Silent_p.P202P|SLC4A5_ENST00000359484.4_Silent_p.P138P|SLC4A5_ENST00000357822.5_Silent_p.P202P|SLC4A5_ENST00000483195.1_5'UTR	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	202						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CCCGGAGCTCTGGCCGCAGGA	0.552000													18	47					0	0	0.557998	0	0
EEF1A2	1917	broad.mit.edu	37	20	62120437	62120437	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:62120437G>T	ENST00000217182.3	-	7	1263	c.1098C>A	c.(1096-1098)gcC>gcA	p.A366A	EEF1A2_ENST00000298049.7_Silent_p.A366A	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	366						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			AGGCGATGTGGGCTGTGTGGC	0.627000													19	70					3.6726e-16	6.45774e-16	0.667858	1	0
NALCN	259232	broad.mit.edu	37	13	101717820	101717820	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr13:101717820G>A	ENST00000251127.6	-	40	4621	c.4540C>T	c.(4540-4542)Cac>Tac	p.H1514Y		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1514						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAGCACATGTGCTTAAACAGG	0.607000													18	124					0	0	0.557998	0	0
ASXL3	80816	broad.mit.edu	37	18	31226244	31226244	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:31226244G>A	ENST00000269197.5	+	4	282	c.282G>A	c.(280-282)ttG>ttA	p.L94L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	94					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						ATGGCACGTTGGATTTAGTCT	0.373000													85	102					0	0	0.870114	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594476	140594476	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:140594476C>A	ENST00000341948.4	+	1	968	c.781C>A	c.(781-783)Ctg>Atg	p.L261M		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		261	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTAGGCTTCCTGGTTGTGAA	0.468000													57	121					3.8128e-34	7.91089e-34	0.870114	1	0
CBR1	873	broad.mit.edu	37	21	37444820	37444820	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr21:37444820C>T	ENST00000290349.6	+	3	649	c.474C>T	c.(472-474)ttC>ttT	p.F158F	CBR1_ENST00000530908.1_3'UTR|SETD4_ENST00000399201.1_Intron|CBR1_ENST00000399191.3_3'UTR|AP000688.14_ENST00000535199.1_RNA	NM_001757.2	NP_001748.1	P16152	CBR1_HUMAN	carbonyl reductase 1	158					drug metabolic process|vitamin K metabolic process	cytoplasm	15-hydroxyprostaglandin dehydrogenase (NADP+) activity|carbonyl reductase (NADPH) activity|prostaglandin-E2 9-reductase activity|protein binding			endometrium(2)|kidney(3)	5					Acetohexamide(DB00414)|Lubiprostone(DB01046)	AGCAGAAGTTCCGCAGTGAGA	0.527000													9	48					0	0	0.335167	0	0
NDUFB1	4707	broad.mit.edu	37	14	92583901	92583901	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:92583901T>A	ENST00000329559.3	-	2	361	c.222A>T	c.(220-222)ttA>ttT	p.L74F	NDUFB1_ENST00000553514.1_Missense_Mutation_p.L27F|NDUFB1_ENST00000555441.1_Missense_Mutation_p.L27F|NDUFB1_ENST00000605997.1_Missense_Mutation_p.L27F	NM_004545.3	NP_004536.2	O75438	NDUB1_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa	27					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)|lung(1)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.205)	NADH(DB00157)	TCTTTCTGTCTAAATAACATC	0.378000													12	68					0	0	0.435327	0	0
HIVEP2	3097	broad.mit.edu	37	6	143091719	143091719	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:143091719C>A	ENST00000367603.2	-	5	4899	c.4157G>T	c.(4156-4158)gGg>gTg	p.G1386V	HIVEP2_ENST00000012134.2_Missense_Mutation_p.G1386V|HIVEP2_ENST00000367604.1_Missense_Mutation_p.G1386V	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GAATCCTATCCCTTGCATGGC	0.512000													15	39					1.5739e-10	2.35912e-10	0.500413	1	0
TMBIM6	7009	broad.mit.edu	37	12	50152260	50152260	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:50152260G>A	ENST00000423828.1	+	6	932	c.604G>A	c.(604-606)Gga>Aga	p.G202R	TMBIM6_ENST00000552699.1_Missense_Mutation_p.G202R|TMBIM6_ENST00000547798.1_Missense_Mutation_p.G107R|TMBIM6_ENST00000549385.1_Missense_Mutation_p.G144R|TMBIM6_ENST00000395006.4_Missense_Mutation_p.G144R|TMBIM6_ENST00000267115.5_Missense_Mutation_p.G144R	NM_001098576.1	NP_001092046.1	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	144					apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus				lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						CCTCTTTCTGGGAGGTAAGTG	0.502000													11	47					0	0	0.411799	0	0
CDCA7L	55536	broad.mit.edu	37	7	21956432	21956432	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:21956432C>T	ENST00000406877.3	-	2	384	c.105G>A	c.(103-105)atG>atA	p.M35I	CDCA7L_ENST00000373934.4_Missense_Mutation_p.M35I|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_Start_Codon_SNP_p.M1I	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	35					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						AGAGGGTTTCCATGGGAACAT	0.463000													8	240					0	0	0.307466	0	0
PXDNL	137902	broad.mit.edu	37	8	52320934	52320934	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:52320934C>A	ENST00000356297.4	-	17	3350	c.3250G>T	c.(3250-3252)Gcg>Tcg	p.A1084S	PXDNL_ENST00000543296.1_Missense_Mutation_p.A1084S	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1084					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GAAAAGAGCGCTTTATGGAAC	0.507000													7	52					0.00307968	0.00335074	0.278610	1	0
PGS1	9489	broad.mit.edu	37	17	76399740	76399740	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:76399740G>T	ENST00000262764.6	+	7	998	c.972G>T	c.(970-972)caG>caT	p.Q324H	PGS1_ENST00000588281.1_3'UTR|PGS1_ENST00000329897.7_Missense_Mutation_p.Q189H	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	324					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			TGCATGCCCAGACCTTCCACA	0.577000													15	102					1.99824e-07	2.673e-07	0.520397	1	0
SLC10A2	6555	broad.mit.edu	37	13	103718366	103718366	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr13:103718366G>T	ENST00000245312.3	-	1	830	c.234C>A	c.(232-234)atC>atA	p.I78I		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	78					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGAGGGGCATGATTCCAAACT	0.527000													14	105					2.61681e-11	4.05567e-11	0.457914	1	0
TSHZ3	57616	broad.mit.edu	37	19	31769262	31769262	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:31769262C>T	ENST00000240587.4	-	2	1764	c.1437G>A	c.(1435-1437)gcG>gcA	p.A479A		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	479					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CGTCAGTGACCGCTTTCTCCT	0.493000													113	244					0	0	0.870114	0	0
CDH10	1008	broad.mit.edu	37	5	24487900	24487900	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:24487900A>T	ENST00000264463.4	-	12	2746	c.2239T>A	c.(2239-2241)Tct>Act	p.S747T	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	747					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GAACTCAGAGATTCAGCAATG	0.448000										HNSCC(23;0.051)			41	172					0	0	0.870114	0	0
PCDH10	57575	broad.mit.edu	37	4	134073204	134073204	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:134073204G>T	ENST00000264360.4	+	1	2735	c.1909G>T	c.(1909-1911)Gag>Tag	p.E637*		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	637	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCGCACCGGGGAGCTGCGCAC	0.682000													18	68					2.70639e-06	3.40289e-06	0.624587	1	0
CEP63	80254	broad.mit.edu	37	3	134250710	134250710	+	Silent	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:134250710A>G	ENST00000337090.3	+	4	419	c.246A>G	c.(244-246)gtA>gtG	p.V82V	CEP63_ENST00000383229.3_Silent_p.V82V|CEP63_ENST00000354446.3_Silent_p.V82V|CEP63_ENST00000332047.5_Silent_p.V82V|CEP63_ENST00000606977.1_Silent_p.V82V|CEP63_ENST00000504013.1_3'UTR|CEP63_ENST00000513612.2_Silent_p.V82V			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	82					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATCAGCAGGTAGAAGAACATG	0.318000													3	66					0	0	0.150653	0	0
ROS1	6098	broad.mit.edu	37	6	117709068	117709068	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:117709068C>A	ENST00000368508.3	-	13	2087	c.1889G>T	c.(1888-1890)aGt>aTt	p.S630I	ROS1_ENST00000368507.3_Missense_Mutation_p.S625I|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	630	Fibronectin type-III 3.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CATGGTTCCACTTATGTTCAA	0.488000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								42	178					8.99859e-20	1.6756e-19	0.870114	1	0
DSE	29940	broad.mit.edu	37	6	116758051	116758051	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:116758051A>G	ENST00000331677.3	+	7	2864	c.2420A>G	c.(2419-2421)aAg>aGg	p.K807R	DSE_ENST00000537543.1_Missense_Mutation_p.K826R|DSE_ENST00000359564.2_Missense_Mutation_p.K807R|DSE_ENST00000452085.3_Missense_Mutation_p.K807R			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	807					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AGCAAGTCAAAGAAAAACCGA	0.428000													11	49					0	0	0.387290	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186946820	186946820	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:186946820C>G	ENST00000367466.3	+	16	2012	c.1860C>G	c.(1858-1860)tgC>tgG	p.C620W	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.C560W	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	620	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TGAAGGAGTGCTATGTCTTTA	0.438000													18	88					0	0	0.624587	0	0
SLC16A9	220963	broad.mit.edu	37	10	61413644	61413644	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:61413644G>A	ENST00000395348.3	-	5	1776	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	SLC16A9_ENST00000395347.1_Silent_p.I380I	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	380					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						GGCCCATGATGATTAAGGTAG	0.418000													18	93					0	0	0.575678	0	0
POLE	5426	broad.mit.edu	37	12	133240615	133240615	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:133240615C>A	ENST00000320574.5	-	23	2724	c.2681G>T	c.(2680-2682)gGc>gTc	p.G894V	POLE_ENST00000535270.1_Missense_Mutation_p.G867V	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	894					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CAACATGGCGCCTGGGTAGGA	0.542000								DNA polymerases (catalytic subunits)					8	50					0.000274275	0.000312327	0.307466	1	0
RBP1	5947	broad.mit.edu	37	3	139257785	139257785	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:139257785C>A	ENST00000483943.2	-	2	276	c.276G>T	c.(274-276)ttG>ttT	p.L92F	RBP1_ENST00000492918.1_Missense_Mutation_p.L92F|RP11-319G6.1_ENST00000515247.1_RNA|RBP1_ENST00000232219.2_Missense_Mutation_p.L92F	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN	retinol binding protein 1, cellular	30						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Vitamin A(DB00162)	CGATTTTGCGCAAGGCCACAT	0.557000													16	155					8.10497e-08	1.10142e-07	0.592651	1	0
ABHD13	84945	broad.mit.edu	37	13	108881859	108881859	+	Missense_Mutation	SNP	G	G	C	rs139350774	byFrequency	TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr13:108881859G>C	ENST00000375898.3	+	2	594	c.293G>C	c.(292-294)cGt>cCt	p.R98P		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	98						integral to membrane	hydrolase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GATGGAATACGTCTGAATCTT	0.398000													12	49					0	0	0.479597	0	0
ROBO2	6092	broad.mit.edu	37	3	77629120	77629120	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:77629120C>A	ENST00000461745.1	+	16	3251	c.2351C>A	c.(2350-2352)aCg>aAg	p.T784K	ROBO2_ENST00000332191.8_Missense_Mutation_p.T784K|ROBO2_ENST00000487694.3_Missense_Mutation_p.T800K	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	784	Fibronectin type-III 3.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GGAAATGAAACGCGATTCCAT	0.398000													17	99					1.33834e-09	1.93399e-09	0.557998	1	0
TMTC2	160335	broad.mit.edu	37	12	83250960	83250960	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:83250960G>C	ENST00000549919.1	+	3	2042	c.237G>C	c.(235-237)tgG>tgC	p.W79C	TMTC2_ENST00000321196.3_Missense_Mutation_p.W85C|TMTC2_ENST00000548305.1_Missense_Mutation_p.W85C			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	85						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TGAATCCCTGGAGCTACCATC	0.522000													28	144					0	0	0.769981	0	0
ZNF761	388561	broad.mit.edu	37	19	53959649	53959649	+	RNA	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:53959649G>A	ENST00000454407.1	+	0	2341							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACTTCATACCGGAGAGAAACC	0.408000													35	194					0	0	0.812448	0	0
PMS2P3	5387	broad.mit.edu	37	7	75155312	75155312	+	RNA	SNP	T	T	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:75155312T>G	ENST00000418756.1	-	0	559					NR_028059.1															lung(1)	1						CAGAAGCAGGTCACTGAAGTC	0.473000													4	86					0	0	0.217242	0	0
KIF17	57576	broad.mit.edu	37	1	20998542	20998542	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:20998542C>A	ENST00000247986.2	-	12	2921	c.2611G>T	c.(2611-2613)Gac>Tac	p.D871Y	KIF17_ENST00000375044.1_Missense_Mutation_p.D771Y|KIF17_ENST00000400463.3_Missense_Mutation_p.D871Y|KIF17_ENST00000490034.1_5'UTR			Q9P2E2	KIF17_HUMAN	kinesin family member 17	871					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)		TAGTTACAGTCCCTGCGAATC	0.562000													10	62					5.50884e-06	6.79743e-06	0.411799	1	0
CYBB	1536	broad.mit.edu	37	X	37663304	37663304	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:37663304G>T	ENST00000378588.4	+	9	1139	c.1072G>T	c.(1072-1074)Gtt>Ttt	p.V358F	CYBB_ENST00000536160.1_Missense_Mutation_p.V91F|CYBB_ENST00000492288.1_3'UTR|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Missense_Mutation_p.V326F	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	358	FAD-binding FR-type.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	p.V358L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						TATCCGCATCGTTGGGGACTG	0.468000													13	49					0.000132079	0.000153122	0.575678	1	0
IFI44	10561	broad.mit.edu	37	1	79125158	79125158	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:79125158G>T	ENST00000370747.4	+	6	1087	c.1002G>T	c.(1000-1002)ttG>ttT	p.L334F	IFI44_ENST00000545124.1_Missense_Mutation_p.L51F|IFI44_ENST00000495254.1_3'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	334					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						GAAGGGAGTTGGTAAACGCTG	0.378000													7	22					0.000442599	0.000499293	0.335167	1	0
KMT2D	8085	broad.mit.edu	37	12	49446092	49446092	+	Silent	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:49446092C>G	ENST00000301067.7	-	10	1373	c.1374G>C	c.(1372-1374)acG>acC	p.T458T		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GTGGTGGGGACGTGGGTGATT	0.632000													27	176					0	0	0.729181	0	0
EYA2	2139	broad.mit.edu	37	20	45797804	45797804	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:45797804C>A	ENST00000327619.5	+	11	1370	c.996C>A	c.(994-996)caC>caA	p.H332Q	EYA2_ENST00000317304.6_Missense_Mutation_p.H302Q|EYA2_ENST00000357410.3_Missense_Mutation_p.H332Q	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	332					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				ACCAGATCCACGTTGATGACG	0.423000													32	142					6.97489e-18	1.26435e-17	0.804634	1	0
NF1	4763	broad.mit.edu	37	17	29556952	29556952	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:29556952G>T	ENST00000358273.4	+	22	3333	c.2950G>T	c.(2950-2952)Ggg>Tgg	p.G984W	NF1_ENST00000356175.3_Missense_Mutation_p.G984W	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	984					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.G984W(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGAACATCTAGGGCAAGCTAG	0.348000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			19	152					9.90768e-06	1.21667e-05	0.681144	1	0
SOGA2	23255	broad.mit.edu	37	18	8825370	8825370	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:8825370G>T	ENST00000359865.3	+	15	4004	c.3862G>T	c.(3862-3864)Gcc>Tcc	p.A1288S	SOGA2_ENST00000306329.11_Missense_Mutation_p.A1607S|SOGA2_ENST00000518815.1_Missense_Mutation_p.A613S|SOGA2_ENST00000306285.7_Missense_Mutation_p.A613S|SOGA2_ENST00000400050.3_Missense_Mutation_p.A1247S|SOGA2_ENST00000517570.1_Missense_Mutation_p.A1247S	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1598																	GAAGGAGGTGGCCTTCTCTGT	0.607000													15	67					4.75885e-15	8.11734e-15	0.520397	1	0
INPP5J	27124	broad.mit.edu	37	22	31524557	31524557	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:31524557C>A	ENST00000331075.5	+	9	2159	c.2110C>A	c.(2110-2112)Cag>Aag	p.Q704K	INPP5J_ENST00000412277.2_Missense_Mutation_p.Q637K|INPP5J_ENST00000405300.1_Missense_Mutation_p.Q337K|INPP5J_ENST00000404390.3_Missense_Mutation_p.Q336K|INPP5J_ENST00000404453.1_Missense_Mutation_p.Q69K|INPP5J_ENST00000402238.1_Missense_Mutation_p.Q69K|INPP5J_ENST00000401755.1_Missense_Mutation_p.Q69K|INPP5J_ENST00000400294.2_Missense_Mutation_p.Q337K			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	704	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CCACCGACTCCAGGTGACGCA	0.602000													20	87					1.15919e-05	1.41334e-05	0.575678	1	0
DCHS1	8642	broad.mit.edu	37	11	6661976	6661976	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:6661976A>T	ENST00000299441.3	-	2	1280	c.869T>A	c.(868-870)gTg>gAg	p.V290E		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	290	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCGTAAGTCACAGCCCCATT	0.602000													13	78					0	0	0.435327	0	0
COL1A1	1277	broad.mit.edu	37	17	48263150	48263150	+	Missense_Mutation	SNP	C	C	T	rs72656349		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:48263150C>T	ENST00000225964.5	-	50	4355	c.4237G>A	c.(4237-4239)Gat>Aat	p.D1413N		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1413	Fibrillar collagen NC1.		D -> N (in OI2A).		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GTGCAGCCATCGACAGTGACG	0.637000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						8	42					0	0	0.411799	0	0
KNDC1	85442	broad.mit.edu	37	10	135020770	135020770	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:135020770G>A	ENST00000304613.3	+	20	3730	c.3709G>A	c.(3709-3711)Gtc>Atc	p.V1237I	KNDC1_ENST00000368572.2_Missense_Mutation_p.V1239I			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1237					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTTCTACAACGTCAACAAGCA	0.662000													7	69					0	0	0.387290	0	0
GSR	2936	broad.mit.edu	37	8	30560722	30560722	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:30560722G>A	ENST00000221130.5	-	5	618	c.528C>T	c.(526-528)ttC>ttT	p.F176F	GSR_ENST00000546342.1_Silent_p.F176F|GSR_ENST00000541648.1_Silent_p.F176F|GSR_ENST00000537535.1_Silent_p.F176F|GSR_ENST00000414019.1_Silent_p.F133F	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	176					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	GATCACTCGTGAAGGCTGCAT	0.483000													18	91					0	0	0.624587	0	0
TPP2	7174	broad.mit.edu	37	13	103289512	103289512	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr13:103289512G>T	ENST00000376052.3	+	14	1775	c.1759G>T	c.(1759-1761)Gaa>Taa	p.E587*	TPP2_ENST00000376065.4_Nonsense_Mutation_p.E587*			P29144	TPP2_HUMAN	tripeptidyl peptidase II	587					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAGCCATTTGGAACTCATGAA	0.383000													10	59					3.86212e-05	4.5625e-05	0.361761	1	0
DYM	54808	broad.mit.edu	37	18	46956761	46956761	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:46956761C>A	ENST00000269445.6	-	2	461	c.4G>T	c.(4-6)Gga>Tga	p.G2*	DYM_ENST00000584977.1_5'UTR|DYM_ENST00000442713.2_Nonsense_Mutation_p.G2*	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	2						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						CTATTCGATCCCATCTTCTAG	0.348000													15	71					2.94398e-08	4.07354e-08	0.557998	1	0
GOPC	57120	broad.mit.edu	37	6	117890851	117890851	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:117890851C>A	ENST00000535237.1	-	7	1190	c.961G>T	c.(961-963)Ggg>Tgg	p.G321W	GOPC_ENST00000368498.2_Missense_Mutation_p.G321W|GOPC_ENST00000052569.6_Missense_Mutation_p.G313W|DCBLD1_ENST00000296955.8_3'UTR|GOPC_ENST00000467125.1_5'UTR					golgi-associated PDZ and coiled-coil motif containing										GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		GCAGGTTGCCCCGGATGGATC	0.458000			O	ROS1	glioblastoma								48	260					1.00798e-23	1.96801e-23	0.870114	1	0
HUWE1	10075	broad.mit.edu	37	X	53560975	53560975	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:53560975G>T	ENST00000342160.3	-	82	13472	c.13015C>A	c.(13015-13017)Cac>Aac	p.H4339N	HUWE1_ENST00000262854.6_Missense_Mutation_p.H4339N			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4339	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TACCATGTGTGAGCTGAAGGC	0.483000													15	36					0.00887093	0.00948575	0.575678	1	0
AXDND1	126859	broad.mit.edu	37	1	179354422	179354422	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:179354422T>C	ENST00000367618.3	+	9	1178	c.791T>C	c.(790-792)aTg>aCg	p.M264T	AXDND1_ENST00000457238.2_Missense_Mutation_p.M264T|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	264										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						ATTTACAACATGATATTTCAT	0.363000													18	77					0	0	0.592651	0	0
MLKL	197259	broad.mit.edu	37	16	74708906	74708906	+	Missense_Mutation	SNP	T	T	A	rs145153968	byFrequency	TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:74708906T>A	ENST00000308807.7	-	10	1796	c.1333A>T	c.(1333-1335)Att>Ttt	p.I445F	MLKL_ENST00000306247.7_Missense_Mutation_p.I237F	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	445	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						CACTCATCAATGATCTCCCGC	0.547000													17	54					0	0	0.539581	0	0
TRDN	10345	broad.mit.edu	37	6	123573561	123573561	+	Silent	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:123573561T>C	ENST00000398178.3	-	38	1992	c.1971A>G	c.(1969-1971)gtA>gtG	p.V657V	TRDN_ENST00000334268.4_Intron	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	657					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		ACTTACTTGATACTCTTGCAG	0.244000													4	8					0	0	0.184627	0	0
CTNND2	1501	broad.mit.edu	37	5	11159808	11159808	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:11159808G>T	ENST00000304623.8	-	12	2228	c.2039C>A	c.(2038-2040)gCa>gAa	p.A680E	CTNND2_ENST00000458100.2_Missense_Mutation_p.A247E|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.A589E|CTNND2_ENST00000359640.2_Missense_Mutation_p.A680E|CTNND2_ENST00000503622.1_Missense_Mutation_p.A343E	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	680					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGTCAGTACTGCTAGGGCATC	0.507000													9	180					5.50884e-06	6.79743e-06	0.411799	1	0
ACSM1	116285	broad.mit.edu	37	16	20696582	20696582	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:20696582G>A	ENST00000307493.4	-	2	403	c.336C>T	c.(334-336)gaC>gaT	p.D112D	ACSM1_ENST00000520010.1_Silent_p.D112D|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	112					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						AGGCCAGATGGTCTCCCTGTT	0.582000													9	104					0	0	0.335167	0	0
SLC16A14	151473	broad.mit.edu	37	2	230910510	230910510	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:230910510G>T	ENST00000295190.4	-	4	1790	c.1332C>A	c.(1330-1332)atC>atA	p.I444I		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	444						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CACAGATGATGATGCCGTAGG	0.483000													12	52					2.31682e-05	2.78671e-05	0.479597	1	0
FGGY	55277	broad.mit.edu	37	1	60132975	60132975	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:60132975A>G	ENST00000371218.4	+	14	1573	c.1389A>G	c.(1387-1389)atA>atG	p.I463M	FGGY_ENST00000371212.1_Missense_Mutation_p.I351M|FGGY_ENST00000371210.1_Missense_Mutation_p.I140M|FGGY_ENST00000303721.7_Missense_Mutation_p.I439M	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	439					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					GCTTCATTATAGAAGCCATGG	0.438000													18	66					0	0	0.575678	0	0
NCAPG	64151	broad.mit.edu	37	4	17816555	17816555	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:17816555G>C	ENST00000251496.2	+	4	800	c.624G>C	c.(622-624)aaG>aaC	p.K208N		NM_022346.3	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	208					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		CATCAGCAAAGACTTTGCCAA	0.378000													21	88					0	0	0.681144	0	0
FLG	2312	broad.mit.edu	37	1	152276229	152276229	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:152276229G>T	ENST00000368799.1	-	3	11168	c.11133C>A	c.(11131-11133)ctC>ctA	p.L3711L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3711	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCACCTGGTAGAGGAAAGACC	0.617000									Ichthyosis				14	285					2.94398e-08	4.07354e-08	0.557998	1	0
STK32B	55351	broad.mit.edu	37	4	5461931	5461931	+	Silent	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:5461931A>G	ENST00000282908.5	+	9	1307	c.885A>G	c.(883-885)gcA>gcG	p.A295A	STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000510398.1_Silent_p.A248A|STK32B_ENST00000512636.1_Silent_p.A218A	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	295							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						TCAAGAAGGCACTGATGCCCG	0.582000											OREG0016061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	160					0	0	0.804634	0	0
ELAVL4	1996	broad.mit.edu	37	1	50659497	50659497	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:50659497C>A	ENST00000371824.1	+	4	672	c.415C>A	c.(415-417)Ctt>Att	p.L139I	ELAVL4_ENST00000357083.4_Missense_Mutation_p.L156I|ELAVL4_ENST00000371827.1_Missense_Mutation_p.L139I|ELAVL4_ENST00000448907.2_Missense_Mutation_p.L142I|ELAVL4_ENST00000371819.1_Missense_Mutation_p.L144I|ELAVL4_ENST00000371821.1_Missense_Mutation_p.L144I|ELAVL4_ENST00000371823.4_Missense_Mutation_p.L139I			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	139	RRM 2.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TGTTAGCGGCCTTCCCAAAAC	0.483000													29	133					2.80507e-11	4.34088e-11	0.760397	1	0
TRIO	7204	broad.mit.edu	37	5	14419894	14419894	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:14419894G>T	ENST00000344204.4	+	34	4991	c.4967G>T	c.(4966-4968)gGt>gTt	p.G1656V	TRIO_ENST00000537187.1_Missense_Mutation_p.G1656V	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1656	SH3 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CAGCTCTCTGGTGGCTGTGAG	0.612000													26	114					5.91797e-21	1.11923e-20	0.760397	1	0
WNT8A	7478	broad.mit.edu	37	5	137426751	137426751	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:137426751G>T	ENST00000506684.1	+	5	1335	c.1099G>T	c.(1099-1101)Ggc>Tgc	p.G367C	WNT8A_ENST00000398754.1_Missense_Mutation_p.G349C			Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	349					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCTGGGTAAGGGCAGTGCCTG	0.507000													4	119					0.184627	0.187367	0.184627	1	0
TSPYL6	388951	broad.mit.edu	37	2	54482415	54482415	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:54482415A>T	ENST00000317802.7	-	1	994	c.874T>A	c.(874-876)Tgc>Agc	p.C292S	ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000394666.3_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	292					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						TTAAACTTGCAGCCTGTCCTA	0.453000													15	124					0	0	0.539581	0	0
PSD	5662	broad.mit.edu	37	10	104174740	104174740	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:104174740G>T	ENST00000020673.5	-	4	1530	c.1004C>A	c.(1003-1005)cCc>cAc	p.P335H	PSD_ENST00000406432.1_Missense_Mutation_p.P335H	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	335					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GAGTGGGCCGGGCCGTGGGGC	0.657000													10	55					1.58986e-06	2.02508e-06	0.361761	1	0
TMEM74B	55321	broad.mit.edu	37	20	1162121	1162121	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:1162121G>T	ENST00000381894.3	-	2	813	c.142C>A	c.(142-144)Ccc>Acc	p.P48T	TMEM74B_ENST00000481747.1_5'UTR	NM_018354.1	NP_060824.1	Q9NUR3	CT046_HUMAN	transmembrane protein 74B	48						integral to membrane	protein binding										GGGCCCAGGGGAGCTGATCTC	0.607000													8	53					0.00448238	0.00485631	0.307466	1	0
SLITRK6	84189	broad.mit.edu	37	13	86368626	86368626	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr13:86368626G>T	ENST00000400286.2	-	2	2616	c.2018C>A	c.(2017-2019)cCc>cAc	p.P673H		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	673						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGAGGCAGAGGGTCTTTCAGT	0.448000													39	171					7.05121e-23	1.36244e-22	0.853193	1	0
CACNA2D4	93589	broad.mit.edu	37	12	1992039	1992039	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:1992039G>C	ENST00000382722.5	-	13	1841	c.1479C>G	c.(1477-1479)gaC>gaG	p.D493E	CACNA2D4_ENST00000587995.1_Missense_Mutation_p.D493E|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.D378E|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.D429E|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.D493E|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.D429E	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	493	Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TCACCTTGCTGTCCATGTAGG	0.587000													4	38					0	0	0.184627	0	0
PAK7	57144	broad.mit.edu	37	20	9546832	9546832	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:9546832G>T	ENST00000378429.3	-	6	1736	c.1190C>A	c.(1189-1191)aCg>aAg	p.T397K	PAK7_ENST00000353224.5_Missense_Mutation_p.T397K|PAK7_ENST00000378423.1_Missense_Mutation_p.T397K	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	397	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.T397K(2)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GTAGGAAGCCGTGGAGATGTA	0.617000													3	85					0.004672	0.00502988	0.115264	1	0
NWD1	284434	broad.mit.edu	37	19	16860465	16860465	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:16860465G>T	ENST00000524140.2	+	6	1430	c.1012G>T	c.(1012-1014)Gta>Tta	p.V338L	NWD1_ENST00000552788.1_Missense_Mutation_p.V338L|NWD1_ENST00000549814.1_Missense_Mutation_p.V338L|NWD1_ENST00000379808.3_Missense_Mutation_p.V338L|NWD1_ENST00000339803.6_Missense_Mutation_p.V203L|NWD1_ENST00000523826.1_Missense_Mutation_p.V132L	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	338	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CACCCCCCTGGTACTCTTTGG	0.627000													21	65					5.35356e-11	8.18592e-11	0.639603	1	0
MYOM2	9172	broad.mit.edu	37	8	2017481	2017481	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:2017481G>T	ENST00000262113.4	+	7	879	c.738G>T	c.(736-738)gtG>gtT	p.V246V	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	246					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CGGTGGTGGTGAGAAGTGAGT	0.577000													15	46					1.99824e-07	2.673e-07	0.520397	1	0
ITPRIPL1	150771	broad.mit.edu	37	2	96993917	96993917	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:96993917C>T	ENST00000361124.4	+	1	1983	c.1572C>T	c.(1570-1572)gtC>gtT	p.V524V	ITPRIPL1_ENST00000542887.1_Silent_p.V508V|ITPRIPL1_ENST00000536814.1_Silent_p.V508V|ITPRIPL1_ENST00000439118.2_Silent_p.V516V	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	516						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTGAGCCGGTCAATCTCTTCC	0.512000													14	66					0	0	0.520397	0	0
KEL	3792	broad.mit.edu	37	7	142640584	142640584	+	Silent	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:142640584A>T	ENST00000355265.2	-	15	2166	c.1692T>A	c.(1690-1692)ccT>ccA	p.P564P		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	564					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGGGATAGCCAGGGTGGAAGA	0.532000													4	88					0	0	0.248553	0	0
WAPAL	23063	broad.mit.edu	37	10	88259902	88259902	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:88259902C>A	ENST00000298767.5	-	3	1570	c.1098G>T	c.(1096-1098)ttG>ttT	p.L366F		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	366	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TACAAACTGACAAGCAAGATG	0.463000													11	60					5.50884e-06	6.79743e-06	0.411799	1	0
CERS3	204219	broad.mit.edu	37	15	100996236	100996236	+	Silent	SNP	C	C	A	rs140012314		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:100996236C>A	ENST00000284382.4	-	12	1284	c.861G>T	c.(859-861)acG>acT	p.T287T	CERS3_ENST00000394113.1_Silent_p.T287T|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000538112.2_Silent_p.T287T	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN	ceramide synthase 3	287	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GCAAGATCAGCGTGCAATATA	0.368000													10	26					3.07112e-06	3.8403e-06	0.387290	1	0
AHNAK2	113146	broad.mit.edu	37	14	105410345	105410345	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:105410345C>A	ENST00000333244.5	-	7	11562	c.11443G>T	c.(11443-11445)Gtg>Ttg	p.V3815L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3815						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)			GGGGCAGACACCCCAAATGAC	0.582000													82	457					1.94648e-57	4.0924e-57	0.870114	1	0
CFHR4	10877	broad.mit.edu	37	1	196876060	196876060	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:196876060A>T	ENST00000367416.2	+	4	643	c.506A>T	c.(505-507)gAc>gTc	p.D169V	CFHR4_ENST00000367418.1_Intron|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						AAGCTCCATGACACATTGGAC	0.388000													7	44					0	0	0.278610	0	0
UGT2B7	7364	broad.mit.edu	37	4	69973832	69973832	+	Missense_Mutation	SNP	A	A	T	rs151128457	byFrequency	TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:69973832A>T	ENST00000305231.7	+	5	1148	c.1102A>T	c.(1102-1104)Acc>Tcc	p.T368S	UGT2B7_ENST00000508661.1_Intron|UGT2B7_ENST00000509763.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	368					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCATCCAAAGACCAGAGCTTT	0.428000													38	125					0	0	0.870114	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28315752	28315752	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr21:28315752G>T	ENST00000284987.5	-	3	1473	c.1352C>A	c.(1351-1353)cCc>cAc	p.P451H		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	451	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TTTGGACCAGGGCTTAGATGC	0.438000													4	35					1.23904e-05	1.50533e-05	0.184627	1	0
NALCN	259232	broad.mit.edu	37	13	102029177	102029177	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr13:102029177C>G	ENST00000251127.6	-	6	599	c.518G>C	c.(517-519)cGa>cCa	p.R173P	NALCN_ENST00000376196.3_Missense_Mutation_p.R173P|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Missense_Mutation_p.R173P	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	173						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTCTCCCGATCGCCTAGAGAA	0.308000													22	126					0	0	0.639603	0	0
MUC16	94025	broad.mit.edu	37	19	8997533	8997533	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:8997533G>C	ENST00000397910.4	-	59	41092	c.40889C>G	c.(40888-40890)gCc>gGc	p.A13630G	MUC16_ENST00000380951.5_Missense_Mutation_p.A271G	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13632				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGAGGGCTGGCAGCTGTCGT	0.463000													18	76					0	0	0.557998	0	0
MYOM3	127294	broad.mit.edu	37	1	24435042	24435042	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:24435042C>A	ENST00000330966.7	-	2	247	c.85G>T	c.(85-87)Gag>Tag	p.E29*	MYOM3_ENST00000374434.3_Nonsense_Mutation_p.E29*|MYOM3_ENST00000329601.7_Nonsense_Mutation_p.E29*			Q5VTT5	MYOM3_HUMAN	myomesin 3	29										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGCTCCTCCTCCTGCCGGTGC	0.697000													4	11					0.184627	0.187367	0.184627	1	0
KCNU1	157855	broad.mit.edu	37	8	36766936	36766936	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:36766936G>T	ENST00000399881.3	+	21	2251	c.2214G>T	c.(2212-2214)ttG>ttT	p.L738F		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	738						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TAATGCCCTTGAGAGCCAGCA	0.473000													56	206					3.7469e-33	7.72727e-33	0.870114	1	0
PVRIG	79037	broad.mit.edu	37	7	99818586	99818586	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:99818586C>A	ENST00000317271.2	+	6	1056	c.693C>A	c.(691-693)gtC>gtA	p.V231V	GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing	231						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCTTCACGTCCCTTATGCCA	0.677000													27	154					3.62531e-18	6.60669e-18	0.796494	1	0
GATA3-AS1	399717	broad.mit.edu	37	10	8092786	8092786	+	RNA	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:8092786G>T	ENST00000355358.1	-	0	1840					NR_024256.1																						GCCCCGGGCGGCCCGAGGCAC	0.617000													8	22					2.17888e-05	2.62694e-05	0.335167	1	0
PCDHA4	56144	broad.mit.edu	37	5	140188142	140188142	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:140188142A>T	ENST00000530339.1	+	1	1370	c.1370A>T	c.(1369-1371)cAg>cTg	p.Q457L	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.Q457L|PCDHA4_ENST00000356878.4_Missense_Mutation_p.Q457L|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTTCGCGCAGCCCGAGTAC	0.657000													30	82					0	0	0.750413	0	0
IGSF22	283284	broad.mit.edu	37	11	18739528	18739528	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:18739528T>C	ENST00000513874.1	-	9	1062	c.923A>G	c.(922-924)tAc>tGc	p.Y308C	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	308	Ig-like 2.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GGACAGGCTGTAGATGCCAGC	0.547000													40	129					0	0	0.859065	0	0
C12orf50	160419	broad.mit.edu	37	12	88379717	88379717	+	Missense_Mutation	SNP	C	C	A	rs149469123		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:88379717C>A	ENST00000298699.2	-	11	1216	c.1036G>T	c.(1036-1038)Gcg>Tcg	p.A346S	C12orf50_ENST00000550553.1_Missense_Mutation_p.A307S	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	346										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						GCATTCAACGCGACAGTCCTG	0.478000													30	173					6.29468e-14	1.04758e-13	0.804634	1	0
EPHB4	2050	broad.mit.edu	37	7	100421305	100421305	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:100421305C>A	ENST00000358173.3	-	3	840	c.372G>T	c.(370-372)acG>acT	p.T124T	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Silent_p.T124T	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	124					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCGTGAGGGCCGTGGCCGTGT	0.647000													22	113					1.66031e-10	2.47958e-10	0.667858	1	0
MC1R	4157	broad.mit.edu	37	16	89986365	89986365	+	Silent	SNP	G	G	A	rs146544450	by1000genomes	TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:89986365G>A	ENST00000555427.1	+	3	3002	c.699G>A	c.(697-699)caG>caA	p.Q233Q	RP11-566K11.4_ENST00000554623.1_RNA|TUBB3_ENST00000556922.1_Silent_p.Q233Q|MC1R_ENST00000555147.1_Silent_p.Q233Q					melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CGGTCCACCAGGGCTTTGGCC	0.642000									Melanoma, Familial Clustering of				6	17					0	0	0.217242	0	0
UGT1A4	54657	broad.mit.edu	37	2	234628319	234628319	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:234628319A>T	ENST00000373409.3	+	1	896	c.853A>T	c.(853-855)Aag>Tag	p.K285*	UGT1A8_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		TGCCAACGGGAAGCCACTATC	0.468000													28	157					0	0	0.769981	0	0
ANO5	203859	broad.mit.edu	37	11	22283832	22283832	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:22283832G>T	ENST00000324559.8	+	16	2105	c.1788G>T	c.(1786-1788)tgG>tgT	p.W596C		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	596						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTAATGAGTGGAGAAGTGAAG	0.363000													9	74					2.80697e-09	4.01948e-09	0.387290	1	0
PDE1B	5153	broad.mit.edu	37	12	54970398	54970398	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:54970398C>T	ENST00000243052.3	+	14	1856	c.1420C>T	c.(1420-1422)Ccc>Tcc	p.P474S	PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.P433S|PDE1B_ENST00000550620.1_Missense_Mutation_p.P454S	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	474	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						AGTGGGAGACCCCAACCCTGA	0.567000													8	50					0	0	0.361761	0	0
CELSR1	9620	broad.mit.edu	37	22	46795729	46795729	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:46795729C>A	ENST00000262738.3	-	10	5296	c.5297G>T	c.(5296-5298)gGg>gTg	p.G1766V		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1766	Laminin G-like 2.				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)		CACCCGCAACCCGGACAGCAT	0.582000													35	87					8.69298e-16	1.51298e-15	0.827153	1	0
SOX6	55553	broad.mit.edu	37	11	15994655	15994655	+	Missense_Mutation	SNP	T	T	A	rs79401318		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:15994655T>A	ENST00000352083.6	-	16	2264	c.2187A>T	c.(2185-2187)caA>caT	p.Q729H	SOX6_ENST00000527619.1_Missense_Mutation_p.Q705H|SOX6_ENST00000396356.3_Missense_Mutation_p.Q709H|SOX6_ENST00000316399.6_Missense_Mutation_p.Q709H|SOX6_ENST00000528429.1_Missense_Mutation_p.Q729H|SOX6_ENST00000528252.1_Missense_Mutation_p.Q702H			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	729					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TCTGAGGCTGTTGCCTATATA	0.423000													6	47					0	0	0.307466	0	0
ZC3H3	23144	broad.mit.edu	37	8	144620310	144620310	+	Silent	SNP	T	T	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:144620310T>G	ENST00000262577.5	-	2	1258	c.1227A>C	c.(1225-1227)ccA>ccC	p.P409P		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	409					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TAGACAGGACTGGGGAGAGCT	0.622000													11	116					0	0	0.435327	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101773353	101773353	+	Splice_Site	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:101773353T>A	ENST00000334289.3	-	6	1134	c.540_splice	c.e6+1	p.E180_splice		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	180	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		GGGAAATACCTCAAATGGGTA	0.328000													23	78					0	0	0.717897	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128839824	128839824	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:128839824C>A	ENST00000310343.9	-	22	5241	c.5242G>T	c.(5242-5244)Gaa>Taa	p.E1748*	ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.E1399*|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.E1399*|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1748	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CGGTATTTTTCCATGTCCTCA	0.537000													5	77					0.000602214	0.000674165	0.184627	1	0
COL12A1	1303	broad.mit.edu	37	6	75893730	75893730	+	Silent	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:75893730T>C	ENST00000322507.8	-	9	1437	c.1128A>G	c.(1126-1128)cgA>cgG	p.R376R	COL12A1_ENST00000483888.2_Silent_p.R376R|COL12A1_ENST00000416123.2_Silent_p.R376R|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	376	Fibronectin type-III 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GAGCGTGCTGTCGGCTTCCTG	0.498000													5	129					0	0	0.217242	0	0
MUC2	4583	broad.mit.edu	37	11	1083757	1083757	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:1083757G>T	ENST00000441003.2	+	18	2316	c.2289G>T	c.(2287-2289)aaG>aaT	p.K763N	MUC2_ENST00000359061.5_Missense_Mutation_p.K763N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	763						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CGGCCCCAAAGATCCACATGG	0.706000													9	38					0.0581538	0.0603294	0.335167	1	0
TAPT1	202018	broad.mit.edu	37	4	16165040	16165040	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:16165040C>A	ENST00000405303.2	-	14	1678	c.1595G>T	c.(1594-1596)gGt>gTt	p.G532V	TAPT1_ENST00000399920.3_Missense_Mutation_p.G421V|TAPT1_ENST00000304584.8_3'UTR	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	532						integral to membrane	growth hormone-releasing hormone receptor activity			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						CTTCTCGTCACCATCTGGAGT	0.383000													20	107					0.000175454	0.000202379	0.592651	1	0
KIF2B	84643	broad.mit.edu	37	17	51902288	51902288	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:51902288C>A	ENST00000268919.4	+	1	2050	c.1894C>A	c.(1894-1896)Cat>Aat	p.H632N		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	632					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGAGTACACCATGATATTGA	0.428000													16	77					1.01871e-10	1.53819e-10	0.575678	1	0
XRCC6	2547	broad.mit.edu	37	22	42042919	42042919	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:42042919A>G	ENST00000359308.4	+	6	1448	c.793A>G	c.(793-795)Aaa>Gaa	p.K265E	XRCC6_ENST00000360079.3_Missense_Mutation_p.K265E|XRCC6_ENST00000405878.1_Missense_Mutation_p.K265E|XRCC6_ENST00000428575.2_Missense_Mutation_p.K132E|XRCC6_ENST00000405506.1_Missense_Mutation_p.K215E|XRCC6_ENST00000402580.3_Missense_Mutation_p.K224E			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	265	Ku.				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						GAAGCTCAACAAAGATATAGT	0.393000								Non-homologous end-joining					39	122					0	0	0.870114	0	0
LIPK	643414	broad.mit.edu	37	10	90497450	90497450	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:90497450C>T	ENST00000404190.1	+	6	728	c.728C>T	c.(727-729)aCc>aTc	p.T243I		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	243					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TTCATTGCCACCAAAGTGTGC	0.388000													31	140					0	0	0.779181	0	0
SCAF1	58506	broad.mit.edu	37	19	50154183	50154183	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:50154183G>T	ENST00000360565.3	+	7	661	c.537G>T	c.(535-537)acG>acT	p.T179T		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	179					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCTTGGGCACGGGAGACGGGG	0.667000													8	35					5.4927e-09	7.78386e-09	0.307466	1	0
AHNAK2	113146	broad.mit.edu	37	14	105406558	105406558	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:105406558G>T	ENST00000333244.5	-	7	15349	c.15230C>A	c.(15229-15231)gCa>gAa	p.A5077E	AHNAK2_ENST00000557457.1_Missense_Mutation_p.A75E	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5077						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)			TGTGGCACTTGCTGTTGCACC	0.562000													37	152					1.76056e-25	3.48713e-25	0.859065	1	0
OR2F2	135948	broad.mit.edu	37	7	143632882	143632882	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:143632882G>T	ENST00000408955.2	+	1	624	c.557G>T	c.(556-558)aGg>aTg	p.R186M		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					GCTGTGGTCAGGCTGGCTTGT	0.483000													26	103					3.73988e-18	6.80944e-18	0.706142	1	0
PRDM7	11105	broad.mit.edu	37	16	90128874	90128874	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:90128874C>T	ENST00000449207.2	-	6	564	c.545G>A	c.(544-546)aGc>aAc	p.S182N	PRDM7_ENST00000407825.1_5'UTR	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	182						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TTCTCGCAGGCTATACATCTT	0.473000													39	171					0	0	0.859065	0	0
EXOC1	55763	broad.mit.edu	37	4	56738125	56738125	+	Splice_Site	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:56738125G>T	ENST00000381295.2	+	8	1422		c.e8+1		EXOC1_ENST00000349598.6_Splice_Site|EXOC1_ENST00000346134.7_Splice_Site	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1						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)					TGTTCAACAGGtaattttatt	0.368000													10	38					2.27111e-07	3.01639e-07	0.411799	1	0
HRNR	388697	broad.mit.edu	37	1	152188534	152188534	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:152188534G>T	ENST00000368801.2	-	3	5646	c.5571C>A	c.(5569-5571)agC>agA	p.S1857R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1857					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCGGCCACTGCTGGAAGACC	0.592000													33	1381					5.01169e-05	5.91374e-05	0.520397	1	0
COPS5	10987	broad.mit.edu	37	8	67971598	67971598	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:67971598C>A	ENST00000517736.1	-	2	595	c.34G>T	c.(34-36)Gaa>Taa	p.E12*	COPS5_ENST00000357849.4_Nonsense_Mutation_p.E76*			Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	76					cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CCCATCACTTCCAAGTTGCCT	0.458000													26	178					4.4194e-11	6.79297e-11	0.769981	1	0
RAB40B	10966	broad.mit.edu	37	17	80622416	80622416	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:80622416C>A	ENST00000571995.1	-	2	290	c.159G>T	c.(157-159)acG>acT	p.T53T	RAB40B_ENST00000538809.2_Silent_p.T53T|RAB40B_ENST00000269347.6_5'UTR	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	53					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GGATGGTGGTCGTCTTGTAGT	0.622000													7	176					1.33987e-11	2.10361e-11	0.361761	1	0
C20orf85	128602	broad.mit.edu	37	20	56726071	56726071	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:56726071G>A	ENST00000371168.3	+	1	112	c.51G>A	c.(49-51)gtG>gtA	p.V17V		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	17										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			TGAACCTTGTGGGTCAGGATG	0.637000													3	10					0	0	0.115264	0	0
TEP1	7011	broad.mit.edu	37	14	20845902	20845902	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:20845902C>A	ENST00000262715.5	-	40	5772	c.5732G>T	c.(5731-5733)tGg>tTg	p.W1911L	TEP1_ENST00000545983.1_Missense_Mutation_p.W249L|TEP1_ENST00000556935.1_Missense_Mutation_p.W1803L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1911					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGACCCTGACCACACCTGAAC	0.582000													6	20					0.00116845	0.00129323	0.217242	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140719830	140719830	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr5:140719830C>A	ENST00000394576.2	+	1	1292	c.1292C>A	c.(1291-1293)tCc>tAc	p.S431Y	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAACCCCTCCCTGTCCACG	0.512000													19	35					7.41877e-09	1.04637e-08	0.608945	1	0
FOXN3	1112	broad.mit.edu	37	14	89628831	89628831	+	Missense_Mutation	SNP	C	C	A	rs147844828		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:89628831C>A	ENST00000345097.4	-	7	1516	c.1400G>T	c.(1399-1401)cGg>cTg	p.R467L	FOXN3_ENST00000555353.1_Missense_Mutation_p.R445L|FOXN3_ENST00000261302.5_Missense_Mutation_p.R467L|FOXN3_ENST00000557258.1_Missense_Mutation_p.R445L	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	467					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CAAACAGGACCGGATCCCTGC	0.483000													13	96					2.4624e-09	3.54336e-09	0.575678	1	0
SIGLEC8	27181	broad.mit.edu	37	19	51961326	51961326	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:51961326C>A	ENST00000321424.3	-	1	382	c.316G>T	c.(316-318)Gac>Tac	p.D106Y	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.D106Y|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.D106Y	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	106	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGGGAGCAGTCGTTGCTCCAA	0.517000													45	134					1.4709e-25	2.91904e-25	0.870114	1	0
CNTNAP2	26047	broad.mit.edu	37	7	147869567	147869567	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:147869567A>G	ENST00000361727.3	+	18	3523	c.3007A>G	c.(3007-3009)Aaa>Gaa	p.K1003E	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.K62E	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1003					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATTTTGCAACAAAGGTAAGGT	0.383000										HNSCC(39;0.1)			29	209					0	0	0.812448	0	0
PACSIN1	29993	broad.mit.edu	37	6	34498311	34498311	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:34498311G>T	ENST00000538621.1	+	8	1229	c.984G>T	c.(982-984)ctG>ctT	p.L328L	PACSIN1_ENST00000374043.2_Silent_p.L286L|PACSIN1_ENST00000244458.2_Silent_p.L328L	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	328					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GAGTGGCGCTGACCAATGCCA	0.632000													4	32					0.00909568	0.00968067	0.150653	1	0
IL18RAP	8807	broad.mit.edu	37	2	103057814	103057814	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:103057814A>C	ENST00000264260.2	+	7	1362	c.773A>C	c.(772-774)gAg>gCg	p.E258A	IL18RAP_ENST00000409369.1_Missense_Mutation_p.E116A	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	258	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GATCCTGTCGAGGACACACTG	0.448000													17	74					0	0	0.654019	0	0
TCHH	7062	broad.mit.edu	37	1	152081544	152081544	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:152081544C>A	ENST00000368804.1	-	2	4148	c.4149G>T	c.(4147-4149)ctG>ctT	p.L1383L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1383	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGGCGGCGCAGCCGCTGTT	0.587000													17	103					6.94344e-10	1.01409e-09	0.539581	1	0
TGM3	7053	broad.mit.edu	37	20	2290824	2290824	+	Splice_Site	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:2290824G>T	ENST00000381458.5	+	3	245	c.181_splice	c.e3-1	p.G61_splice		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	61					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TCTTTGACAGGGCCTTACCCC	0.547000													46	135					9.90819e-18	1.78975e-17	0.870114	1	0
KIF2B	84643	broad.mit.edu	37	17	51902316	51902316	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:51902316C>T	ENST00000268919.4	+	1	2078	c.1922C>T	c.(1921-1923)tCt>tTt	p.S641F		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	641					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATTGCCCGGTCTTTGTCCATT	0.443000													5	66					0	0	0.278610	0	0
GNAS	2778	broad.mit.edu	37	20	57429151	57429151	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:57429151C>A	ENST00000306120.3	+	1	641	c.641C>A	c.(640-642)tCc>tAc	p.S214Y	GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Silent_p.V277V|GNAS_ENST00000371100.4_Silent_p.V277V|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371102.4_Silent_p.V277V|GNAS_ENST00000313949.7_Intron			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCCTCTGGGTCCCAGGCGCCA	0.672000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			3	19					0.00909568	0.00968067	0.150653	1	0
DGKB	1607	broad.mit.edu	37	7	14217668	14217668	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:14217668C>A	ENST00000403951.2	-	24	2653	c.2234G>T	c.(2233-2235)tGc>tTc	p.C745F	DGKB_ENST00000407950.1_Missense_Mutation_p.C737F|DGKB_ENST00000402815.1_Missense_Mutation_p.C744F|DGKB_ENST00000444700.2_Missense_Mutation_p.C726F|DGKB_ENST00000399322.3_Missense_Mutation_p.C745F|DGKB_ENST00000258767.5_Missense_Mutation_p.C745F|DGKB_ENST00000406247.3_Missense_Mutation_p.C745F			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	745					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GATGACCACGCAGGAGCACTG	0.502000													10	55					0.00829132	0.00887059	0.361761	1	0
MED1	5469	broad.mit.edu	37	17	37566428	37566428	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:37566428C>A	ENST00000300651.6	-	17	2269	c.2046G>T	c.(2044-2046)tcG>tcT	p.S682S	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	682	Interaction with ESR1.|Interaction with GATA1 (By similarity).|Interaction with PPARGC1A and THRA.|Interaction with VDR.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGTTGCTCCCCGAGCATATTT	0.458000										HNSCC(31;0.082)			8	153					0.00621372	0.00666173	0.335167	1	0
MAGI2	9863	broad.mit.edu	37	7	77797364	77797364	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:77797364C>G	ENST00000354212.4	-	15	2718	c.2465G>C	c.(2464-2466)gGa>gCa	p.G822A	MAGI2_ENST00000522391.1_Missense_Mutation_p.G822A|MAGI2_ENST00000419488.1_Missense_Mutation_p.G808A	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	822	PDZ 4.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AAGCTCATCTCCTGGGTGAAG	0.527000													41	112					0	0	0.870114	0	0
SLC18A1	6570	broad.mit.edu	37	8	20036725	20036725	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:20036725A>T	ENST00000440926.1	-	4	865	c.395T>A	c.(394-396)tTg>tAg	p.L132*	SLC18A1_ENST00000519026.1_Nonsense_Mutation_p.L132*|SLC18A1_ENST00000265808.7_Nonsense_Mutation_p.L132*|SLC18A1_ENST00000437980.1_Nonsense_Mutation_p.L132*|SLC18A1_ENST00000276373.5_Nonsense_Mutation_p.L132*|SLC18A1_ENST00000381608.4_Nonsense_Mutation_p.L132*	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	132					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		CTCTTCCTCCAAGAAACCTGT	0.517000													13	85					0	0	0.520397	0	0
MARK1	4139	broad.mit.edu	37	1	220752708	220752708	+	Translation_Start_Site	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:220752708G>A	ENST00000402574.1	+	0	661				MARK1_ENST00000366918.4_Missense_Mutation_p.D22N|MARK1_ENST00000366917.4_Missense_Mutation_p.D22N|MARK1_ENST00000472121.1_3'UTR	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1						intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TACATCTGTGGATGGATATAC	0.353000													17	43					0	0	0.557998	0	0
AGO2	27161	broad.mit.edu	37	8	141567222	141567222	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:141567222C>A	ENST00000220592.5	-	8	1104	c.992G>T	c.(991-993)gGa>gTa	p.G331V	AGO2_ENST00000519980.1_Missense_Mutation_p.G331V	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		CTGCTCCTGTCCGACTTGTAA	0.617000													40	238					1.02591e-13	1.69908e-13	0.853193	1	0
HOXA13	3209	broad.mit.edu	37	7	27237969	27237969	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:27237969G>A	ENST00000222753.4	-	2	1043	c.1015C>T	c.(1015-1017)Cgg>Tgg	p.R339W		NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	339					skeletal system development	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GCGTATTCCCGTTCAAGTTCT	0.498000			T	NUP98	AML						OREG0003748	type=REGULATORY REGION|Gene=HOXA13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	9	229					0	0	0.411799	0	0
RNF144B	255488	broad.mit.edu	37	6	18463605	18463605	+	Silent	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:18463605A>T	ENST00000259939.3	+	7	1082	c.765A>T	c.(763-765)cgA>cgT	p.R255R	RNF144B_ENST00000429054.2_Silent_p.R166R	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	ring finger protein 144B	255					apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			TGTGGAACCGAACACAGGTAC	0.443000													9	45					0	0	0.335167	0	0
APP	351	broad.mit.edu	37	21	27484348	27484348	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr21:27484348C>A	ENST00000358918.3	-	2	372	c.173G>T	c.(172-174)gGg>gTg	p.G58V	APP_ENST00000474136.1_5'UTR|APP_ENST00000346798.3_Missense_Mutation_p.G58V|APP_ENST00000359726.3_Missense_Mutation_p.G58V|APP_ENST00000440126.3_Missense_Mutation_p.G53V|APP_ENST00000357903.3_Missense_Mutation_p.G58V|APP_ENST00000448388.2_Missense_Mutation_p.G23V|APP_ENST00000348990.5_Missense_Mutation_p.G58V|APP_ENST00000439274.2_Intron|APP_ENST00000354192.3_Intron	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	58					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				GGTTTTGGTCCCTGATGGATC	0.493000													60	195					2.84776e-26	5.67891e-26	0.870114	1	0
SYN3	8224	broad.mit.edu	37	22	33265021	33265021	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:33265021G>T	ENST00000358763.2	-	5	795	c.553C>A	c.(553-555)Cag>Aag	p.Q185K	SYN3_ENST00000332840.5_Missense_Mutation_p.Q185K	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	185	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CCTCCATACTGCAGGCCGATG	0.592000													19	71					3.51602e-12	5.63221e-12	0.575678	1	0
TTN	7273	broad.mit.edu	37	2	179592996	179592996	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:179592996T>C	ENST00000589042.1	-	67	19779	c.19555A>G	c.(19555-19557)Aaa>Gaa	p.K6519E	TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.K6202E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K5275E|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6202	Ig-like 46.						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)			GATATTTCTTTTCCATCCTTA	0.373000													3	32					0	0	0.115264	0	0
UCK2	7371	broad.mit.edu	37	1	165860559	165860559	+	Splice_Site	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:165860559G>T	ENST00000367879.4	+	3	659	c.356_splice	c.e3+1	p.R119_splice	UCK2_ENST00000372212.4_Splice_Site_p.R119_splice	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	119					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					TCCCATTCCCGGTAAGTGAGC	0.512000													15	51					6.72482e-11	1.02293e-10	0.479597	1	0
PPP3CB	5532	broad.mit.edu	37	10	75231359	75231359	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:75231359T>C	ENST00000360663.5	-	5	647	c.536A>G	c.(535-537)tAt>tGt	p.Y179C	PPP3CB_ENST00000545874.1_Missense_Mutation_p.Y93C|PPP3CB_ENST00000394828.2_Missense_Mutation_p.Y179C|PPP3CB_ENST00000394829.2_Missense_Mutation_p.Y179C|PPP3CB_ENST00000394822.2_Missense_Mutation_p.Y197C|PPP3CB_ENST00000342558.3_Missense_Mutation_p.Y179C			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	179	Catalytic.									breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					TCTTTCCGAATACTTAATTTT	0.308000													10	58					0	0	0.387290	0	0
DHRSX	207063	broad.mit.edu	37	X	2161187	2161187	+	Silent	SNP	C	C	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:2161187C>G	ENST00000334651.5	-	6	733	c.681G>C	c.(679-681)gcG>gcC	p.A227A		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	227							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TTCCCTCAGCCGCCAGCAGCC	0.657000													7	53					0	0	0.278610	0	0
CCDC171	203238	broad.mit.edu	37	9	15721846	15721846	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:15721846G>T	ENST00000380701.3	+	12	1726	c.1398G>T	c.(1396-1398)caG>caT	p.Q466H	CCDC171_ENST00000297641.3_Missense_Mutation_p.Q466H	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	466																	CAGATTACCAGAACAAGCTGG	0.443000													30	106					9.17885e-22	1.7456e-21	0.779181	1	0
COL22A1	169044	broad.mit.edu	37	8	139737664	139737664	+	Missense_Mutation	SNP	C	C	T	rs138352355		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:139737664C>T	ENST00000303045.6	-	24	2605	c.2159G>A	c.(2158-2160)gGt>gAt	p.G720D	COL22A1_ENST00000435777.1_Missense_Mutation_p.G720D	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	720	Collagen-like 5.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G720V(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCCTGGGACACCAGGGGGTCC	0.582000										HNSCC(7;0.00092)			17	107					0	0	0.557998	0	0
TRBV29-1	28558	broad.mit.edu	37	7	142448561	142448561	+	RNA	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:142448561A>T	ENST00000422143.2	+	0	222																											TGGTACCGTCAGCAACCTGGA	0.507000													20	67					0	0	0.608945	0	0
TTLL9	164395	broad.mit.edu	37	20	30507693	30507693	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:30507693C>T	ENST00000375938.4	+	7	784	c.531C>T	c.(529-531)atC>atT	p.I177I	TTLL9_ENST00000310998.4_Silent_p.I127I|TTLL9_ENST00000535842.1_Silent_p.I177I|TTLL9_ENST00000375934.4_Silent_p.I159I|TTLL9_ENST00000375922.4_Intron|TTLL9_ENST00000375921.2_Intron			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	177	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGAAAGGCATCTTCCTCTTCC	0.622000													27	122					0	0	0.819951	0	0
PARD3B	117583	broad.mit.edu	37	2	206418047	206418047	+	Splice_Site	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:206418047G>T	ENST00000406610.2	+	22	3387		c.e22-1		PARD3B_ENST00000349953.3_Splice_Site|PARD3B_ENST00000358768.2_Splice_Site|PARD3B_ENST00000488622.1_Splice_Site|PARD3B_ENST00000351153.1_Splice_Site	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta						cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TCTCTCCACAGGTGCCTGGAA	0.478000													24	79					1.85244e-09	2.67314e-09	0.654019	1	0
TMEM39B	55116	broad.mit.edu	37	1	32557320	32557320	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:32557320G>C	ENST00000427288.1	+	7	770	c.290G>C	c.(289-291)cGc>cCc	p.R97P	TMEM39B_ENST00000456834.2_Silent_p.P160P|TMEM39B_ENST00000373634.4_Missense_Mutation_p.R13P|TMEM39B_ENST00000336294.5_Missense_Mutation_p.R212P|TMEM39B_ENST00000487305.1_3'UTR			Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	212						integral to membrane				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGCGACCTCCGCAAGACAAGC	0.627000													5	55					0	0	0.248553	0	0
RECQL5	9400	broad.mit.edu	37	17	73659002	73659002	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:73659002T>A	ENST00000420326.2	-	4	487	c.328A>T	c.(328-330)Aag>Tag	p.K110*	RECQL5_ENST00000584999.1_Nonsense_Mutation_p.K110*|RECQL5_ENST00000317905.5_Nonsense_Mutation_p.K110*|RECQL5_ENST00000340830.5_Nonsense_Mutation_p.K110*|RECQL5_ENST00000423245.2_Nonsense_Mutation_p.K83*	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	110	Helicase ATP-binding.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGCAGCTCCTTCCTTTCCTGT	0.517000								Other identified genes with known or suspected DNA repair function					48	271					0	0	0.870114	0	0
U2AF1L4	199746	broad.mit.edu	37	19	36233669	36233669	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:36233669C>A	ENST00000292879.5	-	6	492	c.439G>T	c.(439-441)Gag>Tag	p.E147*	U2AF1L4_ENST00000412391.2_Missense_Mutation_p.R205L|U2AF1L4_ENST00000378975.3_Missense_Mutation_p.R166L|AD000671.6_ENST00000589807.1_Intron	NM_144987.2	NP_659424.2	Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4	0	RRM.				mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTTCCTCTCTCGGGGATGGTG	0.602000													10	167					6.81908e-15	1.15643e-14	0.457914	1	0
PRR14L	253143	broad.mit.edu	37	22	32097651	32097651	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:32097651C>A	ENST00000327423.6	-	7	6287	c.6098G>T	c.(6097-6099)cGa>cTa	p.R2033L	PRR14L_ENST00000397493.2_Missense_Mutation_p.R2033L|PRR14L_ENST00000434485.1_Intron	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	2033										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						CCTTTTGGGTCGAGGAAGGCC	0.448000													5	57					0.000157383	0.000181637	0.278610	1	0
NBR1	4077	broad.mit.edu	37	17	41345114	41345114	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:41345114C>T	ENST00000422280.1	+	11	1536	c.1077C>T	c.(1075-1077)ctC>ctT	p.L359L	NBR1_ENST00000590996.1_Silent_p.L359L|NBR1_ENST00000341165.6_Silent_p.L359L|NBR1_ENST00000589872.1_Silent_p.L359L|NBR1_ENST00000542611.1_Silent_p.L338L|NBR1_ENST00000389312.4_Silent_p.L359L	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	359					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TGTTCAGGCTCCCTTTGCAGC	0.473000													8	76					0	0	0.307466	0	0
OR51B4	79339	broad.mit.edu	37	11	5323126	5323126	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:5323126G>T	ENST00000380224.1	-	1	100	c.51C>A	c.(49-51)ggC>ggA	p.G17G	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGCCTCTGAGCCCAAGAAGC	0.463000											OREG0003718	type=REGULATORY REGION|Gene=OR51B4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	15	101					3.51602e-12	5.63221e-12	0.575678	1	0
EP400	57634	broad.mit.edu	37	12	132534888	132534888	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:132534888C>T	ENST00000333577.4	+	41	7438	c.7329C>T	c.(7327-7329)ctC>ctT	p.L2443L	EP400_ENST00000332482.4_Silent_p.L2370L|EP400_ENST00000389562.2_Silent_p.L2406L|EP400_ENST00000330386.6_Silent_p.L2326L|EP400_ENST00000389561.2_Silent_p.L2407L			Q96L91	EP400_HUMAN	E1A binding protein p400	2443					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ACCGTCCTCTCCGTACGAGCC	0.517000													11	74					0	0	0.411799	0	0
TENM4	26011	broad.mit.edu	37	11	78443412	78443412	+	Silent	SNP	C	C	T	rs61743190		TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:78443412C>T	ENST00000278550.7	-	21	3549	c.3087G>A	c.(3085-3087)acG>acA	p.T1029T		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TGGCGAAGGACGTCAGTGGGG	0.507000													4	60					0	0	0.184627	0	0
TECTB	6975	broad.mit.edu	37	10	114059274	114059274	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:114059274C>T	ENST00000369422.3	+	8	859	c.859C>T	c.(859-861)Ctg>Ttg	p.L287L	TECTB_ENST00000494328.1_3'UTR	NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	287						anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GAAGCGCCTCCTGCGAGACCA	0.577000													11	66					0	0	0.435327	0	0
GNRHR	2798	broad.mit.edu	37	4	68606375	68606375	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:68606375A>T	ENST00000420975.2	-	3	681	c.682T>A	c.(682-684)Tgc>Agc	p.C228S	RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000502758.1_RNA|GNRHR_ENST00000226413.4_Silent_p.V270V	NM_001012763.1	NP_001012781.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	0					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	TGGCAAATGCAACCGTCATTT	0.413000													19	301					0	0	0.608945	0	0
HPS4	89781	broad.mit.edu	37	22	26849256	26849256	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:26849256G>A	ENST00000398145.2	-	14	2686	c.2070C>T	c.(2068-2070)ttC>ttT	p.F690F	HPS4_ENST00000336873.5_Silent_p.F690F|HPS4_ENST00000402105.3_Silent_p.F685F|HPS4_ENST00000398141.1_Silent_p.F703F|HPS4_ENST00000493455.2_Intron	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	690					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						CGGAGAGGCTGAAGGCGCCAT	0.582000									Hermansky-Pudlak syndrome				38	209					0	0	0.847076	0	0
GRIA4	2893	broad.mit.edu	37	11	105623852	105623852	+	Silent	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:105623852G>T	ENST00000393127.2	+	4	839	c.393G>T	c.(391-393)gtG>gtT	p.V131V	GRIA4_ENST00000530497.1_Silent_p.V131V|GRIA4_ENST00000525187.1_Silent_p.V131V|GRIA4_ENST00000428631.2_Silent_p.V131V|GRIA4_ENST00000393125.2_Silent_p.V131V|GRIA4_ENST00000282499.5_Silent_p.V131V	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	131					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GCCAGTTTGTGCTGCAACTAA	0.478000													8	53					3.09899e-07	4.08421e-07	0.307466	1	0
FAM135A	57579	broad.mit.edu	37	6	71235579	71235579	+	Missense_Mutation	SNP	C	C	G	rs142180295	byFrequency	TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:71235579C>G	ENST00000418814.2	+	15	3406	c.2792C>G	c.(2791-2793)tCc>tGc	p.S931C	FAM135A_ENST00000457062.2_Missense_Mutation_p.S718C|FAM135A_ENST00000370479.3_Missense_Mutation_p.S718C|FAM135A_ENST00000361499.3_Missense_Mutation_p.S735C|FAM135A_ENST00000505868.1_Missense_Mutation_p.S931C|FAM135A_ENST00000505769.1_Missense_Mutation_p.S511C	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	931										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GAAGAGACTTCCAGTGATGTG	0.368000													6	39					0	0	0.217242	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99764195	99764195	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:99764195C>T	ENST00000360039.4	-	3	751	c.359G>A	c.(358-360)cGc>cAc	p.R120H	GAL3ST4_ENST00000423751.1_Intron|GAL3ST4_ENST00000482469.1_5'UTR|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R120H|GAL3ST4_ENST00000411994.1_Intron|GAL3ST4_ENST00000426974.2_Intron	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	120					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACCCTGTGGGCGGTAGCCTTT	0.617000													45	138					0	0	0.870114	0	0
TACC1	6867	broad.mit.edu	37	8	38677234	38677234	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:38677234G>T	ENST00000379931.3	+	3	851	c.472G>T	c.(472-474)Gat>Tat	p.D158Y	TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000518415.1_Missense_Mutation_p.D113Y|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000520340.1_Missense_Mutation_p.D122Y|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000317827.4_Missense_Mutation_p.D158Y|TACC1_ENST00000443286.2_Missense_Mutation_p.D174Y			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	158	Interaction with TDRD7.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			AGAAACGAAGGATTCCACGGA	0.493000													27	134					4.74835e-14	7.92164e-14	0.750413	1	0
DCAF12L1	139170	broad.mit.edu	37	X	125686015	125686015	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chrX:125686015G>T	ENST00000371126.1	-	1	819	c.577C>A	c.(577-579)Cac>Aac	p.H193N		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	193										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CAGTCCTTGTGGCCATGGCGG	0.677000													9	17					0.000673444	0.000751445	0.361761	1	0
TPO	7173	broad.mit.edu	37	2	1440133	1440133	+	Silent	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:1440133C>A	ENST00000345913.4	+	5	550	c.459C>A	c.(457-459)ccC>ccA	p.P153P	TPO_ENST00000382201.3_Silent_p.P153P|TPO_ENST00000539820.1_Silent_p.P153P|TPO_ENST00000337415.3_Silent_p.P153P|TPO_ENST00000382198.1_Silent_p.P153P|TPO_ENST00000497517.2_Intron|TPO_ENST00000382269.3_Silent_p.P153P|TPO_ENST00000349624.3_Silent_p.P153P|TPO_ENST00000346956.3_Silent_p.P153P|TPO_ENST00000329066.4_Silent_p.P153P	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	153					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AATACAGGCCCATCACAGGAG	0.448000													10	60					9.70103e-10	1.41281e-09	0.361761	1	0
APOB	338	broad.mit.edu	37	2	21229275	21229275	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:21229275A>G	ENST00000233242.1	-	26	10592	c.10465T>C	c.(10465-10467)Tac>Cac	p.Y3489H		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3489	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATGGAAAAGTAAGAGGTGAGG	0.418000													5	69					0	0	0.184627	0	0
RPS3	6188	broad.mit.edu	37	11	75115252	75115252	+	Splice_Site	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:75115252G>A	ENST00000531188.1	+	5	600		c.e5+1		RPS3_ENST00000534440.1_Intron|RPS3_ENST00000527446.1_Splice_Site|RPS3_ENST00000529285.1_Intron|RPS3_ENST00000526608.1_Splice_Site|RPS3_ENST00000524851.1_Splice_Site|RPS3_ENST00000278572.6_Splice_Site	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3						activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						CTCAGACAGGGTGAGCAGCTG	0.493000													8	24					0	0	0.278610	0	0
ARID4B	51742	broad.mit.edu	37	1	235341218	235341218	+	Silent	SNP	A	A	G			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:235341218A>G	ENST00000264183.3	-	21	3842	c.3345T>C	c.(3343-3345)ggT>ggC	p.G1115G	ARID4B_ENST00000349213.3_Silent_p.G1029G|ARID4B_ENST00000494543.1_5'UTR|ARID4B_ENST00000366603.2_Silent_p.G1115G	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			CTCTTTTCTGACCTGTACAGG	0.343000													8	116					0	0	0.335167	0	0
ZNF845	91664	broad.mit.edu	37	19	53856090	53856090	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:53856090G>T	ENST00000458035.1	+	4	2279	c.2162G>T	c.(2161-2163)tGt>tTt	p.C721F	ZNF845_ENST00000595091.1_Missense_Mutation_p.C721F	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	721				Missing (in Ref. 1; BAG58121).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						CCTTACAAGTGTAATGAGTGT	0.413000													19	178					1.2644e-06	1.62076e-06	0.592651	1	0
NLRP8	126205	broad.mit.edu	37	19	56466375	56466375	+	Silent	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:56466375C>T	ENST00000291971.3	+	3	1022	c.951C>T	c.(949-951)agC>agT	p.S317S	NLRP8_ENST00000590542.1_Silent_p.S317S	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	317	NACHT.					cytoplasm	ATP binding	p.S317R(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCCTACTGAGCAGTTTGCTGA	0.502000													7	142					0	0	0.278610	0	0
FCGBP	8857	broad.mit.edu	37	19	40368372	40368372	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:40368372C>A	ENST00000221347.6	-	28	12983	c.12976G>T	c.(12976-12978)Gct>Tct	p.A4326S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4326						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACGTAGGAAGCCAGAGCCTTG	0.627000													39	312					3.76604e-16	6.6107e-16	0.853193	1	0
ADAMTS4	9507	broad.mit.edu	37	1	161165309	161165309	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:161165309G>T	ENST00000367996.4	-	4	1635	c.1207C>A	c.(1207-1209)Ccc>Acc	p.P403T	ADAMTS4_ENST00000478394.1_5'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	403	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGGGACCAGGGCTCCTCAGGA	0.552000													50	154					1.27334e-21	2.4171e-21	0.870114	1	0
PKD1L2	114780	broad.mit.edu	37	16	81145909	81145909	+	RNA	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:81145909G>T	ENST00000533478.1	-	0	4897				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000534142.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGTGGACAGGAGTACCAGGA	0.547000													17	73					1.33834e-09	1.93399e-09	0.557998	1	0
EPHA5	2044	broad.mit.edu	37	4	66280043	66280043	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:66280043C>A	ENST00000273854.3	-	7	2246	c.1646G>T	c.(1645-1647)gGt>gTt	p.G549V	EPHA5_ENST00000354839.4_Missense_Mutation_p.G549V|EPHA5_ENST00000432638.2_Missense_Mutation_p.G385V|EPHA5_ENST00000511294.1_Missense_Mutation_p.G549V	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	549	Fibronectin type-III 2.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ACTGAAGACACCATAGCCTGC	0.408000										TSP Lung(17;0.13)			28	81					1.22384e-17	2.20484e-17	0.769981	1	0
NUTM2G	441457	broad.mit.edu	37	9	99694204	99694204	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:99694204C>A	ENST00000354649.3	+	2	932	c.217C>A	c.(217-219)Cca>Aca	p.P73T	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000372322.3_Missense_Mutation_p.P73T	NM_001045477.2	NP_001038942.1			NUT family member 2G																		TGGCCGCGGCCCAAGTGGGGC	0.652000													13	46					4.3838e-07	5.72966e-07	0.435327	1	0
WDR37	22884	broad.mit.edu	37	10	1170964	1170964	+	Splice_Site	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:1170964G>T	ENST00000358220.1	+	13	1497	c.1353_splice	c.e13+1	p.Q451_splice	WDR37_ENST00000482165.1_3'UTR|WDR37_ENST00000263150.4_Splice_Site_p.Q451_splice			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	451										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		GCAGCCGACAGGTAACAGCAC	0.512000													12	60					4.36969e-10	6.41847e-10	0.435327	1	0
RCN1	5954	broad.mit.edu	37	11	32124954	32124954	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:32124954G>T	ENST00000054950.3	+	5	1109	c.816G>T	c.(814-816)tgG>tgT	p.W272C	RP1-65P5.3_ENST00000533009.1_RNA|RCN1_ENST00000532942.1_Missense_Mutation_p.W221C	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	272	EF-hand 5.					endoplasmic reticulum lumen	calcium ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					TTCGCCACTGGATCCTCCCTC	0.468000													16	108					8.10497e-08	1.10142e-07	0.592651	1	0
GPR149	344758	broad.mit.edu	37	3	154147312	154147312	+	Silent	SNP	G	G	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:154147312G>A	ENST00000389740.2	-	1	192	c.93C>T	c.(91-93)acC>acT	p.T31T		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	31						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AGATATTCAGGGTTCCTGGCG	0.388000													10	60					0	0	0.387290	0	0
OTOGL	283310	broad.mit.edu	37	12	80658819	80658819	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:80658819C>A	ENST00000458043.2	+	19	2032	c.2026C>A	c.(2026-2028)Ctc>Atc	p.L676I	OTOGL_ENST00000547103.1_Missense_Mutation_p.L676I	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CCACCAGGAGCTCTTTGCTCC	0.473000													65	212					1.7488e-33	3.61383e-33	0.870114	1	0
GPA33	10223	broad.mit.edu	37	1	167024976	167024976	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:167024976C>T	ENST00000367868.3	-	5	1025	c.682G>A	c.(682-684)Gtc>Atc	p.V228I	RP11-102C16.3_ENST00000417644.1_RNA|GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	228						integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CGAGATCTGACGGCCACCGTG	0.567000													39	208					0	0	0.870114	0	0
PADI6	353238	broad.mit.edu	37	1	17723476	17723477	+	RNA	INS	-	-	CA	rs67024576	by1000genomes	TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:17723476_17723477insCA	ENST00000434762.2	+	0	1669							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGGAATGCACCCAGGTGGCTGG	0.629													4	4	---	---	---	---					
ZMYM1	79830	broad.mit.edu	37	1	35579841	35579841	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:35579841delA	ENST00000373330.1	+	11	2584	c.2410delA	c.(2410-2412)tafs	p.I804fs	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Frame_Shift_Del_p.I804fs			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	804						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAAGAAACATATATCACAATC	0.348													14	91	---	---	---	---					
HMCN1	83872	broad.mit.edu	37	1	185878577	185878578	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:185878577_185878578insT	ENST00000271588.4	+	5	959_960	c.730_731insT	c.(730-732)gaafs	p.E244fs	HMCN1_ENST00000367492.2_Frame_Shift_Ins_p.E244fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	244					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						TGATCCCAGCCTGAAAGAGGTC	0.391													21	99	---	---	---	---					
DIEXF	27042	broad.mit.edu	37	1	210010304	210010305	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr1:210010304_210010305insT	ENST00000491415.2	+	6	867_868	c.810_811insT	c.(808-813)aacaagfs	p.K271fs		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	271					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						GTCCCCAAAAATCAAGCAGCCC	0.480													34	201	---	---	---	---					
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:96992793_96992795delGAG	ENST00000361124.4	+	1	859_861	c.448_450delGAG	c.(448-450)del	p.E155del	ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	147						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532													11	110	---	---	---	---					
FAP	2191	broad.mit.edu	37	2	163099836	163099837	+	Translation_Start_Site	INS	-	-	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:163099836_163099837insT	ENST00000188790.4	-	0	208_209				FAP_ENST00000443424.1_Start_Codon_Ins	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha						endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						ACTAACCTTCATTTTTCCAGAT	0.366													7	70	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179579035	179579035	+	Frame_Shift_Del	DEL	G	G	-	rs140003804	by1000genomes	TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:179579035delG	ENST00000589042.1	-	91	26690	c.26466delC	c.(26464-26466)gcfs	p.A8822fs	TTN_ENST00000591111.1_Frame_Shift_Del_p.A8505fs|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Frame_Shift_Del_p.A7578fs|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8505	Ig-like 71.						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)			CGGATAGCGTGGCGAAGCACT	0.398													38	256	---	---	---	---					
SH3BP4	23677	broad.mit.edu	37	2	235950100	235950102	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr2:235950100_235950102delGCC	ENST00000409212.1	+	4	1194_1196	c.687_689delGCC	c.(685-690)gag>ga	p.EP229del	SH3BP4_ENST00000344528.4_In_Frame_Del_p.EP229del|SH3BP4_ENST00000392011.2_In_Frame_Del_p.EP229del			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	229					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	p.P230L(1)		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)		TCCACGCAGAGCCGCCGGTCAGG	0.581													39	245	---	---	---	---					
C3orf62	375341	broad.mit.edu	37	3	49313910	49313911	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:49313910_49313911delCT	ENST00000343010.3	-	1	1431_1432	c.395_396delAG	c.(394-396)gfs	p.E132fs		NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	132										breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TTCTCCAAGACTCTCTTTCAGG	0.416													39	134	---	---	---	---					
NFKBIZ	64332	broad.mit.edu	37	3	101571784	101571785	+	Frame_Shift_Ins	INS	-	-	TGAT			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:101571784_101571785insTGAT	ENST00000326172.5	+	4	630_631	c.515_516insTGAT	c.(514-516)tgafs	p.*172fs	NFKBIZ_ENST00000394054.2_Frame_Shift_Ins_p.*72fs|NFKBIZ_ENST00000326151.5_Frame_Shift_Ins_p.*172fs	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.S172Y(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						GATTCGTTGTCTGATGGACCTG	0.406													20	144	---	---	---	---					
SLC51A	200931	broad.mit.edu	37	3	195955100	195955102	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr3:195955100_195955102delCTG	ENST00000296327.5	+	5	686_688	c.477_479delCTG	c.(475-480)ccc>cc	p.PC159del		NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		ACACAGGCCCctgctgctgctgc	0.665													7	174	---	---	---	---					
ZNF518B	85460	broad.mit.edu	37	4	10444940	10444940	+	Frame_Shift_Del	DEL	T	T	-			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:10444940delT	ENST00000326756.3	-	3	3451	c.3013delA	c.(3013-3015)ggfs	p.R1005fs		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	1005					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						ATCATTTGCCTTTTAATTTGA	0.403													15	74	---	---	---	---					
SLIT2	9353	broad.mit.edu	37	4	20482341	20482349	+	In_Frame_Del	DEL	AACTGGATT	AACTGGATT	-			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr4:20482341_20482349delAACTGGATT	ENST00000504154.1	+	6	722_730	c.470_478delAACTGGATT	c.(469-480)cac>c	p.QLDY157del	SLIT2_ENST00000503837.1_In_Frame_Del_p.QLDY157del|SLIT2_ENST00000273739.5_In_Frame_Del_p.QLDY157del|SLIT2_ENST00000503823.1_In_Frame_Del_p.QLDY157del	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	157					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTTAACAGGCAACTGGATTACAACCAGAT	0.459													14	168	---	---	---	---					
PRRC2A	7916	broad.mit.edu	37	6	31604005	31604005	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:31604005delC	ENST00000376033.2	+	26	5878	c.5644delC	c.(5644-5646)ccfs	p.P1883fs	PRRC2A_ENST00000376007.4_Frame_Shift_Del_p.P1883fs	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1883						cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCTATACCTACCCCCCGGCCC	0.522													11	606	---	---	---	---					
GRM1	2911	broad.mit.edu	37	6	146755399	146755401	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:146755399_146755401delCAG	ENST00000361719.2	+	9	3522_3524	c.3052_3054delCAG	c.(3052-3054)del	p.Q1022del	GRM1_ENST00000282753.1_In_Frame_Del_p.Q1022del|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1022	Gln/Pro-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCCTCCTCTCCAGCAGCAGCAGC	0.660													10	418	---	---	---	---					
SCAF8	22828	broad.mit.edu	37	6	155154240	155154241	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr6:155154240_155154241insT	ENST00000367178.3	+	20	4103_4104	c.3527_3528insT	c.(3526-3528)acgfs	p.T1176fs	TIAM2_ENST00000461783.3_5'UTR|SCAF8_ENST00000367186.4_Frame_Shift_Ins_p.T1242fs|SCAF8_ENST00000417268.1_Frame_Shift_Ins_p.T1176fs	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	1176	Arg-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						ATGAATGGAAATCGTCTTGGAC	0.446													15	47	---	---	---	---					
SLC25A13	10165	broad.mit.edu	37	7	95822453	95822453	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:95822453delC	ENST00000416240.2	-	6	701	c.511delG	c.(511-513)acfs	p.D171fs	SLC25A13_ENST00000265631.5_Frame_Shift_Del_p.D171fs|SLC25A13_ENST00000542654.1_Frame_Shift_Del_p.D63fs	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	171	EF-hand 4.				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CTAGCATTGTCCCGTTGCACA	0.413													26	123	---	---	---	---					
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139094365	139094366	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr7:139094365_139094366delAG	ENST00000354926.4	+	7	1098_1099	c.744_745delAG	c.(742-747)gaagfs	p.EE248fs	C7orf55-LUC7L2_ENST00000263545.6_Frame_Shift_Del_p.EE247fs|LUC7L2_ENST00000541515.3_Frame_Shift_Del_p.EE314fs|C7orf55-LUC7L2_ENST00000541170.3_Frame_Shift_Del_p.EE245fs	NM_016019.3	NP_057103.2																					AACGAAGAGAAGAGAGAGAGAG	0.391													8	48	---	---	---	---					
CSMD3	114788	broad.mit.edu	37	8	113420546	113420546	+	Splice_Site	DEL	C	C	-			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:113420546delC	ENST00000297405.5	-	34	5850		c.e34+1		CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000343508.3_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGGTCACTTACCTTGGTAAAC	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			29	170	---	---	---	---					
TG	7038	broad.mit.edu	37	8	133898781	133898781	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr8:133898781delG	ENST00000220616.4	+	9	1204	c.1164delG	c.(1162-1164)ctfs	p.L388fs	TG_ENST00000377869.1_Frame_Shift_Del_p.L388fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	388					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCACGACCTGTTCTCTTCCC	0.552													47	462	---	---	---	---					
UBAP2	55833	broad.mit.edu	37	9	33923972	33923972	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:33923972delC	ENST00000379238.1	-	24	2734	c.2617delG	c.(2617-2619)acfs	p.D873fs	UBAP2_ENST00000379235.1_Frame_Shift_Del_p.D112fs|UBAP2_ENST00000449054.1_Frame_Shift_Del_p.D873fs|UBAP2_ENST00000379239.4_Frame_Shift_Del_p.D606fs|UBAP2_ENST00000539807.1_Frame_Shift_Del_p.D628fs|UBAP2_ENST00000360802.1_Frame_Shift_Del_p.D873fs			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	873										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GATGCAGAGTCCCCACGGCCA	0.582													33	130	---	---	---	---					
MSANTD3-TMEFF1	100526694	broad.mit.edu	37	9	103204623	103204623	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:103204623delG	ENST00000502978.1	+	1	71	c.71delG	c.(70-72)cafs	p.R25fs	MSANTD3_ENST00000489377.1_3'UTR|TMEFF1_ENST00000334943.6_Frame_Shift_Del_p.D22fs|MSANTD3_ENST00000395067.2_Frame_Shift_Del_p.D135fs|MSANTD3_ENST00000374885.1_Frame_Shift_Del_p.D135fs	NM_001198812.1	NP_001185741.1	Q8IYR6	TEFF1_HUMAN		0					multicellular organismal development	integral to membrane|plasma membrane											ATACCACCCCGACGCCTCAGC	0.562													21	161	---	---	---	---					
COL5A1	1289	broad.mit.edu	37	9	137734063	137734063	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr9:137734063delC	ENST00000371817.3	+	66	5845	c.5431delC	c.(5431-5433)ccfs	p.P1811fs		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1811	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGAGCAGGTGCCCATCGTGGA	0.557													10	95	---	---	---	---					
ST8SIA6	338596	broad.mit.edu	37	10	17365095	17365096	+	Frame_Shift_Ins	INS	-	-	A			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr10:17365095_17365096insA	ENST00000377602.4	-	7	770_771	c.696_697insT	c.(694-699)cttgacfs	p.D233fs		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	233					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TTTATAGTCACAAGATTTGTTT	0.342													24	156	---	---	---	---					
MS4A3	932	broad.mit.edu	37	11	59828704	59828704	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:59828704delC	ENST00000278865.3	+	2	144	c.71delC	c.(70-72)ggfs	p.A24fs	MS4A3_ENST00000526199.1_3'UTR|MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000358152.2_Frame_Shift_Del_p.A24fs|MS4A3_ENST00000534744.1_Frame_Shift_Del_p.A24fs	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	24				A -> T (in Ref. 1; AAA62319).		endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				GGCAGTGAGGCGGGACCAGAA	0.493													31	103	---	---	---	---					
PRSS23	11098	broad.mit.edu	37	11	86519180	86519180	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr11:86519180delG	ENST00000280258.5	+	2	920	c.495delG	c.(493-495)gtfs	p.V165fs	PRSS23_ENST00000441050.1_Frame_Shift_Del_p.V133fs|PRSS23_ENST00000533902.2_Intron	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	165					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCACCCTGGTGGCAGAGAAGC	0.517													13	106	---	---	---	---					
RAB3IP	117177	broad.mit.edu	37	12	70209193	70209193	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr12:70209193delG	ENST00000550536.1	+	11	1855	c.1398delG	c.(1396-1398)ttfs	p.L466fs	AC025263.3_ENST00000550437.1_Intron|RAB3IP_ENST00000247833.7_Frame_Shift_Del_p.L450fs|RAB3IP_ENST00000362025.5_3'UTR|RAB3IP_ENST00000553099.1_Frame_Shift_Del_p.L244fs|RAB3IP_ENST00000325555.9_Frame_Shift_Del_p.L244fs|RAB3IP_ENST00000483530.2_3'UTR|RAB3IP_ENST00000551641.1_Frame_Shift_Del_p.L244fs|RAB3IP_ENST00000550847.1_Frame_Shift_Del_p.L157fs	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	466					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			AGATGTCATTGGCAAAGCTGG	0.368													24	163	---	---	---	---					
FRY	10129	broad.mit.edu	37	13	32841324	32841324	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr13:32841324delG	ENST00000380250.3	+	55	8460	c.7964delG	c.(7963-7965)agfs	p.R2655fs	FRY_ENST00000542859.1_Frame_Shift_Del_p.R25fs	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2655					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GAAGGTGACAGGGGAGTCTCT	0.532													21	173	---	---	---	---					
KLHL1	57626	broad.mit.edu	37	13	70371085	70371086	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr13:70371085_70371086insT	ENST00000377844.4	-	7	2182_2183	c.1423_1424insA	c.(1423-1425)tatfs	p.Y475fs	KLHL1_ENST00000545028.1_Frame_Shift_Ins_p.Y282fs	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	475					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TTTCTCTATAGTTGTAGCTCCT	0.391													16	126	---	---	---	---					
OR5AU1	390445	broad.mit.edu	37	14	21624120	21624120	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr14:21624120delA	ENST00000304418.3	-	1	102	c.65delT	c.(64-66)tafs	p.L22fs		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		AATTCTGCCTAAGGACAGCCT	0.468													10	234	---	---	---	---					
GOLGA6B	55889	broad.mit.edu	37	15	72954860	72954861	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr15:72954860_72954861delAG	ENST00000421285.3	+	11	1115_1116	c.1115_1116delAG	c.(1114-1116)afs	p.K372fs		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	372										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GAGCAGCAGAAGACGCTACAGG	0.599													44	60	---	---	---	---					
GRIN2A	2903	broad.mit.edu	37	16	9857702	9857702	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:9857702delG	ENST00000396573.2	-	14	4008	c.3699delC	c.(3697-3699)ccfs	p.P1233fs	GRIN2A_ENST00000404927.2_Frame_Shift_Del_p.P1233fs|GRIN2A_ENST00000562109.1_Frame_Shift_Del_p.P1233fs|GRIN2A_ENST00000535259.1_Frame_Shift_Del_p.P1076fs|GRIN2A_ENST00000330684.3_Frame_Shift_Del_p.P1233fs|GRIN2A_ENST00000396575.2_Frame_Shift_Del_p.P1233fs	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1233					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGCACTTGAAGGGGGACCTCA	0.577													36	113	---	---	---	---					
ZFP90	146198	broad.mit.edu	37	16	68597050	68597051	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr16:68597050_68597051insT	ENST00000570495.1	+	5	652_653	c.360_361insT	c.(358-363)tcgggafs	p.SG120fs	ZFP90_ENST00000398253.2_Frame_Shift_Ins_p.SG120fs|RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000563169.2_Frame_Shift_Ins_p.SG120fs			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	120					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		TAGAAGACTCCTGGGATGTTAG	0.446													17	42	---	---	---	---					
KIAA0195	9772	broad.mit.edu	37	17	73490997	73490997	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:73490997delC	ENST00000314256.7	+	20	3004	c.2610delC	c.(2608-2610)ggfs	p.G870fs	KIAA0195_ENST00000375248.5_Frame_Shift_Del_p.G880fs|KIAA0195_ENST00000579208.1_Frame_Shift_Del_p.G521fs	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	870					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AAAAAATGGGCCTGGAGACAG	0.597													52	207	---	---	---	---					
RPTOR	57521	broad.mit.edu	37	17	78599530	78599531	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr17:78599530_78599531insT	ENST00000306801.3	+	2	564_565	c.202_203insT	c.(202-204)tggfs	p.W68fs	RPTOR_ENST00000570891.1_Frame_Shift_Ins_p.W68fs|RPTOR_ENST00000544334.2_Frame_Shift_Ins_p.W68fs|RPTOR_ENST00000537330.1_5'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	68					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			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GTGCCTGAATGTTGGTGTGGAC	0.460													69	292	---	---	---	---					
LIPG	9388	broad.mit.edu	37	18	47093908	47093909	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:47093908_47093909insT	ENST00000261292.4	+	3	654_655	c.376_377insT	c.(376-378)ggcfs	p.G126fs	LIPG_ENST00000580036.1_Frame_Shift_Ins_p.G126fs|LIPG_ENST00000427224.2_Frame_Shift_Ins_p.G126fs|LIPG_ENST00000577628.1_Frame_Shift_Ins_p.G162fs	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	126					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CTGGCTCCCCCTGGCCCACCAG	0.554													21	98	---	---	---	---					
GRP	2922	broad.mit.edu	37	18	56892864	56892864	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr18:56892864delA	ENST00000256857.2	+	2	378	c.280delA	c.(280-282)gafs	p.R94fs	GRP_ENST00000529320.2_Frame_Shift_Del_p.R94fs|GRP_ENST00000420468.2_Frame_Shift_Del_p.R94fs	NM_001012512.1|NM_002091.3	NP_001012530.1|NP_002082.2	P07492	GRP_HUMAN	gastrin-releasing peptide	94					neuropeptide signaling pathway	extracellular space	neuropeptide hormone activity			large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				AAAGGAGAACAGAAACCACCA	0.507													21	89	---	---	---	---					
CLASRP	11129	broad.mit.edu	37	19	45567607	45567609	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:45567607_45567609delCTC	ENST00000544944.2	+	12	1820_1822	c.1128_1130delCTC	c.(1126-1131)cgc>cg	p.RS376del	CLASRP_ENST00000221455.3_In_Frame_Del_p.RS376del|CLASRP_ENST00000391953.4_In_Frame_Del_p.RS314del			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	376	Arg-rich.				mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GCAGCCGCCGctcctcctcctcc	0.744													4	4	---	---	---	---					
ZNF761	388561	broad.mit.edu	37	19	53952814	53952814	+	RNA	DEL	G	G	-			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:53952814delG	ENST00000454407.1	+	0	518							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CAGGAGGAGTGGAAATGCCTG	0.463													23	58	---	---	---	---					
ZNF813	126017	broad.mit.edu	37	19	53989935	53989935	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr19:53989935delG	ENST00000396403.4	+	3	193	c.65delG	c.(64-66)tgfs	p.W22fs	ZNF813_ENST00000396421.4_Frame_Shift_Del_p.W22fs	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	22	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CAGGAGGAGTGGAAATGCCTG	0.458													9	174	---	---	---	---					
COL20A1	57642	broad.mit.edu	37	20	61939336	61939336	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr20:61939336delC	ENST00000422202.1	+	6	758	c.690delC	c.(688-690)tafs	p.Y230fs	COL20A1_ENST00000435874.1_Frame_Shift_Del_p.Y230fs|COL20A1_ENST00000358894.6_Frame_Shift_Del_p.Y223fs|COL20A1_ENST00000326996.6_Frame_Shift_Del_p.Y223fs			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	223	VWFA.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TGACTCAGTACAGCGGGGATG	0.632													15	104	---	---	---	---					
MIR3648-1	100500862	broad.mit.edu	37	21	9825840	9825841	+	RNA	INS	-	-	GGA			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr21:9825840_9825841insGGA	ENST00000581792.1	+	0	9_10					NR_037421.1																						gccgcgactgcggcggcggtgg	0.842													2	4	---	---	---	---					
APOL2	23780	broad.mit.edu	37	22	36629240	36629240	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:36629240delC	ENST00000451256.2	-	4	313	c.305delG	c.(304-306)gafs	p.G102fs	APOL2_ENST00000249066.6_5'UTR|APOL2_ENST00000358502.5_5'UTR			Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	0					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						GAGGGGCTTTCCTTGGAGCTC	0.542													34	128	---	---	---	---					
APOL1	8542	broad.mit.edu	37	22	36653416	36653416	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:36653416delG	ENST00000319136.4	+	5	465	c.198delG	c.(196-198)aafs	p.K66fs	APOL1_ENST00000347595.7_Intron|APOL1_ENST00000440669.2_Frame_Shift_Del_p.K50fs|APOL1_ENST00000426053.1_Frame_Shift_Del_p.K32fs|APOL1_ENST00000397279.4_Frame_Shift_Del_p.K50fs|APOL1_ENST00000397278.3_Frame_Shift_Del_p.K50fs|APOL1_ENST00000422706.1_Frame_Shift_Del_p.K50fs	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	50					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						CTCAAAGTAAGCCCCTCGGTG	0.547													35	191	---	---	---	---					
ZC3H7B	23264	broad.mit.edu	37	22	41735040	41735041	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-8073-01A-11D-2238-08	TCGA-86-8073-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7268ee3-2840-467c-9e11-8e269ccc60a8	653e6401-123b-4136-b07b-26c50359235e	g.chr22:41735040_41735041insT	ENST00000352645.4	+	9	918_919	c.661_662insT	c.(661-663)cccfs	p.P221fs	ZC3H7B_ENST00000351589.4_Frame_Shift_Ins_p.P221fs	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	237					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCCAGCCCTTCTCCCCTCCACG	0.683													166	554	---	---	---	---					
