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
PPP2R1A	5518	broad.mit.edu	37	19	52725455	52725455	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:52725455C>G	ENST00000322088.6	+	13	1680	c.1622C>G	c.(1621-1623)gCc>gGc	p.A541G	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.A486G|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.A362G	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	541	PP2A subunit C binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TTCAATGTGGCCAAGTCTCTG	0.577000			Mis		clear cell ovarian carcinoma								23	53					0	0	0.002299	0	0
FMR1	2332	broad.mit.edu	37	X	147026523	147026523	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:147026523G>A	ENST00000218200.8	+	14	1772	c.1543G>A	c.(1543-1545)Ggg>Agg	p.G515R	FMR1_ENST00000370470.1_Missense_Mutation_p.G511R|FMR1_ENST00000370471.3_Silent_p.E445E|FMR1_ENST00000439526.2_Missense_Mutation_p.G513R|FMR1_ENST00000370477.1_Missense_Mutation_p.G503R|FMR1_ENST00000370475.4_Missense_Mutation_p.G536R|FMR1_ENST00000440235.2_Missense_Mutation_p.G183R	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	536	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					GCGGCGTggagggggaggaag	0.507000									Fragile X syndrome				24	8					0	0	0.002780	0	0
KRT31	3881	broad.mit.edu	37	17	39553206	39553206	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:39553206C>A	ENST00000251645.2	-	2	442	c.390G>T	c.(388-390)caG>caT	p.Q130H		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	130	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CGTTGTCGATCTGCACCACAA	0.428000													29	30					3.90053e-15	6.11154e-15	0.002445	1	0
EYA4	2070	broad.mit.edu	37	6	133833917	133833917	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:133833917G>T	ENST00000367895.5	+	15	1804	c.1340_splice	c.e15+1	p.S447_splice	EYA4_ENST00000452339.2_Splice_Site_p.S393_splice|EYA4_ENST00000355167.3_Splice_Site_p.S447_splice|EYA4_ENST00000430974.2_Splice_Site_p.S399_splice|EYA4_ENST00000531901.1_Splice_Site_p.S453_splice|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000431403.2_Splice_Site_p.S447_splice|EYA4_ENST00000525849.1_Splice_Site_p.S424_splice|EYA4_ENST00000355286.6_Splice_Site_p.S424_splice	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	447					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CAGGACTTAAGGTAAGCTATG	0.338000													46	13					8.04919e-23	1.49984e-22	0.003610	1	0
CFHR3	10878	broad.mit.edu	37	1	196748352	196748352	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:196748352G>C	ENST00000471440.2	+	2	193	c.119G>C	c.(118-120)aGa>aCa	p.R40T	CFHR3_ENST00000367425.4_Missense_Mutation_p.R40T|CFHR3_ENST00000391985.3_Missense_Mutation_p.R40T					complement factor H-related 3											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						AATATGCGTAGACCATACTTT	0.323000													27	36					0	0	0.006320	0	0
GRIA3	2892	broad.mit.edu	37	X	122551485	122551485	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:122551485C>A	ENST00000264357.5	+	11	2025	c.1733C>A	c.(1732-1734)cCt>cAt	p.P578H	GRIA3_ENST00000371256.5_Missense_Mutation_p.P578H|GRIA3_ENST00000542149.1_Missense_Mutation_p.P578H|GRIA3_ENST00000541091.1_Missense_Mutation_p.P562H|GRIA3_ENST00000371251.1_Missense_Mutation_p.P578H	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	578					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	AGGTTCAGTCCTTATGAATGG	0.418000													102	233					5.10254e-61	1.1183e-60	0.003610	1	0
PTPRD	5789	broad.mit.edu	37	9	8319965	8319965	+	Splice_Site	SNP	C	C	T	rs141403124	by1000genomes	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:8319965C>T	ENST00000381196.4	-	42	6079	c.5534_splice	c.e42-1	p.A1846_splice	PTPRD_ENST00000397606.3_Splice_Site_p.A1439_splice|PTPRD_ENST00000397611.3_Splice_Site_p.A1436_splice|PTPRD_ENST00000397617.3_Splice_Site_p.A1439_splice|PTPRD_ENST00000540109.1_Splice_Site_p.A1846_splice|PTPRD_ENST00000537002.1_Splice_Site_p.A1436_splice|PTPRD_ENST00000358503.5_Splice_Site_p.A1824_splice|PTPRD_ENST00000360074.4_Splice_Site_p.A1833_splice|PTPRD_ENST00000486161.1_Splice_Site_p.A1439_splice|PTPRD_ENST00000356435.5_Splice_Site_p.A1846_splice|PTPRD_ENST00000355233.5_Splice_Site_p.A1440_splice	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1846	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)		CCAACGCCCGCGCTGCCACAA	0.453000										TSP Lung(15;0.13)			13	16					0	0	0.001855	0	0
SYNRG	11276	broad.mit.edu	37	17	35945436	35945436	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:35945436G>T	ENST00000339208.6	-	5	614	c.474C>A	c.(472-474)ccC>ccA	p.P158P	SYNRG_ENST00000591288.1_Silent_p.P158P|SYNRG_ENST00000585472.1_Silent_p.P157P|SYNRG_ENST00000502449.2_Silent_p.P158P|SYNRG_ENST00000394378.2_Silent_p.P158P|SYNRG_ENST00000346661.4_Silent_p.P158P|SYNRG_ENST00000345615.4_Silent_p.P158P	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	158					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						ATACTACCTTGGGTTTCACAC	0.443000													35	112					1.90571e-15	3.02609e-15	0.004289	1	0
NPAP1	23742	broad.mit.edu	37	15	24924332	24924332	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:24924332C>A	ENST00000329468.2	+	1	3792	c.3318C>A	c.(3316-3318)ggC>ggA	p.G1106G		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GAGGGGATGGCACCAGATCCA	0.488000													32	56					2.81731e-10	3.81562e-10	0.002096	1	0
ITPKC	80271	broad.mit.edu	37	19	41223332	41223332	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:41223332G>C	ENST00000263370.2	+	1	325	c.292G>C	c.(292-294)Gcg>Ccg	p.A98P		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	98						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GACTGAGCCCGCGGCAGCTGG	0.652000													26	20					0	0	0.004656	0	0
ATRX	546	broad.mit.edu	37	X	76938803	76938803	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:76938803C>A	ENST00000373344.5	-	9	2159	c.1945G>T	c.(1945-1947)Gag>Tag	p.E649*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.E611*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	649					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)	TCAGATTCCTCTAAAAGTAAT	0.393000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						199	142					2.00895e-71	4.4372e-71	0.003610	1	0
NWD1	284434	broad.mit.edu	37	19	16925938	16925938	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:16925938G>T	ENST00000552788.1	+	18	4493	c.4493G>T	c.(4492-4494)cGa>cTa	p.R1498L	NWD1_ENST00000549814.1_Missense_Mutation_p.R1456L|NWD1_ENST00000524140.2_3'UTR|NWD1_ENST00000379808.3_3'UTR|NWD1_ENST00000339803.6_Missense_Mutation_p.R1363L|NWD1_ENST00000523826.1_Missense_Mutation_p.R1292L			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1498							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						TATCTGATCCGAGAGAATTTC	0.517000													17	8					1.02788e-11	1.47375e-11	0.004990	1	0
GCK	2645	broad.mit.edu	37	7	44192931	44192931	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:44192931G>A	ENST00000403799.3	-	2	646	c.177C>T	c.(175-177)ccC>ccT	p.P59P	GCK_ENST00000345378.2_Silent_p.P60P|GCK_ENST00000395796.3_Silent_p.P58P|GCK_ENST00000437084.1_Silent_p.P59P	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	59					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GCACGTAGGTGGGCAGCATCT	0.607000													41	34					0	0	0.006230	0	0
SH3RF3	344558	broad.mit.edu	37	2	110065636	110065636	+	Silent	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:110065636T>A	ENST00000309415.6	+	8	1839	c.1839T>A	c.(1837-1839)tcT>tcA	p.S613S		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	613							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CTGCCCACTCTGCAGCCCAGG	0.642000													19	3					0	0	0.002299	0	0
RGS12	6002	broad.mit.edu	37	4	3432304	3432304	+	Missense_Mutation	SNP	G	G	C	rs150739035		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:3432304G>C	ENST00000336727.3	+	17	4640	c.3736G>C	c.(3736-3738)Gcc>Ccc	p.A1246P	RGS12_ENST00000382788.3_Missense_Mutation_p.A1246P|RGS12_ENST00000344733.5_Missense_Mutation_p.A1246P|RGS12_ENST00000338806.4_Missense_Mutation_p.A598P|RGS12_ENST00000306648.7_3'UTR|RGS12_ENST00000538395.1_3'UTR	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1246						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAAGAGAAGCGCCACAGGCAA	0.652000													12	5					0	0	0.000978	0	0
FGD5	152273	broad.mit.edu	37	3	14862037	14862037	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:14862037G>T	ENST00000285046.5	+	1	1569	c.1459G>T	c.(1459-1461)Ggg>Tgg	p.G487W	FGD5_ENST00000543601.1_Missense_Mutation_p.G246W	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	487					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						GCCCCACTCTGGGAAGGTGGC	0.632000													32	7					3.11337e-16	5.04545e-16	0.002836	1	0
CCDC135	84229	broad.mit.edu	37	16	57741492	57741492	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:57741492A>T	ENST00000360716.3	+	8	1200	c.979A>T	c.(979-981)Agc>Tgc	p.S327C	CCDC135_ENST00000336825.8_Missense_Mutation_p.S262C|CCDC135_ENST00000394337.4_Missense_Mutation_p.S327C			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	327						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CACAGGACATAGCTACAGCAC	0.567000													24	22					0	0	0.002299	0	0
CHD5	26038	broad.mit.edu	37	1	6214763	6214763	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:6214763G>A	ENST00000262450.3	-	5	801	c.702C>T	c.(700-702)ccC>ccT	p.P234P	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	234					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)		GCACAGGCTGGGGCACCTGCG	0.682000													19	2					0	0	0.007413	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117774772	117774772	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:117774772C>A	ENST00000528626.1	-	10	1394	c.1321G>T	c.(1321-1323)Gac>Tac	p.D441Y	TMPRSS13_ENST00000430170.2_Missense_Mutation_p.D476Y|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.D476Y|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.D476Y	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	471	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.D476N(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		TTCTTGAAGTCGATGAGATTG	0.527000													3	18					0.00024832	0.000272116	0.009096	1	0
NPY1R	4886	broad.mit.edu	37	4	164246718	164246718	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:164246718G>C	ENST00000296533.2	-	3	1423	c.892C>G	c.(892-894)Cac>Gac	p.H298D	NPY1R_ENST00000509586.1_Missense_Mutation_p.H55D	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	298					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AACAGATTGTGGTTGCAGGTA	0.443000													27	6					0	0	0.004656	0	0
COLEC12	81035	broad.mit.edu	37	18	346949	346949	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:346949G>A	ENST00000400256.3	-	5	880	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	225					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TCCACAGACCGCTGCAGATTC	0.478000													29	65					0	0	0.009535	0	0
NIPAL4	348938	broad.mit.edu	37	5	156899633	156899633	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:156899633G>T	ENST00000311946.7	+	6	1182	c.1066G>T	c.(1066-1068)Gtg>Ttg	p.V356L	NIPAL4_ENST00000435489.2_Missense_Mutation_p.V337L|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	356						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CACTTCCCTGGTGTTCCCCAT	0.542000											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	13					7.26314e-15	1.12559e-14	0.007291	1	0
FSIP2	401024	broad.mit.edu	37	2	186672738	186672738	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:186672738C>A	ENST00000343098.5	+	17	18972	c.18972C>A	c.(18970-18972)acC>acA	p.T6324T	FSIP2_ENST00000424728.1_Silent_p.T6235T	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TACCACCCACCAAGGAATCAC	0.328000													22	1					5.35047e-06	6.26504e-06	0.003330	1	0
MUC17	140453	broad.mit.edu	37	7	100678238	100678238	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:100678238T>A	ENST00000306151.4	+	3	3605	c.3541T>A	c.(3541-3543)Tca>Aca	p.S1181T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1181	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TAACACCCTTTCAACAACTCC	0.527000													285	438					0	0	0.003610	0	0
LAYN	143903	broad.mit.edu	37	11	111414669	111414669	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:111414669G>T	ENST00000375614.2	+	2	443	c.107G>T	c.(106-108)gGg>gTg	p.G36V	LAYN_ENST00000375615.3_Missense_Mutation_p.G44V|LAYN_ENST00000528924.1_3'UTR|LAYN_ENST00000525126.1_Missense_Mutation_p.G44V|LAYN_ENST00000436913.2_5'UTR|LAYN_ENST00000533265.1_Missense_Mutation_p.G36V	NM_178834.4	NP_849156.1	Q6UX15	LAYN_HUMAN	layilin	44						cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		TGCCGGGGAGGGACACAGAGG	0.493000													9	43					5.4927e-09	7.11293e-09	0.004482	1	0
TGM7	116179	broad.mit.edu	37	15	43577146	43577146	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:43577146C>G	ENST00000452443.2	-	7	874	c.870G>C	c.(868-870)atG>atC	p.M290I		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	290					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CTAAGCATCTCATTACTAAAG	0.413000													15	16					0	0	0.002450	0	0
TAF9B	51616	broad.mit.edu	37	X	77387130	77387130	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:77387130C>A	ENST00000341864.5	-	7	827	c.733G>T	c.(733-735)Gat>Tat	p.D245Y		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	245	Poly-Asp.				negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						TTGTCATCATCATCTTCATGT	0.358000													105	87					6.17869e-53	1.34791e-52	0.003610	1	0
MAGED2	10916	broad.mit.edu	37	X	54838685	54838685	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:54838685G>T	ENST00000375068.1	+	7	1318		c.e7+1		MAGED2_ENST00000375062.4_Splice_Site|MAGED2_ENST00000347546.3_Splice_Site|MAGED2_ENST00000396224.1_Splice_Site|MAGED2_ENST00000375060.1_Splice_Site|MAGED2_ENST00000218439.4_Splice_Site|MAGED2_ENST00000343474.6_Splice_Site|MAGED2_ENST00000375058.1_Splice_Site|MAGED2_ENST00000375053.2_Splice_Site			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						TACTGGGAACGTAAGCTGGGA	0.493000													11	4					1.58986e-06	1.89607e-06	0.008291	1	0
ERN2	10595	broad.mit.edu	37	16	23718351	23718351	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:23718351C>A	ENST00000256797.4	-	5	668	c.500G>T	c.(499-501)aGc>aTc	p.S167I	ERN2_ENST00000457008.2_Missense_Mutation_p.S119I	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	119					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCCATCAGAGCTGCGGCAGGG	0.542000													14	15					2.31682e-05	2.63876e-05	0.003163	1	0
NEB	4703	broad.mit.edu	37	2	152534533	152534533	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:152534533C>A	ENST00000397345.3	-	33	3626	c.3424G>T	c.(3424-3426)Gat>Tat	p.D1142Y	NEB_ENST00000409198.1_Missense_Mutation_p.D1142Y|NEB_ENST00000604864.1_Missense_Mutation_p.D1142Y|NEB_ENST00000427231.2_Missense_Mutation_p.D1142Y|NEB_ENST00000603639.1_Missense_Mutation_p.D1142Y|NEB_ENST00000172853.10_Missense_Mutation_p.D1142Y	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1142					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)		TTGAACATATCATGGGGCGTG	0.433000													37	11					1.49673e-21	2.73854e-21	0.006230	1	0
CCDC13	152206	broad.mit.edu	37	3	42754701	42754701	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:42754701G>T	ENST00000310232.6	-	14	1909	c.1826C>A	c.(1825-1827)cCa>cAa	p.P609Q		NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	609										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TGCCTTCCCTGGCTCCAGGCG	0.612000													22	7					2.89027e-11	4.06991e-11	0.002299	1	0
COL11A1	1301	broad.mit.edu	37	1	103347291	103347291	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:103347291G>T	ENST00000358392.2	-	65	5355	c.5038C>A	c.(5038-5040)Cca>Aca	p.P1680T	COL11A1_ENST00000353414.4_Missense_Mutation_p.P1629T|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1552T|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1668T	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1668	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAACTTCCTGGTTTCTCCTTT	0.328000													17	4					1.00905e-13	1.52378e-13	0.008871	1	0
IL1R1	3554	broad.mit.edu	37	2	102792910	102792910	+	Silent	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:102792910A>T	ENST00000410023.1	+	12	1719	c.1401A>T	c.(1399-1401)tcA>tcT	p.S467S	IL1R1_ENST00000424272.1_3'UTR|IL1R1_ENST00000233946.3_Silent_p.S467S|IL1R1_ENST00000409589.1_Intron|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409929.1_Silent_p.S436S			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	467	TIR.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	TGGGTGGTTCATCTGAAGAGC	0.398000													25	5					0	0	0.004656	0	0
CDX4	1046	broad.mit.edu	37	X	72673480	72673480	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:72673480G>T	ENST00000373514.2	+	2	630	c.630G>T	c.(628-630)ctG>ctT	p.L210L		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	210						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					CAGTTAACCTGGGCCTTTCCG	0.398000													20	12					1.01871e-10	1.40793e-10	0.008871	1	0
PCIF1	63935	broad.mit.edu	37	20	44574995	44574995	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:44574995G>A	ENST00000372409.3	+	14	1949	c.1585G>A	c.(1585-1587)Gac>Aac	p.D529N	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	529						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						TGCCTTCCCCGACACAGACGG	0.637000													32	62					0	0	0.002445	0	0
RPH3A	22895	broad.mit.edu	37	12	113303256	113303256	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:113303256G>T	ENST00000389385.4	+	6	765	c.268G>T	c.(268-270)Gtg>Ttg	p.V90L	RPH3A_ENST00000415485.3_Missense_Mutation_p.V90L|RPH3A_ENST00000447659.2_Missense_Mutation_p.V41L|RPH3A_ENST00000543106.2_Missense_Mutation_p.V90L|RPH3A_ENST00000420983.2_Missense_Mutation_p.V90L|RPH3A_ENST00000548866.1_Missense_Mutation_p.V41L|RPH3A_ENST00000551052.1_Missense_Mutation_p.V86L	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	90	RabBD.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GAGGAAGAACGTGGCTGGAGA	0.537000													45	27					1.48734e-19	2.63301e-19	0.003214	1	0
UBE2Q2	92912	broad.mit.edu	37	15	76152291	76152291	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:76152291G>C	ENST00000267938.4	+	3	737	c.355G>C	c.(355-357)Gag>Cag	p.E119Q	UBE2Q2_ENST00000569423.1_Intron|UBE2Q2_ENST00000561851.1_Missense_Mutation_p.E103Q|UBE2Q2_ENST00000338677.4_Missense_Mutation_p.E119Q	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	119					protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						CCTGGATGTTGAGATGCTAGA	0.378000													9	16					0	0	0.008291	0	0
PTGS1	5742	broad.mit.edu	37	9	125154553	125154553	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:125154553G>A	ENST00000362012.2	+	11	1535	c.1530G>A	c.(1528-1530)aaG>aaA	p.K510K	PTGS1_ENST00000373698.5_Silent_p.K401K|PTGS1_ENST00000223423.4_Silent_p.K473K|PTGS1_ENST00000540753.1_Silent_p.K448K	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	510					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	TTCTTGAAAAGTGCCATCCAA	0.483000													34	53					0	0	0.002836	0	0
XIRP2	129446	broad.mit.edu	37	2	168104538	168104538	+	Silent	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:168104538T>C	ENST00000409195.1	+	9	6725	c.6636T>C	c.(6634-6636)ctT>ctC	p.L2212L	XIRP2_ENST00000409273.1_Silent_p.L1990L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L2212L|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2037					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						TGTGGCAGCTTTTGCCTGTAG	0.353000													29	4					0	0	0.006320	0	0
PALLD	23022	broad.mit.edu	37	4	169589501	169589501	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:169589501G>T	ENST00000261509.6	+	3	1280	c.1069G>T	c.(1069-1071)Gct>Tct	p.A357S	PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000505667.1_Missense_Mutation_p.A357S|PALLD_ENST00000333488.4_Missense_Mutation_p.A234S|PALLD_ENST00000512127.1_5'UTR	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	357	Ig-like C2-type 1.				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)		CACAACATCTGCTGAGGTGTT	0.527000									Pancreatic Cancer, Familial Clustering of				37	14					1.96642e-18	3.39219e-18	0.006999	1	0
ASB4	51666	broad.mit.edu	37	7	95157649	95157649	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:95157649A>G	ENST00000428113.1	+	3	1083	c.1012A>G	c.(1012-1014)Aag>Gag	p.K338E	ASB4_ENST00000325885.5_Intron	NM_145872.2	NP_665879.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	0					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CAGGTTGAGGAAGATTCAAAT	0.507000											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	27					0	0	0.003163	0	0
ZNF831	128611	broad.mit.edu	37	20	57768079	57768079	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:57768079G>T	ENST00000371030.2	+	1	2005	c.2005G>T	c.(2005-2007)Ggc>Tgc	p.G669C		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	669						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)					AGGGAGCTCAGGCACAGTCCC	0.622000													19	22					1.67942e-08	2.13771e-08	0.006122	1	0
OR2T35	403244	broad.mit.edu	37	1	248801912	248801912	+	Silent	SNP	C	C	G	rs146851066	by1000genomes	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:248801912C>G	ENST00000317450.3	-	1	647	c.648G>C	c.(646-648)gtG>gtC	p.V216V		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V216V(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCGTGTAGGACACAGAGATGA	0.542000													3	62					0	0	0.009096	0	0
KLK3	354	broad.mit.edu	37	19	51359527	51359527	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:51359527G>T	ENST00000360617.3	+	2	78	c.78G>T	c.(76-78)gtG>gtT	p.V26V	KLK3_ENST00000326003.2_Silent_p.V26V|KLK3_ENST00000593997.1_Silent_p.V26V|KLK3_ENST00000595952.1_Silent_p.V26V|KLK3_ENST00000597483.1_Silent_p.V26V			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	26	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CTCGGATTGTGGGAGGCTGGG	0.627000													64	53					1.72039e-30	3.495e-30	0.003610	1	0
AGAP3	116988	broad.mit.edu	37	7	150815701	150815701	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:150815701G>T	ENST00000397238.2	+	7	951	c.951G>T	c.(949-951)ccG>ccT	p.P317P	AGAP3_ENST00000463381.1_Silent_p.P89P|AGAP3_ENST00000473312.1_Silent_p.P317P|AGAP3_ENST00000335367.3_Silent_p.P497P|AGAP3_ENST00000479901.1_Silent_p.P317P	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	281	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CCTCCATCCCGGCCGTGCACA	0.657000													28	38					1.99505e-19	3.51864e-19	0.002445	1	0
DLGAP4	22839	broad.mit.edu	37	20	35060954	35060954	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:35060954C>A	ENST00000373913.3	+	3	1314	c.834C>A	c.(832-834)ccC>ccA	p.P278P	DLGAP4_ENST00000373907.2_Silent_p.P278P|DLGAP4_ENST00000401952.2_Silent_p.P278P|DLGAP4_ENST00000339266.5_Silent_p.P278P			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	278					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)				CCACCTGCCCCAGCCTTGGGG	0.627000													13	9					7.03913e-09	9.0906e-09	0.001368	1	0
FAM227B	196951	broad.mit.edu	37	15	49800546	49800546	+	Splice_Site	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:49800546C>T	ENST00000299338.6	-	11	1178		c.e11-1		FAM227B_ENST00000561064.1_Splice_Site	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		GGTTTTAAACCTGTTAATATA	0.299000													14	31					0	0	0.003163	0	0
EBI3	10148	broad.mit.edu	37	19	4233293	4233293	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:4233293C>A	ENST00000221847.5	+	3	421	c.368C>A	c.(367-369)aCa>aAa	p.T123K		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	123	Fibronectin type-III 1.				humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTTCATAACAGAGCACATC	0.657000													9	2					1.76689e-08	2.24503e-08	0.006214	1	0
PARD3B	117583	broad.mit.edu	37	2	206165394	206165394	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:206165394G>T	ENST00000406610.2	+	17	2533	c.2326G>T	c.(2326-2328)Ggc>Tgc	p.G776C	PARD3B_ENST00000358768.2_Missense_Mutation_p.G714C|PARD3B_ENST00000462231.1_Missense_Mutation_p.G776C|PARD3B_ENST00000351153.1_Intron|PARD3B_ENST00000349953.3_Missense_Mutation_p.G776C	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	776					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)		TCGAGGCCGAGGCTGCAATGA	0.517000													62	14					1.63578e-51	3.56304e-51	0.003610	1	0
LRIT1	26103	broad.mit.edu	37	10	85992169	85992169	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:85992169G>T	ENST00000372105.3	-	4	1407	c.1386C>A	c.(1384-1386)ctC>ctA	p.L462L		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	462	Fibronectin type-III.					integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						AGACCGCGTAGAGGACACTGA	0.577000													4	16					0.00024832	0.000272116	0.009096	1	0
AFF2	2334	broad.mit.edu	37	X	147743550	147743550	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:147743550C>A	ENST00000370460.2	+	3	781	c.302C>A	c.(301-303)tCt>tAt	p.S101Y	AFF2_ENST00000370458.1_Missense_Mutation_p.S97Y|AFF2_ENST00000342251.3_Missense_Mutation_p.S97Y|AFF2_ENST00000370457.5_Missense_Mutation_p.S97Y	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	101					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCAAAGAATTCTGTGCCCCAG	0.403000													270	110					2.256e-115	5.022e-115	0.003610	1	0
FSTL4	23105	broad.mit.edu	37	5	132552942	132552942	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:132552942G>C	ENST00000265342.7	-	13	1836	c.1587C>G	c.(1585-1587)atC>atG	p.I529M	CTB-49A3.2_ENST00000502776.1_RNA|CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	529						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTGGGCTTGGATGTCGACCA	0.517000													20	7					0	0	0.002299	0	0
ANO5	203859	broad.mit.edu	37	11	22294524	22294524	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:22294524G>A	ENST00000324559.8	+	19	2541	c.2224G>A	c.(2224-2226)Gtt>Att	p.V742I	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	742						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						TGTCCTTTCTGTTGCAACTAA	0.413000													24	51					0	0	0.005443	0	0
CABLES1	91768	broad.mit.edu	37	18	20716526	20716526	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:20716526G>T	ENST00000256925.7	+	1	800	c.800G>T	c.(799-801)gGc>gTc	p.G267V	CABLES1_ENST00000400473.2_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	267	Interacts with CDK3 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAGCAGCCAGGCCAGGGCGGC	0.682000													12	11					6.72482e-11	9.34882e-11	0.003163	1	0
TUBA1B	10376	broad.mit.edu	37	12	49521984	49521984	+	Silent	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:49521984T>C	ENST00000336023.5	-	4	1207	c.1113A>G	c.(1111-1113)gtA>gtG	p.V371V	RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	371					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						CAGCTCTCTGTACCTTGGCCA	0.577000													22	7					0	0	0.005443	0	0
OR8D1	283159	broad.mit.edu	37	11	124179963	124179963	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:124179963G>T	ENST00000357821.2	-	1	770	c.700C>A	c.(700-702)Cgg>Agg	p.R234R		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GCTTTGGACCGGCCCTCTGAG	0.502000													20	14					5.35267e-07	6.47066e-07	0.007413	1	0
TMEM31	203562	broad.mit.edu	37	X	102968923	102968923	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:102968923C>A	ENST00000319560.6	+	3	695	c.504C>A	c.(502-504)ttC>ttA	p.F168L	GLRA4_ENST00000372617.4_Intron	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	168						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						tgatcttcttctgattctttt	0.368000													8	7					1.06961e-07	1.33162e-07	0.003080	1	0
RPTN	126638	broad.mit.edu	37	1	152128814	152128814	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:152128814C>T	ENST00000316073.3	-	3	825	c.761G>A	c.(760-762)gGa>gAa	p.G254E		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	254	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						AGAGGCTTGTCCAAGTGTTTC	0.428000													88	145					0	0	0.003610	0	0
CCL28	56477	broad.mit.edu	37	5	43388480	43388480	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:43388480C>G	ENST00000361115.4	-	2	237	c.163G>C	c.(163-165)Gat>Cat	p.D55H	CCL28_ENST00000537013.1_Missense_Mutation_p.D55H|CCL28_ENST00000513525.1_Missense_Mutation_p.D8H	NM_148672.2	NP_683513.1	Q9NRJ3	CCL28_HUMAN	chemokine (C-C motif) ligand 28	55					chemotaxis|immune response	extracellular space	chemokine activity			kidney(3)|lung(3)|ovary(1)	7						CAATCCCCATCAGCTCTCTGG	0.498000													16	21					0	0	0.006122	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049210	42049210	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:42049210C>A	ENST00000372584.1	-	3	2273	c.1259G>T	c.(1258-1260)gGc>gTc	p.G420V	HIVEP3_ENST00000247584.5_Missense_Mutation_p.G420V|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G420V|HIVEP3_ENST00000372583.1_Missense_Mutation_p.G420V	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	420	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)				CCCACACTTGCCAAAGATGAT	0.612000													21	5					7.45023e-12	1.07144e-11	0.010504	1	0
ZNF786	136051	broad.mit.edu	37	7	148769333	148769333	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:148769333C>A	ENST00000316286.9	-	3	545	c.273G>T	c.(271-273)tgG>tgT	p.W91C	ZNF786_ENST00000491431.1_Missense_Mutation_p.W177C|ZNF786_ENST00000451334.3_Missense_Mutation_p.W140C			Q8N393	ZN786_HUMAN	zinc finger protein 786	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CGGGGACGTCCCACAAACCAG	0.577000													12	1					1.08611e-07	1.34624e-07	0.000978	1	0
GMPPA	29926	broad.mit.edu	37	2	220371037	220371037	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:220371037G>C	ENST00000358215.3	+	12	1424	c.1055G>C	c.(1054-1056)cGc>cCc	p.R352P	GMPPA_ENST00000313597.5_Missense_Mutation_p.R352P|GMPPA_ENST00000341142.3_Missense_Mutation_p.R352P|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373908.1_Missense_Mutation_p.R352P|GMPPA_ENST00000373917.3_Missense_Mutation_p.R405P	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	352					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	p.R352L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CGCTGGGCCCGCGTGGAGGGT	0.627000													47	8					0	0	0.003610	0	0
ERN1	2081	broad.mit.edu	37	17	62126469	62126469	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:62126469C>T	ENST00000433197.2	-	18	2442	c.2347G>A	c.(2347-2349)Gcc>Acc	p.A783T		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	783	Protein kinase.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						AGGATGTTGGCCTGCCGCTGC	0.587000													19	56					0	0	0.008871	0	0
OR4N4	283694	broad.mit.edu	37	15	22382695	22382695	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:22382695T>C	ENST00000328795.4	+	1	314	c.223T>C	c.(223-225)Ttc>Ctc	p.F75L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATCCTACTCCTTCATTGTGGC	0.473000													9	339					0	0	0.003954	0	0
DOCK2	1794	broad.mit.edu	37	5	169267785	169267785	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:169267785G>A	ENST00000256935.8	+	27	2808	c.2728G>A	c.(2728-2730)Gag>Aag	p.E910K	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.E402K	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	910					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)			CCATATCCAGGAGATCATGGT	0.473000													6	4					0	0	0.003080	0	0
OR4K13	390433	broad.mit.edu	37	14	20502144	20502144	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:20502144G>T	ENST00000315693.2	-	1	775	c.774C>A	c.(772-774)taC>taA	p.Y258*		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	258					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)		AGGGCCAGACGTAGATAAAGA	0.403000													12	19					3.07112e-06	3.63206e-06	0.000978	1	0
COL27A1	85301	broad.mit.edu	37	9	117028854	117028854	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:117028854G>T	ENST00000356083.3	+	33	3794	c.3403G>T	c.(3403-3405)Gga>Tga	p.G1135*		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1135	Collagen-like 9.|Pro-rich.|Triple-helical region.				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						GGGCCCTCAGGGACCCCAGGG	0.602000													17	28					2.94398e-08	3.72729e-08	0.007413	1	0
PLXNC1	10154	broad.mit.edu	37	12	94562941	94562941	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:94562941C>A	ENST00000258526.4	+	2	1324	c.1075C>A	c.(1075-1077)Caa>Aaa	p.Q359K	RP11-74K11.2_ENST00000551029.1_RNA|RP11-74K11.2_ENST00000550759.1_RNA	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	359	Sema.				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGAAGGGGATCAACCTGAAAG	0.383000													8	3					0.00307968	0.00327115	0.003080	1	0
BAI3	577	broad.mit.edu	37	6	70064220	70064220	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:70064220G>T	ENST00000370598.1	+	27	4376	c.3555_splice	c.e27+1	p.M1185_splice	BAI3_ENST00000546190.1_Splice_Site_p.M149_splice|BAI3_ENST00000238918.8_Splice_Site_p.M391_splice	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1185					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)				CTCAAATCATGGTGAGTTTTT	0.353000													32	5					6.38683e-12	9.21315e-12	0.008361	1	0
SRD5A1	6715	broad.mit.edu	37	5	6633888	6633888	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:6633888C>G	ENST00000274192.5	+	1	433	c.199C>G	c.(199-201)Ccg>Gcg	p.P67A	SRD5A1_ENST00000504286.1_3'UTR|SRD5A1_ENST00000537411.1_Missense_Mutation_p.C75W|SRD5A1_ENST00000538824.1_Missense_Mutation_p.C75W	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	67				Missing (in Ref. 4; AAF14869).	androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)	GCTGGCCCTGCCGCTCTACCA	0.711000													6	13					0	0	0.001168	0	0
TAAR6	319100	broad.mit.edu	37	6	132891991	132891991	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:132891991G>T	ENST00000275198.1	+	1	531	c.531G>T	c.(529-531)ctG>ctT	p.L177L		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	177						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		ACGATGGGCTGGAGGAATTAT	0.463000													87	10					7.63117e-38	1.61267e-37	0.003610	1	0
DIDO1	11083	broad.mit.edu	37	20	61512609	61512609	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:61512609C>G	ENST00000266070.4	-	16	5024	c.4699G>C	c.(4699-4701)Gcc>Ccc	p.A1567P	DIDO1_ENST00000395343.1_Missense_Mutation_p.A1567P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1567					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTCTCAGTGGCCAGGCGCCTC	0.701000													33	23					0	0	0.002096	0	0
USP29	57663	broad.mit.edu	37	19	57642182	57642182	+	Silent	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:57642182T>C	ENST00000254181.4	+	4	2593	c.2139T>C	c.(2137-2139)aaT>aaC	p.N713N	USP29_ENST00000598197.1_Silent_p.N713N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	713					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGTCCACCAATGGCTTTTATG	0.408000													33	3					0	0	0.002445	0	0
AFF2	2334	broad.mit.edu	37	X	148038108	148038108	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:148038108G>C	ENST00000370460.2	+	11	3012	c.2533G>C	c.(2533-2535)Gag>Cag	p.E845Q	AFF2_ENST00000286437.5_Missense_Mutation_p.E486Q|AFF2_ENST00000342251.3_Missense_Mutation_p.E812Q|AFF2_ENST00000370457.5_Missense_Mutation_p.E812Q	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	845					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CACAGCTGTGGAGAAACCAGC	0.527000													70	45					0	0	0.003610	0	0
DMD	1756	broad.mit.edu	37	X	32827656	32827656	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:32827656G>T	ENST00000357033.4	-	7	809	c.603C>A	c.(601-603)aaC>aaA	p.N201K	DMD_ENST00000288447.4_Missense_Mutation_p.N193K|DMD_ENST00000378677.2_Missense_Mutation_p.N197K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	201	Actin-binding.|CH 2.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATCTGGCGATGTTGAATGCAT	0.408000													17	4					0.000422831	0.00045804	0.004007	1	0
OR4K15	81127	broad.mit.edu	37	14	20444383	20444383	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:20444383C>A	ENST00000305051.5	+	1	781	c.706C>A	c.(706-708)Ctc>Atc	p.L236I		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L236I(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAGTTCCTTTCTCCTCTTGGT	0.463000													34	51					3.86903e-22	7.12504e-22	0.002836	1	0
ADAM2	2515	broad.mit.edu	37	8	39695667	39695667	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:39695667C>A	ENST00000265708.4	-	1	141	c.38G>T	c.(37-39)gGg>gTg	p.G13V	ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000521880.1_Missense_Mutation_p.G13V|ADAM2_ENST00000347580.4_Missense_Mutation_p.G13V|ADAM2_ENST00000379853.2_Missense_Mutation_p.G13V	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	13					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CATCCGCAGCCCGCCGAGCCC	0.572000													6	111					0.00307968	0.00327115	0.003080	1	0
ZRANB3	84083	broad.mit.edu	37	2	135982056	135982056	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:135982056C>A	ENST00000401392.1	-	15	2396	c.2184G>T	c.(2182-2184)gtG>gtT	p.V728V	ZRANB3_ENST00000536680.1_Silent_p.V728V|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000264159.6_Silent_p.V730V			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	730						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		AGGTGTCATACACTGGCAAAG	0.363000													25	5					1.77063e-15	2.81475e-15	0.005443	1	0
SLC6A8	6535	broad.mit.edu	37	X	152959710	152959710	+	Silent	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:152959710C>G	ENST00000253122.5	+	9	1856	c.1380C>G	c.(1378-1380)tcC>tcG	p.S460S	SLC6A8_ENST00000485324.1_3'UTR|SLC6A8_ENST00000430077.2_Silent_p.S345S	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	460					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	TCGATCTCTCCATGGTGACTG	0.622000													139	73					0	0	0.003610	0	0
C7	730	broad.mit.edu	37	5	40979941	40979941	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:40979941G>T	ENST00000313164.9	+	17	2639	c.2280G>T	c.(2278-2280)agG>agT	p.R760S	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	760	Complement control factor I module 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TTACTGGTAGGGACAGCTGTA	0.468000													11	16					9.70103e-10	1.28682e-09	0.008291	1	0
KIAA1210	57481	broad.mit.edu	37	X	118223080	118223080	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:118223080G>T	ENST00000402510.2	-	11	2112	c.2113C>A	c.(2113-2115)Caa>Aaa	p.Q705K		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	705										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AAAGCTTCTTGATCTTCTAAC	0.433000													52	28					1.27334e-21	2.33281e-21	0.003610	1	0
GALNT15	117248	broad.mit.edu	37	3	16242201	16242201	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:16242201T>A	ENST00000339732.5	+	3	1285	c.782T>A	c.(781-783)cTg>cAg	p.L261Q	GALNT15_ENST00000437509.1_Missense_Mutation_p.L261Q	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		AACAAGAGGCTGGGTGCCATC	0.612000													22	12					0	0	0.001882	0	0
ABCC11	85320	broad.mit.edu	37	16	48209260	48209260	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:48209260C>T	ENST00000394747.1	-	25	3956	c.3607G>A	c.(3607-3609)Ggc>Agc	p.G1203S	ABCC11_ENST00000353782.5_Missense_Mutation_p.G1203S|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.G1203S|ABCC11_ENST00000394748.1_Missense_Mutation_p.G1203S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1203	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				ATGTCCACGCCGTCAATGAGA	0.597000													16	26					0	0	0.004990	0	0
ABCG5	64240	broad.mit.edu	37	2	44055222	44055222	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:44055222G>C	ENST00000405322.1	-	4	1187	c.291C>G	c.(289-291)agC>agG	p.S97R	ABCG5_ENST00000260645.1_Missense_Mutation_p.S178R|ABCG5_ENST00000543989.1_5'UTR			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	178	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTGCCACATGGCTCAGACTCA	0.592000													14	19					0	0	0.003163	0	0
MIB1	57534	broad.mit.edu	37	18	19348713	19348713	+	Splice_Site	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:19348713G>A	ENST00000261537.6	+	3	795	c.531_splice	c.e3+1	p.K177_splice	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	177	MIB/HERC2 2.				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)			GTAGGGGAAAGGTACAGTGTT	0.403000													5	10					0	0	0.003080	0	0
PIAS4	51588	broad.mit.edu	37	19	4028941	4028941	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:4028941G>A	ENST00000262971.2	+	7	929	c.814G>A	c.(814-816)Gcc>Acc	p.A272T		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	272	PINIT.				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CTACTCGGTGGCCCTGTACCT	0.672000													6	3					0	0	0.003080	0	0
TRIM29	23650	broad.mit.edu	37	11	119998114	119998114	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:119998114T>G	ENST00000341846.5	-	3	1485	c.1064A>C	c.(1063-1065)aAg>aCg	p.K355T	TRIM29_ENST00000541857.1_Missense_Mutation_p.K88T|TRIM29_ENST00000529044.1_Missense_Mutation_p.K94T	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	355					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		ATGCAGCACCTTGGCTCTCTC	0.562000													12	59					0	0	0.001368	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42436328	42436328	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:42436328C>T	ENST00000397272.3	-	18	2087	c.1996G>A	c.(1996-1998)Gcc>Acc	p.A666T	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.A664T	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	664	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TTGGGGAAGGCGTCCGGGTGT	0.572000													17	24					0	0	0.008871	0	0
COL4A5	1287	broad.mit.edu	37	X	107909782	107909782	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:107909782C>A	ENST00000328300.6	+	39	3755	c.3511C>A	c.(3511-3513)Caa>Aaa	p.Q1171K	COL4A5_ENST00000361603.2_Missense_Mutation_p.Q1171K	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1171	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CAAACCCGGTCAAGATGGTAT	0.443000									Alport syndrome with Diffuse Leiomyomatosis				11	10					2.80697e-09	3.66847e-09	0.000978	1	0
VWF	7450	broad.mit.edu	37	12	6219732	6219732	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:6219732C>G	ENST00000261405.5	-	5	594	c.340G>C	c.(340-342)Gcc>Ccc	p.A114P	VWF_ENST00000572068.1_Missense_Mutation_p.A151P	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	114	VWFD 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCTTTGGAGGCATAGGGCATG	0.532000													24	35					0	0	0.002780	0	0
RIF1	55183	broad.mit.edu	37	2	152320044	152320044	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:152320044G>A	ENST00000243326.4	+	29	4493	c.4010G>A	c.(4009-4011)tGt>tAt	p.C1337Y	RIF1_ENST00000430328.2_Missense_Mutation_p.C1337Y|RIF1_ENST00000428287.2_Missense_Mutation_p.C1337Y|RIF1_ENST00000453091.2_Missense_Mutation_p.C1337Y|RIF1_ENST00000444746.2_Missense_Mutation_p.C1337Y			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1337					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CAAACAGAATGTGTGTCAGAT	0.378000													31	4					0	0	0.008361	0	0
PKD1L2	114780	broad.mit.edu	37	16	81241150	81241150	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:81241150A>T	ENST00000599697.1	-	5	850	c.851T>A	c.(850-852)cTg>cAg	p.L284Q	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	284					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						TATACAGGACAGGTTTCCTAT	0.488000													27	58					0	0	0.009535	0	0
GALNT6	11226	broad.mit.edu	37	12	51752990	51752990	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:51752990C>A	ENST00000543196.2	-	7	1499	c.1294G>T	c.(1294-1296)Gca>Tca	p.A432S	GALNT6_ENST00000356317.3_Missense_Mutation_p.A432S			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	432					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CAGACCTCTGCCAGGCGCACT	0.542000													108	28					3.79737e-34	7.942e-34	0.003610	1	0
GRM3	2913	broad.mit.edu	37	7	86394875	86394875	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:86394875C>T	ENST00000361669.2	+	2	1513	c.414C>T	c.(412-414)atC>atT	p.I138I	GRM3_ENST00000439827.1_Silent_p.I138I|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Silent_p.I136I	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	138					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)	AAGAAAACATCCCACTTCTCA	0.428000													13	45					0	0	0.002450	0	0
IGHV1-2	28474	broad.mit.edu	37	14	106452803	106452803	+	RNA	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:106452803G>C	ENST00000390594.2	-	0	282																											TGCCACCACTGTTAGGGTTGA	0.557000													124	23					0	0	0.003610	0	0
IRX1	79192	broad.mit.edu	37	5	3599475	3599475	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:3599475G>T	ENST00000302006.3	+	2	465	c.413G>T	c.(412-414)aGc>aTc	p.S138I	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	138				S -> N (in Ref. 2; AAB50005).		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACCCGCGAGAGCACCAGCACG	0.647000													19	32					1.01871e-10	1.40793e-10	0.008871	1	0
QSOX2	169714	broad.mit.edu	37	9	139100583	139100583	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:139100583C>A	ENST00000358701.5	-	12	2125	c.2088G>T	c.(2086-2088)ccG>ccT	p.P696P		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	696					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CTCACACGGCCGGGTGGTGGT	0.597000													18	15					8.00594e-06	9.27486e-06	0.007413	1	0
TRPM1	4308	broad.mit.edu	37	15	31358394	31358394	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:31358394G>T	ENST00000542188.1	-	6	1039	c.726C>A	c.(724-726)aaC>aaA	p.N242K	TRPM1_ENST00000256552.6_Missense_Mutation_p.N225K|TRPM1_ENST00000397795.2_Missense_Mutation_p.N203K	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	203					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TGTGGGAGTTGTTGAGCACAG	0.542000													23	24					7.87624e-14	1.19834e-13	0.002780	1	0
GRIK4	2900	broad.mit.edu	37	11	120833279	120833279	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:120833279G>T	ENST00000527524.2	+	18	2442	c.2155G>T	c.(2155-2157)Gcc>Tcc	p.A719S	GRIK4_ENST00000438375.2_Missense_Mutation_p.A719S			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	719					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TTCCAACTACGCCTTCCTCCT	0.537000													28	19					5.61819e-17	9.3395e-17	0.005443	1	0
MYH4	4622	broad.mit.edu	37	17	10367997	10367997	+	Splice_Site	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:10367997C>G	ENST00000255381.2	-	6	644		c.e6+1		CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle						muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AATCTACATACGTAATCAAGA	0.333000													14	8					0	0	0.003163	0	0
CDH4	1002	broad.mit.edu	37	20	60348060	60348060	+	Splice_Site	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:60348060C>T	ENST00000360469.5	+	4	486	c.396_splice	c.e4-1	p.P133_splice	CDH4_ENST00000543233.1_Splice_Site_p.P59_splice	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	133					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CAAATAAAGCCGCAGAAAGGA	0.572000													6	18					0	0	0.001984	0	0
LIPH	200879	broad.mit.edu	37	3	185241925	185241925	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:185241925C>T	ENST00000296252.4	-	5	793	c.652G>A	c.(652-654)Gga>Aga	p.G218R	LIPH_ENST00000424591.2_Missense_Mutation_p.G184R	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	218					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TCTATGTTTCCTAATGGCTCC	0.393000													5	43					0	0	0.001168	0	0
ZNF423	23090	broad.mit.edu	37	16	49671762	49671762	+	Missense_Mutation	SNP	G	G	T	rs142517429	byFrequency	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:49671762G>T	ENST00000561648.1	-	4	1354	c.1301C>A	c.(1300-1302)gCg>gAg	p.A434E	ZNF423_ENST00000535559.1_Missense_Mutation_p.A317E|ZNF423_ENST00000562520.1_Missense_Mutation_p.A374E|ZNF423_ENST00000562871.1_Missense_Mutation_p.A374E|ZNF423_ENST00000262383.2_Missense_Mutation_p.A434E|ZNF423_ENST00000563137.2_Missense_Mutation_p.A374E|ZNF423_ENST00000567169.1_Missense_Mutation_p.A317E	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	434					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)				GGGCTTGTCCGCGTGGATGGT	0.582000													22	34					4.72057e-08	5.92894e-08	0.003954	1	0
KCTD19	146212	broad.mit.edu	37	16	67325561	67325561	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:67325561G>T	ENST00000304372.5	-	13	2453	c.2398C>A	c.(2398-2400)Ccc>Acc	p.P800T		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	800						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TGGGGCTGGGGACTGGCTGTG	0.627000													18	29					1.00905e-13	1.52378e-13	0.008871	1	0
OBP2B	29989	broad.mit.edu	37	9	136083520	136083520	+	Splice_Site	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:136083520A>T	ENST00000372034.3	-	3	318	c.277_splice	c.e3+1	p.Y93_splice	OBP2B_ENST00000372032.2_Splice_Site_p.L48_splice|OBP2B_ENST00000461961.1_5'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	93					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		aggggCTCACAGGCGCTGTAT	0.642000													10	11					0	0	0.008291	0	0
RTL1	388015	broad.mit.edu	37	14	101350919	101350919	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:101350919C>T	ENST00000534062.1	-	1	265	c.207G>A	c.(205-207)ctG>ctA	p.L69L		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	69										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GATCAGTGGGCAGCTCTTCCA	0.607000													29	6					0	0	0.007291	0	0
BPIFB3	359710	broad.mit.edu	37	20	31659958	31659958	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:31659958G>C	ENST00000375494.3	+	13	1309	c.1309G>C	c.(1309-1311)Gca>Cca	p.A437P		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	437					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										GGCAGTGTATGCACCAAAGCT	0.507000													17	26					0	0	0.010504	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329734	88329734	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:88329734C>A	ENST00000325089.6	+	2	2310	c.2091C>A	c.(2089-2091)agC>agA	p.S697R	SLITRK5_ENST00000400028.3_Missense_Mutation_p.S456R	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	697						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AGAACCAGAGCGACCACACCA	0.612000													21	29					1.10513e-12	1.63068e-12	0.002299	1	0
OR4C15	81309	broad.mit.edu	37	11	55321938	55321938	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:55321938G>T	ENST00000314644.2	+	1	156	c.156G>T	c.(154-156)ttG>ttT	p.L52F		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TCTTTTCCTTGGGAAACATGC	0.358000										HNSCC(20;0.049)			41	86					7.63091e-17	1.25968e-16	0.007835	1	0
SLC12A9	56996	broad.mit.edu	37	7	100459383	100459383	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:100459383G>T	ENST00000354161.3	+	12	1686	c.1561G>T	c.(1561-1563)Gac>Tac	p.D521Y	SLC12A9_ENST00000540482.1_Missense_Mutation_p.D521Y|SLC12A9_ENST00000428758.1_Missense_Mutation_p.D521Y|SLC12A9_ENST00000275729.3_Missense_Mutation_p.D432Y|SLC12A9_ENST00000415287.1_Missense_Mutation_p.D432Y	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	521						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCTTCGGCTGGACGTCCGGAA	0.652000													32	84					1.61788e-16	2.63999e-16	0.002445	1	0
RAB19	401409	broad.mit.edu	37	7	140110823	140110823	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:140110823G>C	ENST00000275874.5	+	3	450	c.252G>C	c.(250-252)caG>caC	p.Q84H	RAB19_ENST00000356407.3_Intron|RAB19_ENST00000537763.1_Intron			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	67					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					TCCACGGGCAGACTCAAAAGA	0.468000													50	67					0	0	0.003610	0	0
DSG3	1830	broad.mit.edu	37	18	29056037	29056037	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:29056037G>T	ENST00000257189.4	+	16	2897	c.2814G>T	c.(2812-2814)tcG>tcT	p.S938S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	938					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGACTTACTCGGCTTCTGGTT	0.502000													23	18					7.87624e-14	1.19834e-13	0.002780	1	0
FAM83C	128876	broad.mit.edu	37	20	33879855	33879855	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:33879855C>A	ENST00000374408.3	-	1	349	c.253G>T	c.(253-255)Gtg>Ttg	p.V85L		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	85										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCCCCGCGCACATGGCTGGTC	0.677000													9	23					0.000274275	0.000298482	0.004482	1	0
PLXDC2	84898	broad.mit.edu	37	10	20534321	20534321	+	Missense_Mutation	SNP	G	G	T	rs140442189		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:20534321G>T	ENST00000377252.3	+	13	2201	c.1360G>T	c.(1360-1362)Gct>Tct	p.A454S	PLXDC2_ENST00000377242.3_Missense_Mutation_p.A405S|PLXDC2_ENST00000377238.2_3'UTR	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	454						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						AACCCTCCACGCTGGCCTCAT	0.498000													20	30					3.99206e-14	6.12634e-14	0.007413	1	0
LCT	3938	broad.mit.edu	37	2	136594685	136594685	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:136594685C>G	ENST00000264162.2	-	1	65	c.55G>C	c.(55-57)Ggg>Cgg	p.G19R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	19					carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CAGTCTGACCCCCAGCATGAA	0.463000													75	9					0	0	0.003610	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18641550	18641550	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:18641550A>T	ENST00000433979.1	+	18	2665	c.2549A>T	c.(2548-2550)gAc>gTc	p.D850V	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.D850V|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.D891V	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	850					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TCTGCCAGTGACCATCAAAGA	0.338000													6	3					0	0	0.001168	0	0
RASA3	22821	broad.mit.edu	37	13	114817632	114817632	+	Splice_Site	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:114817632T>A	ENST00000334062.7	-	3	295		c.e3-2		RASA3_ENST00000389544.4_Splice_Site|RASA3_ENST00000542651.1_Splice_Site	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3						intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TAAAACGGGCTAGTGAGACAA	0.483000													7	9					0	0	0.001984	0	0
NKX2-2	4821	broad.mit.edu	37	20	21494243	21494243	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:21494243T>A	ENST00000377142.4	-	1	421	c.65A>T	c.(64-66)aAc>aTc	p.N22I		NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	22					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CTCCTCATCGTTGGTGTCCGG	0.612000													17	17					0	0	0.004990	0	0
ATP7A	538	broad.mit.edu	37	X	77298190	77298190	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:77298190C>A	ENST00000341514.6	+	20	4064	c.3909C>A	c.(3907-3909)atC>atA	p.I1303I	ATP7A_ENST00000343533.5_Silent_p.I1225I|ATP7A_ENST00000350425.4_Silent_p.I306I	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1303					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						GAGATGGAATCAATGACTCCC	0.463000													144	91					2.29838e-65	5.06071e-65	0.003610	1	0
DSCAML1	57453	broad.mit.edu	37	11	117332278	117332278	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:117332278C>A	ENST00000321322.6	-	18	3481	c.3480G>T	c.(3478-3480)ctG>ctT	p.L1160L	DSCAML1_ENST00000527706.1_Silent_p.L890L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1100	Fibronectin type-III 3.				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	p.L1160L(1)		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)		AAGTGATGGACAGGGCCCGGA	0.607000													26	16					2.48779e-11	3.53122e-11	0.005443	1	0
ATP11A	23250	broad.mit.edu	37	13	113536149	113536149	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:113536149G>A	ENST00000375630.2	+	29	3435	c.3347G>A	c.(3346-3348)cGg>cAg	p.R1116Q	ATP11A_ENST00000487903.1_3'UTR|ATP11A_ENST00000375645.3_Intron	NM_032189.3	NP_115565.3	P98196	AT11A_HUMAN	ATPase, class VI, type 11A	0					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)				GCACAGCCTCGGGACCGCGAC	0.632000													14	13					0	0	0.004007	0	0
COL12A1	1303	broad.mit.edu	37	6	75811368	75811368	+	Splice_Site	SNP	C	C	A	rs144284766		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:75811368C>A	ENST00000322507.8	-	58	8780	c.8469_splice	c.e58-1	p.G2824_splice	COL12A1_ENST00000345356.6_Splice_Site_p.G1660_splice|COL12A1_ENST00000483888.2_Splice_Site_p.G2824_splice|COL12A1_ENST00000416123.2_Splice_Site_p.G2748_splice|COL12A1_ENST00000511023.1_5'UTR	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2824	Triple-helical region (COL2) with 1 imperfection.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.G2824E(1)		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						TCCTGGGGTTCCCTGCACAGA	0.403000													20	2					0.000229342	0.000253079	0.001882	1	0
NRAP	4892	broad.mit.edu	37	10	115366008	115366008	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:115366008G>A	ENST00000369358.4	-	33	4004	c.3760C>T	c.(3760-3762)Cac>Tac	p.H1254Y	NRAP_ENST00000360478.3_Missense_Mutation_p.H1211Y|NRAP_ENST00000369360.3_Missense_Mutation_p.H1219Y|NRAP_ENST00000359988.3_Missense_Mutation_p.H1246Y			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1246						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GTATACTCGTGTCTTGCATCC	0.443000													19	16					0	0	0.008871	0	0
NRXN2	9379	broad.mit.edu	37	11	64390478	64390478	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:64390478T>A	ENST00000265459.6	-	21	4381	c.3920A>T	c.(3919-3921)cAg>cTg	p.Q1307L	NRXN2_ENST00000377559.3_Missense_Mutation_p.Q1237L|NRXN2_ENST00000377551.1_Missense_Mutation_p.Q1307L|NRXN2_ENST00000301894.2_Missense_Mutation_p.Q261L|NRXN2_ENST00000409571.1_Missense_Mutation_p.Q1300L	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1307	Laminin G-like 6.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CACCTGGCCCTGGAAGGGGCG	0.667000													10	4					0	0	0.000978	0	0
FAM219A	203259	broad.mit.edu	37	9	34402709	34402709	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:34402709C>A	ENST00000445726.1	-	3	563	c.257G>T	c.(256-258)cGa>cTa	p.R86L	FAM219A_ENST00000297620.4_Missense_Mutation_p.R69L|FAM219A_ENST00000379078.1_Missense_Mutation_p.R85L|FAM219A_ENST00000379089.1_Missense_Mutation_p.R85L|FAM219A_ENST00000379087.1_Missense_Mutation_p.R68L|FAM219A_ENST00000379081.1_Missense_Mutation_p.R57L|FAM219A_ENST00000379084.1_Missense_Mutation_p.R68L|FAM219A_ENST00000379080.1_Missense_Mutation_p.R74L	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	CI025_HUMAN	family with sequence similarity 219, member A	86								p.R69Q(1)									CTACCTTGTTCGGGCCATGAC	0.622000													21	37					2.70639e-06	3.21144e-06	0.002299	1	0
MUC17	140453	broad.mit.edu	37	7	100687100	100687100	+	Splice_Site	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:100687100T>A	ENST00000306151.4	+	3	12467	c.12403_splice	c.e3+1	p.C4135_splice		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4135	EGF-like.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACCACAACATGTAAGTGATT	0.438000													25	20					0	0	0.003330	0	0
OTUD7A	161725	broad.mit.edu	37	15	31779767	31779767	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:31779767C>T	ENST00000382902.1	-	9	1266	c.1174G>A	c.(1174-1176)Gtg>Atg	p.V392M	OTUD7A_ENST00000307050.4_Missense_Mutation_p.V385M			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	385	Catalytic (By similarity).|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		AGGGGGATCACGGCTGGAACA	0.587000													15	4					0	0	0.003163	0	0
STOML3	161003	broad.mit.edu	37	13	39542626	39542626	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:39542626G>T	ENST00000379631.4	-	6	906	c.562C>A	c.(562-564)Cga>Aga	p.R188R	STOML3_ENST00000423210.1_Silent_p.R179R	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	188						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		ATTTCCACTCGGGCCACCCGG	0.502000													21	48					6.44725e-10	8.62472e-10	0.002299	1	0
FCGBP	8857	broad.mit.edu	37	19	40424300	40424300	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:40424300C>A	ENST00000221347.6	-	4	1910	c.1903G>T	c.(1903-1905)Gag>Tag	p.E635*		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	635	VWFD 1.					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)			CTTGCGAACTCCACAGCGTCA	0.602000													107	169					2.44514e-32	5.03955e-32	0.003610	1	0
DIO3	1735	broad.mit.edu	37	14	102028296	102028296	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:102028296G>T	ENST00000510508.4	+	1	609	c.463G>T	c.(463-465)Gcg>Tcg	p.A155S	DIO3_ENST00000359323.3_Missense_Mutation_p.A129S			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	129					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)				CCTCGACTACGCGCAAGGGAA	0.627000													33	5					3.86903e-22	7.12504e-22	0.002836	1	0
ALPK2	115701	broad.mit.edu	37	18	56247141	56247141	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:56247141G>T	ENST00000361673.3	-	4	1080	c.867C>A	c.(865-867)gcC>gcA	p.A289A		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	289							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						TGTTGGCCACGGCACTGTCAC	0.488000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	33					1.58986e-06	1.89607e-06	0.008291	1	0
ZNF536	9745	broad.mit.edu	37	19	30936006	30936006	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:30936006G>T	ENST00000355537.3	+	2	1684	c.1537G>T	c.(1537-1539)Gcg>Tcg	p.A513S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGCCAAGGCTGCGGAGATGGA	0.637000													30	47					1.88708e-17	3.18558e-17	0.008361	1	0
IQSEC3	440073	broad.mit.edu	37	12	247619	247619	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:247619C>A	ENST00000538872.1	+	4	1208	c.1090C>A	c.(1090-1092)Ctg>Atg	p.L364M	IQSEC3_ENST00000382841.2_Missense_Mutation_p.L61M|IQSEC3_ENST00000326261.4_Missense_Mutation_p.L364M|RP11-598F7.4_ENST00000505893.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	364					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GGCCGAGAGCCTGGCGGCCGA	0.687000													3	9					0.004672	0.00493658	0.004672	1	0
KCNF1	3754	broad.mit.edu	37	2	11053984	11053984	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:11053984C>T	ENST00000295082.1	+	1	1922	c.1432C>T	c.(1432-1434)Ccc>Tcc	p.P478S		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	478						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CACCTTCATCCCCCTCCTGAC	0.662000													7	20					0	0	0.001984	0	0
LZTS3	9762	broad.mit.edu	37	20	3146898	3146898	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:3146898G>A	ENST00000329152.3	-	2	1965	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W	LZTS3_ENST00000360342.3_Missense_Mutation_p.R190W|LZTS3_ENST00000337576.5_Missense_Mutation_p.R190W	NM_014731.2	NP_055546.1																					GGGCCCTGCCGTCCCTCAGGA	0.617000													4	10					0	0	0.009096	0	0
GK2	2712	broad.mit.edu	37	4	80329142	80329142	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:80329142C>A	ENST00000358842.3	-	1	230	c.213G>T	c.(211-213)acG>acT	p.T71T		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	71					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GTTTCTCACACGTTCTCGCTA	0.403000													73	16					1.1397e-45	2.45608e-45	0.003610	1	0
DDI1	414301	broad.mit.edu	37	11	103907855	103907855	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:103907855C>A	ENST00000302259.3	+	1	548	c.305C>A	c.(304-306)cCt>cAt	p.P102H	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	102					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)		ATTGCGGTGCCTGGGACGTCC	0.647000													14	63					2.31682e-05	2.63876e-05	0.003163	1	0
BCAT1	586	broad.mit.edu	37	12	25047340	25047340	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:25047340C>A	ENST00000261192.7	-	3	674	c.148G>T	c.(148-150)Gga>Tga	p.G50*	BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539282.1_Nonsense_Mutation_p.G62*|BCAT1_ENST00000538118.1_Nonsense_Mutation_p.G49*|BCAT1_ENST00000539780.1_Nonsense_Mutation_p.G50*|BCAT1_ENST00000342945.5_Nonsense_Mutation_p.G26*	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	50					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	AACACAGTTCCAAAAACCAGA	0.438000													6	3					3.59834e-05	4.06569e-05	0.001168	1	0
MTUS2	23281	broad.mit.edu	37	13	29598964	29598964	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:29598964G>T	ENST00000431530.3	+	1	217	c.159G>T	c.(157-159)gaG>gaT	p.E53D		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	43						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCATGTTGGAGGTCAGCTCCT	0.423000													15	25					2.32078e-09	3.04429e-09	0.003163	1	0
LPIN3	64900	broad.mit.edu	37	20	39974574	39974574	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:39974574G>T	ENST00000373257.3	+	2	222	c.131G>T	c.(130-132)cGg>cTg	p.R44L		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	44	N-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GGCTCGTTCCGGTGCTCACCC	0.642000													52	40					2.81731e-22	5.21533e-22	0.003610	1	0
SNX15	29907	broad.mit.edu	37	11	64795066	64795066	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:64795066G>T	ENST00000377244.3	+	1	187	c.57G>T	c.(55-57)agG>agT	p.R19S	SNX15_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	19	PX.				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						CGGACCCCAGGACTCACCCCA	0.622000											OREG0021069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	32					2.14674e-31	4.38628e-31	0.003610	1	0
HCN4	10021	broad.mit.edu	37	15	73616437	73616437	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:73616437G>T	ENST00000261917.3	-	7	3129	c.2136C>A	c.(2134-2136)gaC>gaA	p.D712E		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	712					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CACCAATGCGGTCCAGGCGGT	0.652000													19	29					6.94344e-10	9.24488e-10	0.006122	1	0
FOXP1	27086	broad.mit.edu	37	3	71064794	71064794	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:71064794C>T	ENST00000318789.4	-	12	1405	c.880G>A	c.(880-882)Gag>Aag	p.E294K	FOXP1_ENST00000498215.1_Missense_Mutation_p.E294K|FOXP1_ENST00000493089.1_Missense_Mutation_p.E294K|FOXP1_ENST00000491238.1_Missense_Mutation_p.E296K|FOXP1_ENST00000468577.1_Missense_Mutation_p.E294K|FOXP1_ENST00000475937.1_Missense_Mutation_p.E294K|FOXP1_ENST00000484350.1_Missense_Mutation_p.E218K	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	294					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GGGTGCTCCTCATGGGACAAA	0.473000			T	PAX5	ALL								18	5					0	0	0.004990	0	0
ESX1	80712	broad.mit.edu	37	X	103495214	103495214	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:103495214A>C	ENST00000372588.4	-	4	999	c.916T>G	c.(916-918)Tgg>Ggg	p.W306G		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	306	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						ATGGGCGGCCAGGGTGGCACA	0.776000													5	15					0	0	0.000602	0	0
NELL2	4753	broad.mit.edu	37	12	44913928	44913928	+	Missense_Mutation	SNP	G	G	T	rs147794047		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:44913928G>T	ENST00000429094.2	-	19	2764	c.2260C>A	c.(2260-2262)Cgc>Agc	p.R754S	NELL2_ENST00000452445.2_Missense_Mutation_p.R754S|NELL2_ENST00000437801.2_Missense_Mutation_p.R804S|NELL2_ENST00000551601.1_Missense_Mutation_p.R706S|NELL2_ENST00000333837.4_Missense_Mutation_p.R777S|NELL2_ENST00000549027.1_Missense_Mutation_p.R753S|NELL2_ENST00000395487.2_Missense_Mutation_p.R753S	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	754	VWFC 4.				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)		GTGACACAGCGCGGGCAGCAC	0.542000													14	7					4.36969e-10	5.85654e-10	0.001855	1	0
COL4A2	1284	broad.mit.edu	37	13	111138059	111138059	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:111138059G>T	ENST00000360467.5	+	34	3389	c.3083G>T	c.(3082-3084)aGg>aTg	p.R1028M		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1028	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CTGCCTGGGAGGCCCGGCCAC	0.627000													24	24					9.95505e-16	1.59506e-15	0.002299	1	0
RPE65	6121	broad.mit.edu	37	1	68912412	68912412	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:68912412G>A	ENST00000262340.5	-	3	279	c.226C>T	c.(226-228)Cat>Tat	p.H76Y		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	76					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						TATGTGACATGTCCTTCTTTA	0.502000													15	2					0	0	0.002450	0	0
DCHS1	8642	broad.mit.edu	37	11	6654222	6654222	+	Missense_Mutation	SNP	C	C	T	rs146159630		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:6654222C>T	ENST00000299441.3	-	6	2932	c.2521G>A	c.(2521-2523)Gcg>Acg	p.A841T	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	841	Cadherin 8.				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)		CCTGATACCGCATCTAGGGAG	0.587000													26	36					0	0	0.003330	0	0
CUX2	23316	broad.mit.edu	37	12	111731317	111731317	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:111731317C>A	ENST00000261726.6	+	6	658	c.504C>A	c.(502-504)ccC>ccA	p.P168P		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	168						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						CAGGCATTCCCGGGAAAGCCC	0.602000													4	10					0.000602214	0.000646435	0.000602	1	0
DEC1	50514	broad.mit.edu	37	9	118164403	118164403	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:118164403G>A	ENST00000374016.1	+	8	731	c.212G>A	c.(211-213)tGa>tAa	p.*71*		NM_017418.2	NP_059114.1	Q9P2X7	DEC1_HUMAN	deleted in esophageal cancer 1	0					negative regulation of cell proliferation					kidney(1)|large_intestine(1)|ovary(1)	3						ccagcagattgaatgtaagtg	0.373000													12	27					0	0	0.001855	0	0
LRBA	987	broad.mit.edu	37	4	151770033	151770033	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:151770033T>A	ENST00000535741.1	-	26	4749	c.4276A>T	c.(4276-4278)Act>Tct	p.T1426S	LRBA_ENST00000507224.1_Missense_Mutation_p.T1426S|LRBA_ENST00000357115.3_Missense_Mutation_p.T1426S|LRBA_ENST00000510413.1_Missense_Mutation_p.T1426S			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1426						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)					TCAATTTCAGTAAAGCCAAGA	0.403000													43	8					0	0	0.002852	0	0
CDH9	1007	broad.mit.edu	37	5	26885730	26885730	+	Silent	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:26885730T>A	ENST00000231021.4	-	11	2047	c.1875A>T	c.(1873-1875)atA>atT	p.I625I		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	625					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						TACTAAGCAGTATGAGGACAC	0.473000													11	14					0	0	0.008291	0	0
RAI1	10743	broad.mit.edu	37	17	17700138	17700138	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:17700138C>T	ENST00000353383.1	+	3	4345	c.3876C>T	c.(3874-3876)ctC>ctT	p.L1292L	RAI1_ENST00000261641.6_Silent_p.L1292L	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1292						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCACAAAGCTCCCACCCCCGG	0.657000													58	15					0	0	0.003610	0	0
RTN4R	65078	broad.mit.edu	37	22	20229571	20229571	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:20229571C>A	ENST00000043402.7	-	2	1523	c.1085G>T	c.(1084-1086)cGc>cTc	p.R362L		NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	362					axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					GGGCGGCACGCGTCCCTTCAG	0.672000													14	21					0.000219431	0.000242332	0.002450	1	0
GPSM2	29899	broad.mit.edu	37	1	109428168	109428168	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:109428168G>T	ENST00000406462.1	+	3	797	c.24G>T	c.(22-24)atG>atT	p.M8I	AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Missense_Mutation_p.M8I			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	8					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TGATAAGCATGAGAGAAGACC	0.299000													30	10					1.66425e-11	2.36938e-11	0.004878	1	0
MUC16	94025	broad.mit.edu	37	19	9090222	9090222	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:9090222G>T	ENST00000397910.4	-	1	1796	c.1593C>A	c.(1591-1593)ccC>ccA	p.P531P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	531	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						GTGTGTGCTGGGGTTCACTAA	0.542000													19	7					2.4624e-09	3.22408e-09	0.008871	1	0
OGT	8473	broad.mit.edu	37	X	70784509	70784509	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:70784509G>T	ENST00000373719.3	+	19	2712	c.2495G>T	c.(2494-2496)cGt>cTt	p.R832L	OGT_ENST00000373701.3_Missense_Mutation_p.R822L	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	832					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GTAACCACCCGTTCTCAGTAC	0.398000													33	18					2.61193e-14	4.03016e-14	0.009535	1	0
CUL3	8452	broad.mit.edu	37	2	225378314	225378314	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:225378314C>T	ENST00000264414.4	-	5	919	c.581G>A	c.(580-582)gGt>gAt	p.G194D	CUL3_ENST00000344951.4_Missense_Mutation_p.G128D|CUL3_ENST00000409096.1_Missense_Mutation_p.G170D|CUL3_ENST00000409777.1_Missense_Mutation_p.G170D	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	194					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCCTTCGAGACCTAAAATCAT	0.299000													19	2					0	0	0.010504	0	0
CDH5	1003	broad.mit.edu	37	16	66422325	66422325	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:66422325T>A	ENST00000341529.3	+	4	746	c.598T>A	c.(598-600)Ttt>Att	p.F200I	CDH5_ENST00000563425.2_Missense_Mutation_p.F200I	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	200	Cadherin 2.				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)		GAAAGAGTATTTTGCCATCGA	0.522000													31	41					0	0	0.002836	0	0
DNAH17	8632	broad.mit.edu	37	17	76570801	76570801	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:76570801C>T	ENST00000389840.5	-	2	463	c.339G>A	c.(337-339)gtG>gtA	p.V113V	DNAH17_ENST00000585328.1_Silent_p.V113V					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCACCTCCTCCACCACCGCGA	0.632000													72	29					0	0	0.003610	0	0
SORCS1	114815	broad.mit.edu	37	10	108923745	108923745	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:108923745C>A	ENST00000263054.6	-	1	547	c.540G>T	c.(538-540)tgG>tgT	p.W180C	SORCS1_ENST00000344440.6_Missense_Mutation_p.W180C	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	180						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGTGGCCAGACCAGTGGACCA	0.562000													8	19					0.000442599	0.000477267	0.006214	1	0
SRI	6717	broad.mit.edu	37	7	87838653	87838653	+	Splice_Site	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:87838653C>A	ENST00000265729.2	-	6	564		c.e6+1		SRI_ENST00000490437.1_Splice_Site|SRI_ENST00000394641.3_Splice_Site|SRI_ENST00000419179.1_Splice_Site|SRI_ENST00000431660.1_Splice_Site	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin						heart development|intracellular sequestering of iron ion|muscle organ development|regulation of action potential|regulation of heart contraction|regulation of striated muscle contraction|signal transduction	sarcoplasmic reticulum membrane	calcium channel regulator activity|calcium ion binding|receptor binding			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					ATAGAACTCACCTGTAAGAGC	0.428000													34	30					4.31634e-10	5.82356e-10	0.002445	1	0
PEG3	5178	broad.mit.edu	37	19	57335793	57335793	+	Silent	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:57335793C>G	ENST00000326441.9	-	4	594	c.231G>C	c.(229-231)ccG>ccC	p.P77P	ZIM2_ENST00000391708.3_5'UTR|PEG3_ENST00000594706.1_5'UTR|ZIM2_ENST00000599935.1_5'UTR|PEG3_ENST00000593695.1_5'UTR|ZIM2_ENST00000221722.5_5'UTR|ZIM2_ENST00000601070.1_5'UTR|ZIM2_ENST00000593711.1_5'UTR|PEG3_ENST00000423103.2_Silent_p.P77P|PEG3_ENST00000598410.1_5'UTR	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	77	SCAN box.				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)		TGCGGGTCTCCGGCTGCAACC	0.512000													54	12					0	0	0.003610	0	0
USP19	10869	broad.mit.edu	37	3	49153219	49153219	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:49153219T>A	ENST00000453664.1	-	11	1912	c.1594A>T	c.(1594-1596)Agt>Tgt	p.S532C	USP19_ENST00000434032.2_Missense_Mutation_p.S542C|USP19_ENST00000417901.1_Missense_Mutation_p.S544C|USP19_ENST00000398888.2_Missense_Mutation_p.S441C|USP19_ENST00000398892.3_Missense_Mutation_p.S481C|USP19_ENST00000398896.1_Missense_Mutation_p.S249C|USP19_ENST00000398898.2_Missense_Mutation_p.S481C	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	441					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTTGCCACACTGTCTAGCCCT	0.612000													12	3					0	0	0.000978	0	0
KCNT1	57582	broad.mit.edu	37	9	138656922	138656922	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:138656922G>T	ENST00000298480.5	+	12	1155	c.1081G>T	c.(1081-1083)Ggc>Tgc	p.G361C	KCNT1_ENST00000486577.2_Missense_Mutation_p.G322C|KCNT1_ENST00000263604.3_Missense_Mutation_p.G342C|KCNT1_ENST00000371757.2_Missense_Mutation_p.G361C|KCNT1_ENST00000490355.2_Missense_Mutation_p.G342C|KCNT1_ENST00000491806.2_Missense_Mutation_p.G328C|KCNT1_ENST00000488444.2_Missense_Mutation_p.G342C|KCNT1_ENST00000487664.1_Missense_Mutation_p.G316C			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	361						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)		GAAGTCAGGGGGCAACTACAG	0.607000													14	22					9.31168e-06	1.07612e-05	0.001855	1	0
GP2	2813	broad.mit.edu	37	16	20335515	20335515	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:20335515G>T	ENST00000302555.5	-	3	307	c.158C>A	c.(157-159)aCc>aAc	p.T53N	GP2_ENST00000381360.5_Intron|GP2_ENST00000381362.4_Missense_Mutation_p.T53N|GP2_ENST00000341642.5_Intron			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	53						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGCCTCTGGGGTGCCAGGAGC	0.557000													16	30					1.99824e-07	2.449e-07	0.004990	1	0
TRPC4	7223	broad.mit.edu	37	13	38211559	38211559	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:38211559C>A	ENST00000379705.3	-	11	3272	c.2415G>T	c.(2413-2415)ccG>ccT	p.P805P	TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000379681.3_Silent_p.P810P|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000358477.2_Intron|TRPC4_ENST00000379679.1_Silent_p.P632P|TRPC4_ENST00000338947.5_Silent_p.P632P			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	805	Binds to ITPR1, ITPR2 and ITPR3.				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)		CTGCTGATCTCGGATGAATCA	0.443000													33	39					6.00712e-18	1.02628e-17	0.002445	1	0
RANGAP1	5905	broad.mit.edu	37	22	41652743	41652743	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:41652743G>A	ENST00000455915.2	-	7	2329	c.860C>T	c.(859-861)gCc>gTc	p.A287V	RANGAP1_ENST00000356244.3_Missense_Mutation_p.A287V|RANGAP1_ENST00000407260.4_Missense_Mutation_p.A232V|RANGAP1_ENST00000405486.1_Missense_Mutation_p.A287V			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	287					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCCGCGGATGGCATCTGCAAT	0.647000													9	19					0	0	0.004482	0	0
BAI3	577	broad.mit.edu	37	6	69943233	69943233	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:69943233C>A	ENST00000370598.1	+	18	3353	c.2532C>A	c.(2530-2532)acC>acA	p.T844T	BAI3_ENST00000238918.8_Silent_p.T50T	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	844	GPS.				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)				CTGTGCTTACCGATGCATCCC	0.483000													46	46					6.31075e-24	1.19955e-23	0.003610	1	0
SSH1	54434	broad.mit.edu	37	12	109192936	109192936	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:109192936C>A	ENST00000326495.5	-	13	1282	c.1189G>T	c.(1189-1191)Gtg>Ttg	p.V397L	SSH1_ENST00000551165.1_Missense_Mutation_p.V397L|SSH1_ENST00000360239.3_Missense_Mutation_p.V85L|SSH1_ENST00000326470.5_Missense_Mutation_p.V408L	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	397	Tyrosine-protein phosphatase.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GAGCGACTCACGCCCATTTTG	0.537000													11	1					0.00010058	0.000111948	0.001368	1	0
GREB1	9687	broad.mit.edu	37	2	11716613	11716613	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:11716613G>T	ENST00000381486.2	+	5	889	c.589G>T	c.(589-591)Gca>Tca	p.A197S	GREB1_ENST00000263834.5_Missense_Mutation_p.A197S|GREB1_ENST00000389825.3_Missense_Mutation_p.A87S|GREB1_ENST00000381483.2_Missense_Mutation_p.A197S|GREB1_ENST00000234142.5_Missense_Mutation_p.A197S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	197						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGTCCGTAATGCACAAGGGAC	0.483000													34	43					2.09667e-21	3.82143e-21	0.003755	1	0
HCN3	57657	broad.mit.edu	37	1	155252500	155252500	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:155252500G>T	ENST00000368358.3	+	2	585	c.577G>T	c.(577-579)Gag>Tag	p.E193*	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	193						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGTGGAGCTGGAGCCACGGTT	0.612000													21	39					1.87028e-06	2.22862e-06	0.001882	1	0
HEPH	9843	broad.mit.edu	37	X	65480040	65480040	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:65480040C>A	ENST00000519389.1	+	19	3476	c.3297C>A	c.(3295-3297)caC>caA	p.H1099Q	HEPH_ENST00000374727.3_Missense_Mutation_p.H1048Q|HEPH_ENST00000343002.2_Missense_Mutation_p.H1045Q|HEPH_ENST00000336279.5_Missense_Mutation_p.H778Q|HEPH_ENST00000419594.1_Missense_Mutation_p.H856Q|HEPH_ENST00000441993.2_Missense_Mutation_p.H1048Q			Q9BQS7	HEPH_HUMAN	hephaestin	1045					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGCTGATGCACTGCCATGTGA	0.507000													32	2					1.06801e-11	1.52819e-11	0.009535	1	0
DYNC2H1	79659	broad.mit.edu	37	11	103124057	103124057	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:103124057C>A	ENST00000375735.2	+	66	10230	c.10086C>A	c.(10084-10086)taC>taA	p.Y3362*	DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.Y3369*|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3362	AAA 5 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTATTGACTACAATGAAGAAT	0.348000													17	21					4.14922e-12	6.0098e-12	0.004007	1	0
MAP2K3	5606	broad.mit.edu	37	17	21201777	21201777	+	Silent	SNP	C	C	A	rs145057136		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:21201777C>A	ENST00000342679.4	+	2	351	c.102C>A	c.(100-102)ccC>ccA	p.P34P	MAP2K3_ENST00000316920.6_Silent_p.P5P|MAP2K3_ENST00000361818.5_Silent_p.P5P	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	34					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CCAAGCCACCCGCACCCAACC	0.562000													47	116					1.22102e-19	2.16696e-19	0.003610	1	0
BPIFB6	128859	broad.mit.edu	37	20	31630680	31630680	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:31630680C>A	ENST00000349552.1	+	13	1248	c.1248C>A	c.(1246-1248)gtC>gtA	p.V416V		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	416						extracellular region	lipid binding										TCCCAGTTGTCAATGGTGAGG	0.488000													43	18					1.15505e-17	1.95916e-17	0.009718	1	0
TRO	7216	broad.mit.edu	37	X	54954192	54954192	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:54954192A>G	ENST00000173898.7	+	11	1968	c.1856A>G	c.(1855-1857)aAa>aGa	p.K619R	TRO_ENST00000399736.1_Missense_Mutation_p.K222R|TRO_ENST00000319167.8_Missense_Mutation_p.K619R|TRO_ENST00000420798.2_Missense_Mutation_p.K150R|TRO_ENST00000375022.4_Missense_Mutation_p.K619R|TRO_ENST00000375041.2_Missense_Mutation_p.K222R	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	619	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AGCAAGATGAAAGTCCTCAAG	0.527000													14	3					0	0	0.002450	0	0
ZFP91	80829	broad.mit.edu	37	11	58384721	58384721	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:58384721A>G	ENST00000316059.6	+	11	1426	c.1255A>G	c.(1255-1257)Atg>Gtg	p.M419V	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.M419V	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	419					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TAATTGGCACATGAAGAAACA	0.403000													24	31					0	0	0.003330	0	0
NES	10763	broad.mit.edu	37	1	156642986	156642986	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:156642986C>A	ENST00000368223.3	-	4	1126	c.994G>T	c.(994-996)Gag>Tag	p.E332*		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	332	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AATTGCAGCTCCAGCTTGGGG	0.587000													7	15					0.00198382	0.0021119	0.001984	1	0
TUBA3C	7278	broad.mit.edu	37	13	19753574	19753574	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:19753574C>A	ENST00000400113.3	-	2	237	c.133G>T	c.(133-135)Ggg>Tgg	p.G45W		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	45					'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)		GAGTCGTCCCCACCACCAATG	0.562000													21	47					4.26978e-12	6.17181e-12	0.003330	1	0
SNHG14	104472715	broad.mit.edu	37	15	25432759	25432759	+	RNA	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:25432759G>A	ENST00000424208.1	+	0	761				SNORD115-10_ENST00000365073.1_RNA	NR_003305.1																						ATTACGCTGAGGCCCAGCCTA	0.493000													5	256					0	0	0.001168	0	0
INPP4B	8821	broad.mit.edu	37	4	143033733	143033733	+	Silent	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:143033733A>G	ENST00000513000.1	-	23	2671	c.2238T>C	c.(2236-2238)ttT>ttC	p.F746F	INPP4B_ENST00000508116.1_Silent_p.F746F|INPP4B_ENST00000509777.1_Silent_p.F746F|INPP4B_ENST00000308502.4_Silent_p.F746F|INPP4B_ENST00000262992.4_Silent_p.F746F	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	746					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TTCCAACATTAAAAAGTACTG	0.388000													51	7					0	0	0.003610	0	0
PDCD11	22984	broad.mit.edu	37	10	105158271	105158271	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:105158271G>T	ENST00000369797.3	+	2	182	c.88G>T	c.(88-90)Gac>Tac	p.D30Y		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	30					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AGTTGAACAAGACAACTTATT	0.413000													7	14					2.0095e-06	2.39049e-06	0.001984	1	0
TBC1D2B	23102	broad.mit.edu	37	15	78316866	78316866	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:78316866G>A	ENST00000409931.3	-	6	1173	c.1102C>T	c.(1102-1104)Ctc>Ttc	p.L368F	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.L368F			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	368						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTCTGCTGGAGCAGTCGAACA	0.507000													20	19					0	0	0.007413	0	0
PSMD4	5710	broad.mit.edu	37	1	151234661	151234661	+	Silent	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:151234661G>C	ENST00000368884.3	+	2	131	c.51G>C	c.(49-51)cgG>cgC	p.R17R	PSMD4_ENST00000368881.4_Silent_p.R17R	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	17	VWFA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGTATATGCGGAATGGAGACT	0.493000													39	50					0	0	0.007835	0	0
FZD4	8322	broad.mit.edu	37	11	86662732	86662732	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:86662732C>A	ENST00000531380.1	-	2	1371	c.1066G>T	c.(1066-1068)Gca>Tca	p.A356S	PRSS23_ENST00000533902.2_3'UTR|PRSS23_ENST00000531521.1_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	356					canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTTTTCACTGCGGGGATGGCC	0.483000													49	26					2.64894e-19	4.65452e-19	0.003610	1	0
DEFB118	117285	broad.mit.edu	37	20	29960910	29960910	+	Silent	SNP	T	T	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:29960910T>G	ENST00000253381.2	+	2	342	c.309T>G	c.(307-309)gtT>gtG	p.V103V		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	103					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AAGATATGGTTGAAGAGTCTG	0.458000													27	40					0	0	0.004656	0	0
PPEF2	5470	broad.mit.edu	37	4	76817470	76817470	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:76817470G>T	ENST00000286719.7	-	2	365	c.9C>A	c.(7-9)agC>agA	p.S3R	PPEF2_ENST00000510607.1_5'UTR	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	3					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGGAGGTGCCGCTTCCCATAG	0.488000											OREG0016229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	7					3.38236e-24	6.44648e-24	0.006999	1	0
CNOT1	23019	broad.mit.edu	37	16	58617059	58617059	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:58617059C>A	ENST00000317147.5	-	9	1166	c.834G>T	c.(832-834)gtG>gtT	p.V278V	CNOT1_ENST00000569240.1_Silent_p.V278V|CNOT1_ENST00000441024.2_Silent_p.V278V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	278					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CACCAAACTGCACGATTATAT	0.423000													16	8					1.15088e-07	1.42032e-07	0.004007	1	0
LRP4	4038	broad.mit.edu	37	11	46897219	46897219	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:46897219G>A	ENST00000378623.1	-	27	3955	c.3713C>T	c.(3712-3714)gCt>gTt	p.A1238V		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1238			A -> T (in dbSNP:rs2306031).		endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ATTCAGGTCAGCAGCCTCAAT	0.567000													15	25					0	0	0.002450	0	0
PITX2	5308	broad.mit.edu	37	4	111553593	111553593	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:111553593G>T	ENST00000354925.2	-	5	1795	c.90C>A	c.(88-90)tcC>tcA	p.S30S	PITX2_ENST00000394598.2_Silent_p.S30S|PITX2_ENST00000355080.5_Intron|PITX2_ENST00000394595.3_Silent_p.S30S	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	30					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TTTTGATTTCGGAGTCTTTGG	0.652000													34	5					2.19358e-23	4.14733e-23	0.005524	1	0
PKD1	5310	broad.mit.edu	37	16	2156625	2156625	+	Silent	SNP	G	G	A	rs147694938		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:2156625G>A	ENST00000262304.4	-	18	7471	c.7263C>T	c.(7261-7263)acC>acT	p.T2421T	PKD1_ENST00000423118.1_Silent_p.T2421T	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2421	REJ.		Missing (in ADPKD1).		calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCGTGGATGTGGTGGTCTCAT	0.672000													6	13					0	0	0.001984	0	0
CSMD3	114788	broad.mit.edu	37	8	113697935	113697935	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:113697935G>T	ENST00000297405.5	-	15	2426	c.2182C>A	c.(2182-2184)Cca>Aca	p.P728T	CSMD3_ENST00000455883.2_Missense_Mutation_p.P624T|CSMD3_ENST00000352409.3_Missense_Mutation_p.P728T|CSMD3_ENST00000343508.3_Missense_Mutation_p.P688T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	728	CUB 4.					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						GTTCCCATTGGTGCAGTAAAG	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	44					4.7546e-09	6.17402e-09	0.004007	1	0
TGIF2LX	90316	broad.mit.edu	37	X	89177276	89177276	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:89177276C>G	ENST00000561129.2	+	1	322	c.192C>G	c.(190-192)atC>atG	p.I64M	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.I64M			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	64						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CCGTTAAGATCCTCCGCGACT	0.463000													46	33					0	0	0.003610	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093482	30093482	+	RNA	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:30093482C>A	ENST00000567636.1	+	0	1857					NR_003558.1																						ACAAGTGCAGCCACCGTTGAG	0.517000													44	68					1.89013e-27	3.75378e-27	0.003610	1	0
CRB2	286204	broad.mit.edu	37	9	126133229	126133229	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:126133229C>G	ENST00000373631.3	+	7	1898	c.1897C>G	c.(1897-1899)Cgg>Ggg	p.R633G	CRB2_ENST00000359999.3_Missense_Mutation_p.R633G|CRB2_ENST00000373629.2_Missense_Mutation_p.R301G	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	633	EGF-like 10.					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						CGACTGTGCCCGGCCCCATAG	0.637000													17	32					0	0	0.008871	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958752	57958752	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:57958752A>T	ENST00000311591.3	+	1	847	c.790A>T	c.(790-792)Aca>Tca	p.T264S		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				GCGAGACAACACAGGCCAGTC	0.577000													32	60					0	0	0.002445	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904214	144904214	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:144904214C>A	ENST00000370490.1	+	1	4526	c.271C>A	c.(271-273)Ctt>Att	p.L91I	SLITRK2_ENST00000434188.2_Missense_Mutation_p.L91I|SLITRK2_ENST00000447897.2_Missense_Mutation_p.L91I|SLITRK2_ENST00000428560.2_Missense_Mutation_p.L91I|SLITRK2_ENST00000413937.2_Missense_Mutation_p.L91I			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	91						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CGCGGTGACTCTTCACCTAGG	0.463000													30	59					1.30897e-18	2.26633e-18	0.009535	1	0
EEF1A1	1915	broad.mit.edu	37	6	74229077	74229077	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:74229077T>G	ENST00000316292.9	-	2	1298	c.307A>C	c.(307-309)Att>Ctt	p.I103L	EEF1A1_ENST00000331523.2_Missense_Mutation_p.I103L|EEF1A1_ENST00000491404.1_5'UTR|EEF1A1_ENST00000309268.6_Missense_Mutation_p.I103L	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	103						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GTCCCTGTAATCATGTTTTTG	0.398000											OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	3	49					0	0	0.004672	0	0
SUSD1	64420	broad.mit.edu	37	9	114820804	114820804	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:114820804T>C	ENST00000374270.3	-	14	2185	c.2013A>G	c.(2011-2013)atA>atG	p.I671M	SUSD1_ENST00000374263.3_Missense_Mutation_p.I671M|SUSD1_ENST00000374264.2_Missense_Mutation_p.I671M	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	671						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GCCTGTCTCCTATAGGTATCT	0.438000													37	40					0	0	0.004878	0	0
SEC61A1	29927	broad.mit.edu	37	3	127786902	127786902	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:127786902G>T	ENST00000243253.3	+	11	1428	c.1244_splice	c.e11+1	p.R415_splice	RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000464451.1_Splice_Site_p.R421_splice|SEC61A1_ENST00000483956.1_3'UTR|SEC61A1_ENST00000424880.2_Splice_Site_p.R295_splice	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	415					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	p.R415Q(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						GAACTCAACCGGTGAGTGGTG	0.577000											OREG0015775	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	44					1.99824e-07	2.449e-07	0.004990	1	0
ARHGAP4	393	broad.mit.edu	37	X	153176039	153176039	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:153176039C>A	ENST00000370028.3	-	17	2020	c.1963G>T	c.(1963-1965)Gag>Tag	p.E655*	ARHGAP4_ENST00000393721.1_Nonsense_Mutation_p.E437*|ARHGAP4_ENST00000370016.1_Nonsense_Mutation_p.E594*|ARHGAP4_ENST00000350060.5_Nonsense_Mutation_p.E615*|ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000537206.1_Nonsense_Mutation_p.E592*	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	615	Rho-GAP.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCACGTGCTCCACCCTCTCC	0.697000													13	26					4.7546e-09	6.17402e-09	0.004007	1	0
AKAP4	8852	broad.mit.edu	37	X	49955701	49955701	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:49955701G>T	ENST00000376056.2	-	6	2590	c.2440C>A	c.(2440-2442)Caa>Aaa	p.Q814K	AKAP4_ENST00000358526.2_Missense_Mutation_p.Q823K|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Missense_Mutation_p.Q814K|AKAP4_ENST00000376058.2_Missense_Mutation_p.Q440K			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	823					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					ATGACCTCTTGAAGAAGACCT	0.512000													43	12					3.61848e-18	6.2194e-18	0.007835	1	0
GPR98	84059	broad.mit.edu	37	5	90107048	90107048	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:90107048G>T	ENST00000405460.2	+	74	16067	c.15971G>T	c.(15970-15972)gGg>gTg	p.G5324V	GPR98_ENST00000425867.2_Missense_Mutation_p.G985V	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5324	Calx-beta 34.				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)		GAGCCTGAGGGGCAGGAATTC	0.418000													7	2					8.12818e-05	9.06827e-05	0.001984	1	0
ATRNL1	26033	broad.mit.edu	37	10	117486824	117486824	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:117486824G>A	ENST00000355044.3	+	27	3988	c.3862G>A	c.(3862-3864)Gtg>Atg	p.V1288M	ATRNL1_ENST00000423111.2_Missense_Mutation_p.V339M|ATRNL1_ENST00000303745.7_Missense_Mutation_p.V81M	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1288						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AGCTCTGGAAGTGGGAGCTGA	0.458000													4	14					0	0	0.000602	0	0
DOCK4	9732	broad.mit.edu	37	7	111509684	111509684	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:111509684G>T	ENST00000428084.1	-	21	2327	c.2055C>A	c.(2053-2055)taC>taA	p.Y685*	DOCK4_ENST00000437633.1_Nonsense_Mutation_p.Y685*|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	685					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	p.Y673*(1)|p.Y685*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TCCGGTCCACGTACCATTTGA	0.423000													16	51					3.32936e-07	4.04891e-07	0.006122	1	0
XIAP	331	broad.mit.edu	37	X	123041011	123041011	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:123041011C>A	ENST00000371199.3	+	7	1773	c.1474C>A	c.(1474-1476)Caa>Aaa	p.Q492K	XIAP_ENST00000468691.1_3'UTR|XIAP_ENST00000434753.3_Missense_Mutation_p.Q492K|XIAP_ENST00000355640.3_Missense_Mutation_p.Q492K	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	492					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						TACTTTCAAGCAAAAAATTTT	0.353000									X-linked Lymphoproliferative syndrome				18	13					6.94344e-10	9.24488e-10	0.006122	1	0
C1orf173	127254	broad.mit.edu	37	1	75097512	75097512	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:75097512G>T	ENST00000326665.5	-	7	922	c.704C>A	c.(703-705)cCt>cAt	p.P235H	C1orf173_ENST00000420661.2_Missense_Mutation_p.P38H	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	235										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						AAGTGGAGGAGGAATAGGCAT	0.418000													25	10					5.45024e-15	8.52088e-15	0.003330	1	0
RASGRP4	115727	broad.mit.edu	37	19	38903603	38903603	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:38903603G>T	ENST00000454404.2	-	12	1614	c.1401C>A	c.(1399-1401)gcC>gcA	p.A467A	RASGRP4_ENST00000426920.2_Silent_p.A312A|RASGRP4_ENST00000293062.9_Silent_p.A404A|RASGRP4_ENST00000586305.1_Silent_p.A487A|RASGRP4_ENST00000433821.2_Silent_p.A409A|RASGRP4_ENST00000587753.1_Silent_p.A432A|RASGRP4_ENST00000587738.1_Silent_p.A501A	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	501	EF-hand.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCCATGGCAGGCGAAGGGAA	0.562000													39	44					1.32136e-16	2.17113e-16	0.008740	1	0
BAGE2	85319	broad.mit.edu	37	21	11047556	11047556	+	RNA	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr21:11047556C>T	ENST00000470054.1	-	0	698									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTTGTCACACGTATCACACA	0.338000													17	264					0	0	0.006122	0	0
FTMT	94033	broad.mit.edu	37	5	121187974	121187974	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:121187974G>T	ENST00000321339.1	+	1	325	c.316G>T	c.(316-318)Gtg>Ttg	p.V106L		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	106	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CCGGGATGACGTGGCCTTGAA	0.592000													17	8					1.15088e-07	1.42032e-07	0.004007	1	0
CSF1R	1436	broad.mit.edu	37	5	149460556	149460556	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:149460556G>T	ENST00000286301.3	-	3	372	c.81C>A	c.(79-81)gtC>gtA	p.V27V	CSF1R_ENST00000543093.1_Silent_p.V27V	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	27	Ig-like C2-type 1.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CCAGCTCAGGGACACTGGGCT	0.612000													6	3					0.00116845	0.00124669	0.001168	1	0
CNTN3	5067	broad.mit.edu	37	3	74350699	74350699	+	Splice_Site	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:74350699C>A	ENST00000263665.6	-	15	1973		c.e15-1			NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)						cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ACCTCAGGCACTACAAAGGAA	0.438000													27	9					4.22769e-11	5.93552e-11	0.006320	1	0
MYH4	4622	broad.mit.edu	37	17	10368006	10368006	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:10368006G>T	ENST00000255381.2	-	6	635	c.525C>A	c.(523-525)atC>atA	p.I175I	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	175	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ACGTAATCAAGATTGACTGGT	0.323000													15	8					2.23348e-06	2.6525e-06	0.004007	1	0
RALGPS2	55103	broad.mit.edu	37	1	178802638	178802638	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:178802638G>T	ENST00000367635.3	+	8	898	c.560G>T	c.(559-561)aGa>aTa	p.R187I	RALGPS2_ENST00000367634.2_Missense_Mutation_p.R187I|RALGPS2_ENST00000324778.4_Missense_Mutation_p.R152I	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	187	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AAAAGACTCAGAGACTATATA	0.303000													30	41					1.13719e-10	1.56861e-10	0.008361	1	0
NPIPA1	9284	broad.mit.edu	37	16	15045757	15045757	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:15045757G>T	ENST00000328085.6	+	8	928	c.928G>T	c.(928-930)Gag>Tag	p.E310*	NPIPA1_ENST00000472413.1_3'UTR	NM_006985.2	NP_008916.2			nuclear pore complex interacting protein family, member A1																		GACACCTCCCGAGTGTCTGCT	0.557000													14	32					7.45023e-12	1.07144e-11	0.010504	1	0
BRAT1	221927	broad.mit.edu	37	7	2583439	2583439	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:2583439C>A	ENST00000340611.4	-	5	844	c.588G>T	c.(586-588)caG>caT	p.Q196H		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	196					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						CCATGATCTTCTGGGCACACG	0.667000													26	44					2.12542e-12	3.11026e-12	0.006320	1	0
MUC16	94025	broad.mit.edu	37	19	9066733	9066733	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:9066733G>T	ENST00000397910.4	-	3	20916	c.20713C>A	c.(20713-20715)Cta>Ata	p.L6905I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6907	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						GAGTCAGCTAGGACAGAGGAT	0.493000													81	24					1.04643e-32	2.16302e-32	0.003610	1	0
CLN6	54982	broad.mit.edu	37	15	68504016	68504016	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:68504016C>A	ENST00000249806.5	-	4	640	c.483G>T	c.(481-483)acG>acT	p.T161T	CLN6_ENST00000418702.2_Intron|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000538696.1_Silent_p.T193T|CLN6_ENST00000565471.1_Intron|CLN6_ENST00000564752.1_Silent_p.T161T|CLN6_ENST00000566347.1_Intron	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	161					cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCCTCACCAGCGTCTCCGGCT	0.612000													50	72					5.57489e-27	1.09947e-26	0.003610	1	0
ALG10	84920	broad.mit.edu	37	12	34179644	34179644	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:34179644G>T	ENST00000266483.2	+	3	1535	c.1216G>T	c.(1216-1218)Gtt>Ttt	p.V406F	RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	406					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				CTTGTTCACTGTTATAGTTCC	0.353000													43	17					2.2871e-25	4.40639e-25	0.007835	1	0
RNF157	114804	broad.mit.edu	37	17	74151371	74151371	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:74151371T>G	ENST00000269391.6	-	16	1858	c.1726A>C	c.(1726-1728)Aac>Cac	p.N576H	RNF157_ENST00000319945.6_Intron	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	576							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)			CCAGCAAAGTTGCTGTCTGGA	0.567000													21	89					0	0	0.001882	0	0
HSF5	124535	broad.mit.edu	37	17	56565295	56565295	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:56565295G>A	ENST00000323777.3	-	1	450	c.341C>T	c.(340-342)cCg>cTg	p.P114L		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	114						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCGGAAGTGCGGGTTGTGGAA	0.701000													14	54					0	0	0.001855	0	0
USP51	158880	broad.mit.edu	37	X	55513782	55513782	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:55513782C>A	ENST00000500968.3	-	2	1673	c.1591G>T	c.(1591-1593)Gag>Tag	p.E531*	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	531					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TCAGCCCTCTCTGGGTTCTGG	0.522000													14	4					4.3838e-07	5.31756e-07	0.001855	1	0
MAP7D3	79649	broad.mit.edu	37	X	135323319	135323319	+	Splice_Site	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:135323319C>A	ENST00000316077.9	-	5	755	c.535_splice	c.e5+1	p.A179_splice	MAP7D3_ENST00000370661.1_Splice_Site_p.G179_splice|MAP7D3_ENST00000370663.5_Splice_Site_p.A161_splice	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	179						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)					TATTAATTACCAGTTTTGCTC	0.358000													32	31					2.08457e-15	3.29534e-15	0.002096	1	0
HTR3A	3359	broad.mit.edu	37	11	113857618	113857618	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:113857618G>A	ENST00000504030.2	+	8	1433	c.988G>A	c.(988-990)Gtg>Atg	p.V330M	HTR3A_ENST00000355556.2_Missense_Mutation_p.V368M|HTR3A_ENST00000375498.2_Missense_Mutation_p.V336M|HTR3A_ENST00000506841.2_Missense_Mutation_p.V362M|HTR3A_ENST00000535865.1_Missense_Mutation_p.V74M|HTR3A_ENST00000299961.5_Missense_Mutation_p.V315M			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	330					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TGTGCGGCTGGTGCACAAGCA	0.577000													17	16					0	0	0.004007	0	0
NPAP1	23742	broad.mit.edu	37	15	24922627	24922627	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:24922627C>A	ENST00000329468.2	+	1	2087	c.1613C>A	c.(1612-1614)aCc>aAc	p.T538N		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GTCCCTTCCACCGGGACCTCA	0.527000													67	80					2.165e-29	4.36696e-29	0.003610	1	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070568	32070568	+	RNA	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:32070568G>T	ENST00000566806.1	-	0	499																											GTGCAGTCTGGGGCTGAGGTG	0.587000													14	19					9.57634e-11	1.3261e-10	0.003330	1	0
SPRY3	10251	broad.mit.edu	37	X	155004198	155004198	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:155004198G>T	ENST00000302805.2	+	2	1096	c.665G>T	c.(664-666)tGg>tTg	p.W222L		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	222	Cys-rich.|SPR.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTTGTCCGCTGGGCAGCCATG	0.567000													42	185					1.48646e-12	2.18879e-12	0.002522	1	0
COL13A1	1305	broad.mit.edu	37	10	71690197	71690197	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:71690197C>A	ENST00000356340.3	+	28	2075	c.1539C>A	c.(1537-1539)ccC>ccA	p.P513P	COL13A1_ENST00000398971.3_Silent_p.P513P|COL13A1_ENST00000398969.3_Silent_p.P456P|COL13A1_ENST00000398973.3_Silent_p.P513P|COL13A1_ENST00000398972.3_Silent_p.P513P|COL13A1_ENST00000398964.3_Silent_p.P484P|COL13A1_ENST00000357811.3_Silent_p.P491P|COL13A1_ENST00000398978.3_Silent_p.P513P|COL13A1_ENST00000354547.3_Silent_p.P491P|COL13A1_ENST00000398974.3_Silent_p.P501P|COL13A1_ENST00000398966.3_Silent_p.P491P|COL13A1_ENST00000398968.3_Silent_p.P494P|COL13A1_ENST00000520267.1_Silent_p.P456P|COL13A1_ENST00000522165.1_Silent_p.P494P|COL13A1_ENST00000517713.1_Silent_p.P491P|COL13A1_ENST00000520133.1_Silent_p.P462P			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	513	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	CTCCTGGTCCCCAAGGCCCCC	0.552000													10	8					1.08611e-07	1.34624e-07	0.000978	1	0
KIAA1210	57481	broad.mit.edu	37	X	118221720	118221720	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:118221720G>T	ENST00000402510.2	-	11	3472	c.3473C>A	c.(3472-3474)gCt>gAt	p.A1158D		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1158										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GAACTGGGTAGCATATTGGGG	0.468000													39	26					3.33393e-15	5.24115e-15	0.004878	1	0
GABRD	2563	broad.mit.edu	37	1	1956994	1956994	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:1956994G>A	ENST00000378585.4	+	4	370	c.287G>A	c.(286-288)cGg>cAg	p.R96Q		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	96						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(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	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;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CAGAGCTGGCGGGACAGCAGG	0.652000													26	5					0	0	0.005443	0	0
MLXIP	22877	broad.mit.edu	37	12	122615452	122615452	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:122615452C>T	ENST00000319080.6	+	7	1104	c.972C>T	c.(970-972)gaC>gaT	p.D324D				Q9HAP2	MLXIP_HUMAN	MLX interacting protein	324	Required for cytoplasmic localization.|Transactivation domain.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CTAACCTGGACTTCATGGACA	0.547000											OREG0022218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	24					0	0	0.003610	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83411147	83411147	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:83411147T>A	ENST00000262752.2	-	3	201	c.194A>T	c.(193-195)tAt>tTt	p.Y65F	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.Y65F	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	65					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TGCTTTCTCATAGCCTTCCTT	0.368000													11	30					0	0	0.000978	0	0
ZNF776	284309	broad.mit.edu	37	19	58262153	58262153	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:58262153G>T	ENST00000317178.5	+	2	297	c.33_splice	c.e2-1	p.G12_splice	ZNF776_ENST00000431353.1_Splice_Site_p.G12_splice	NM_173632.3	NP_775903.3			zinc finger protein 776											cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		ATCACGGCAGGGCACTGTGAC	0.493000													41	79					5.44703e-19	9.50047e-19	0.009718	1	0
SEPT14	346288	broad.mit.edu	37	7	55902135	55902135	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:55902135C>G	ENST00000388975.3	-	6	819	c.703G>C	c.(703-705)Gcg>Ccg	p.A235P		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	235					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAGGAGTTCGCTTGAGCAGCA	0.343000													11	8					0	0	0.001368	0	0
MRE11A	4361	broad.mit.edu	37	11	94180593	94180593	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:94180593C>A	ENST00000323929.3	-	15	1797	c.1575G>T	c.(1573-1575)agG>agT	p.R525S	MRE11A_ENST00000407439.3_Missense_Mutation_p.R528S|MRE11A_ENST00000393241.4_Missense_Mutation_p.R525S|MRE11A_ENST00000323977.3_Missense_Mutation_p.R525S	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	525					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)				GTGCTCTGGCCCTGGTCATAG	0.418000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				18	14					1.67942e-08	2.13771e-08	0.006122	1	0
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:7578457C>A	ENST00000420246.2	-	5	605	c.473G>T	c.(472-474)cGc>cTc	p.R158L	TP53_ENST00000455263.2_Missense_Mutation_p.R158L|TP53_ENST00000269305.4_Missense_Mutation_p.R158L|TP53_ENST00000445888.2_Missense_Mutation_p.R158L|TP53_ENST00000413465.2_Missense_Mutation_p.R158L|TP53_ENST00000359597.4_Missense_Mutation_p.R158L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(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)		GGCCATGGCGCGGACGCGGGT	0.627000		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)			46	6					1.0096e-33	2.093e-33	0.003610	1	0
SLC17A4	10050	broad.mit.edu	37	6	25773795	25773795	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:25773795C>T	ENST00000377905.4	+	8	999	c.880C>T	c.(880-882)Ctc>Ttc	p.L294F	SLC17A4_ENST00000439485.2_Intron|SLC17A4_ENST00000397076.2_Missense_Mutation_p.L64F	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	294					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATCCTTACCACTCTGGGCCAT	0.468000													17	2					0	0	0.004007	0	0
SAMD4A	23034	broad.mit.edu	37	14	55231218	55231218	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:55231218G>T	ENST00000251091.5	+	6	1597	c.1292G>T	c.(1291-1293)aGt>aTt	p.S431I	SAMD4A_ENST00000555192.1_Missense_Mutation_p.S110I|SAMD4A_ENST00000357634.3_Missense_Mutation_p.S518I|SAMD4A_ENST00000554335.1_Missense_Mutation_p.S519I|SAMD4A_ENST00000392067.3_Missense_Mutation_p.S519I	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	519					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						GAAAATATAAGTTCCTATTTA	0.353000													110	18					4.50961e-65	9.91416e-65	0.003610	1	0
EFHC2	80258	broad.mit.edu	37	X	44107589	44107589	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:44107589C>G	ENST00000420999.1	-	7	1123	c.1040G>C	c.(1039-1041)tGg>tCg	p.W347S		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	347	DM10 2.						calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						TTTTCTTCCCCACACATTGAT	0.353000													2	0					0	0	0.004672	0	0
PYHIN1	149628	broad.mit.edu	37	1	158911776	158911776	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:158911776C>A	ENST00000368140.1	+	5	834	c.589C>A	c.(589-591)Cca>Aca	p.P197T	PYHIN1_ENST00000392252.3_Missense_Mutation_p.P188T|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Missense_Mutation_p.P188T|PYHIN1_ENST00000392254.2_Missense_Mutation_p.P197T	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	197					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GAGCCTAAAACCATTGGCCAA	0.388000													12	10					0.00010058	0.000111948	0.001368	1	0
COL12A1	1303	broad.mit.edu	37	6	75847209	75847209	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:75847209C>A	ENST00000322507.8	-	31	5647	c.5338G>T	c.(5338-5340)Gtg>Ttg	p.V1780L	COL12A1_ENST00000345356.6_Missense_Mutation_p.V616L|COL12A1_ENST00000483888.2_Missense_Mutation_p.V1780L|COL12A1_ENST00000416123.2_Missense_Mutation_p.V1780L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1780	Fibronectin type-III 13.				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						TATTTCTGCACACGACCACTA	0.403000													10	3					0.00829132	0.00872188	0.008291	1	0
VAV1	7409	broad.mit.edu	37	19	6821692	6821692	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:6821692G>T	ENST00000304076.2	+	3	474		c.e3+1		VAV1_ENST00000602142.1_Splice_Site|VAV1_ENST00000599806.1_Splice_Site|VAV1_ENST00000596764.1_Splice_Site|VAV1_ENST00000539284.1_Splice_Site	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GGGGGATCATGTGAGTAACCA	0.637000													22	8					3.8784e-16	6.25663e-16	0.001882	1	0
CACNA1I	8911	broad.mit.edu	37	22	40060149	40060149	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:40060149C>A	ENST00000336649.4	+	23	3669	c.3669C>A	c.(3667-3669)ggC>ggA	p.G1223G	CACNA1I_ENST00000404898.1_Silent_p.G1182G|CACNA1I_ENST00000400164.3_Silent_p.G1182G|CACNA1I_ENST00000407673.1_Silent_p.G1182G|CACNA1I_ENST00000402142.3_Silent_p.G1217G|CACNA1I_ENST00000401624.1_Silent_p.G1217G			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1217					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)	TCTTCGTGGGCGAGATGACAT	0.612000													6	9					2.0095e-06	2.39049e-06	0.001984	1	0
ZNF211	10520	broad.mit.edu	37	19	58146122	58146122	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:58146122G>T	ENST00000544273.1	+	4	579	c.253_splice	c.e4+1	p.L84_splice	ZNF211_ENST00000420680.1_Splice_Site_p.L76_splice|ZNF211_ENST00000299871.5_Splice_Site_p.L85_splice|ZNF211_ENST00000254182.7_Splice_Site_p.L11_splice|ZNF211_ENST00000347302.3_Splice_Site_p.L72_splice|ZNF211_ENST00000240731.4_Splice_Site_p.L85_splice|ZNF211_ENST00000391703.3_Splice_Site_p.L11_splice|ZNF211_ENST00000541801.1_Splice_Site_p.L11_splice			Q13398	ZN211_HUMAN	zinc finger protein 211	72	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CGTCCTCCCTGGGTAAGGCCC	0.522000													40	48					4.00102e-26	7.77184e-26	0.006230	1	0
UPK3A	7380	broad.mit.edu	37	22	45681845	45681845	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:45681845G>T	ENST00000216211.4	+	2	108	c.76G>T	c.(76-78)Gcc>Tcc	p.A26S	UPK3A_ENST00000396082.2_Missense_Mutation_p.A26S	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	26					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GCCCCAACTGGCCAGTGTGAC	0.572000													15	13					0.000422831	0.00045804	0.004007	1	0
TAS2R41	259287	broad.mit.edu	37	7	143175250	143175250	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:143175250C>A	ENST00000408916.1	+	1	285	c.285C>A	c.(283-285)gcC>gcA	p.A95A	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	95					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TGAACTCAGCCACCTTCTGGT	0.542000													30	36					9.65021e-13	1.43138e-12	0.002096	1	0
LACC1	144811	broad.mit.edu	37	13	44455341	44455341	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:44455341G>A	ENST00000441843.1	+	2	705	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	LACC1_ENST00000325686.6_Missense_Mutation_p.E74K	NM_001128303.1	NP_001121775.1	Q8IV20	CM031_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	74																	AGCTCTCTTGGAAGAATTTGA	0.358000													15	18					0	0	0.004990	0	0
LDLRAP1	26119	broad.mit.edu	37	1	25880543	25880543	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:25880543G>A	ENST00000374338.4	+	2	338	c.219G>A	c.(217-219)agG>agA	p.R73R	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	73	PID.				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		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;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		CCATCAAGAGGATCGTGGCTA	0.622000													15	4					0	0	0.006122	0	0
TMEM55B	90809	broad.mit.edu	37	14	20926740	20926740	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:20926740T>A	ENST00000250489.4	-	7	1098	c.812A>T	c.(811-813)cAc>cTc	p.H271L	TMEM55B_ENST00000398020.4_Missense_Mutation_p.H278L|TMEM55B_ENST00000554028.1_Missense_Mutation_p.H104L			Q86T03	TM55B_HUMAN	transmembrane protein 55B	271						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		CTGGACAGGGTGGCTGACCTT	0.572000													13	15					0	0	0.002450	0	0
NEURL2	140825	broad.mit.edu	37	20	44518888	44518888	+	Splice_Site	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:44518888C>G	ENST00000372518.4	-	1	1038		c.e1+1			NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2						intracellular signal transduction					large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				GGGATACCTACAGCCATACTC	0.637000											OREG0025985	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	20					0	0	0.007413	0	0
NHSL2	340527	broad.mit.edu	37	X	71360077	71360077	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:71360077G>T	ENST00000373677.1	+	2	2843	c.1581G>T	c.(1579-1581)gaG>gaT	p.E527D	NHSL2_ENST00000535692.1_Missense_Mutation_p.E527D|NHSL2_ENST00000510661.1_Missense_Mutation_p.E662D|NHSL2_ENST00000540800.1_Missense_Mutation_p.E893D			F5H593	F5H593_HUMAN	NHS-like 2	893										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CTGTTCCTGAGGAGTATGCAC	0.557000													7	75					5.18039e-06	6.07593e-06	0.003080	1	0
OR4C6	219432	broad.mit.edu	37	11	55433099	55433099	+	Missense_Mutation	SNP	C	C	A	rs149652704		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:55433099C>A	ENST00000314259.3	+	1	486	c.457C>A	c.(457-459)Cac>Aac	p.H153N		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GGGATTTATGCACGCAATGAT	0.468000													34	42					1.99505e-19	3.51864e-19	0.002445	1	0
ISG20	3669	broad.mit.edu	37	15	89198669	89198669	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:89198669G>T	ENST00000306072.5	+	4	811	c.453G>T	c.(451-453)tcG>tcT	p.S151S	ISG20_ENST00000560741.1_Silent_p.S151S|ISG20_ENST00000560746.1_3'UTR	NM_002201.4	NP_002192.2	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease gene 20kDa	151					cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity			large_intestine(1)|lung(3)|prostate(1)	5	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			GACACAGCTCGGTGGAAGATG	0.592000													20	21					8.10497e-08	1.01348e-07	0.010504	1	0
OTUD6A	139562	broad.mit.edu	37	X	69282386	69282386	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:69282386G>T	ENST00000338352.2	+	1	46	c.12G>T	c.(10-12)ccG>ccT	p.P4P		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	4										autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						TGGATGATCCGAAGAGTGAAC	0.557000													7	6					0.000274275	0.000298482	0.004482	1	0
MYT1L	23040	broad.mit.edu	37	2	1926727	1926727	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:1926727G>T	ENST00000399161.2	-	10	1561	c.814C>A	c.(814-816)Cac>Aac	p.H272N	MYT1L_ENST00000428368.2_Missense_Mutation_p.H272N	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	272					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACAACACCGTGTCCTTGGGCT	0.423000													57	82					1.59911e-31	3.27206e-31	0.003610	1	0
FPR2	2358	broad.mit.edu	37	19	52272475	52272475	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:52272475G>A	ENST00000598776.1	+	2	1336	c.564G>A	c.(562-564)gaG>gaA	p.E188E	FPR2_ENST00000598953.1_Silent_p.E188E|FPR2_ENST00000340023.6_Silent_p.E188E	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	188					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GCACCCCTGAGGAGAGGCTGA	0.483000													40	65					0	0	0.008740	0	0
OR4C6	219432	broad.mit.edu	37	11	55432871	55432871	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:55432871C>A	ENST00000314259.3	+	1	258	c.229C>A	c.(229-231)Ccc>Acc	p.P77T		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGTCGTTGCCCCCAAGGTGAT	0.463000													32	69					3.90053e-15	6.11154e-15	0.002445	1	0
GPR158	57512	broad.mit.edu	37	10	25840014	25840014	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:25840014G>T	ENST00000376351.3	+	6	1873	c.1514_splice	c.e6+1	p.R505_splice		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	505						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R505T(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AAACTTCACAGGTATATACAT	0.408000													12	29					7.03913e-09	9.0906e-09	0.001368	1	0
NPEPPS	9520	broad.mit.edu	37	17	45669379	45669379	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:45669379A>G	ENST00000322157.4	+	11	1555	c.1318A>G	c.(1318-1320)Aaa>Gaa	p.K440E	NPEPPS_ENST00000544660.1_Missense_Mutation_p.K360E|NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000530173.1_Missense_Mutation_p.K436E	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	440					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						ATCATATAGCAAAGGTGCATC	0.383000													4	72					0	0	0.000602	0	0
RIMS1	22999	broad.mit.edu	37	6	72889554	72889554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:72889554C>T	ENST00000264839.7	+	5	748	c.748C>T	c.(748-750)Caa>Taa	p.Q250*	RIMS1_ENST00000521978.1_Nonsense_Mutation_p.Q250*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.Q250*|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.Q250*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.Q250*|RIMS1_ENST00000522291.1_Nonsense_Mutation_p.Q250*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.Q250*|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.Q250*			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	250					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCCCTCGCAGCAAGCCTTGGG	0.572000													15	3					0	0	0.002450	0	0
ANKS1B	56899	broad.mit.edu	37	12	100377919	100377919	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:100377919C>T	ENST00000547776.2	-	1	96	c.97G>A	c.(97-99)Ggt>Agt	p.G33S	ANKS1B_ENST00000329257.7_Missense_Mutation_p.G33S|ANKS1B_ENST00000547010.1_5'UTR	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	33						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CCGGATCCACCGCCCAGGATC	0.577000													23	6					0	0	0.002780	0	0
LINC00521	256369	broad.mit.edu	37	14	94469586	94469586	+	RNA	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:94469586G>T	ENST00000444118.1	+	0	1164					NR_024182.1																						AGATCCGGCTGTGTCAGCTGC	0.562000													18	3					5.03518e-11	7.04826e-11	0.007413	1	0
CCDC129	223075	broad.mit.edu	37	7	31683159	31683159	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:31683159C>A	ENST00000319386.3	+	11	2724	c.1731C>A	c.(1729-1731)gcC>gcA	p.A577A	CCDC129_ENST00000409210.1_Silent_p.A633A|CCDC129_ENST00000407970.3_Silent_p.A725A|CCDC129_ENST00000451887.2_Silent_p.A751A			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	725										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GGGCTGTGGCCTTGGGGACTG	0.507000													25	37					4.26978e-12	6.17181e-12	0.003330	1	0
PKD1L2	114780	broad.mit.edu	37	16	81187854	81187854	+	RNA	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:81187854G>T	ENST00000533478.1	-	0	2270				PKD1L2_ENST00000525539.1_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						TTGAGGACGTGGCTGCCCCTC	0.537000													10	14					1.5842e-08	2.02014e-08	0.001855	1	0
HELLS	3070	broad.mit.edu	37	10	96306165	96306165	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:96306165G>T	ENST00000348459.5	+	2	168	c.63G>T	c.(61-63)ctG>ctT	p.L21L	HELLS_ENST00000394044.1_Silent_p.L21L|HELLS_ENST00000394045.1_Silent_p.L21L|HELLS_ENST00000371332.4_Silent_p.L21L|HELLS_ENST00000394036.1_Silent_p.L21L|HELLS_ENST00000239026.6_Silent_p.L21L	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	21					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TTGAACAACTGGACACTGCTG	0.463000													29	18					1.55811e-20	2.80381e-20	0.008361	1	0
MYO9A	4649	broad.mit.edu	37	15	72195371	72195371	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:72195371G>A	ENST00000356056.5	-	22	3383	c.2911C>T	c.(2911-2913)Cga>Tga	p.R971*	MYO9A_ENST00000564571.1_Nonsense_Mutation_p.R971*|MYO9A_ENST00000444904.1_Nonsense_Mutation_p.R952*|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.R971*|MYO9A_ENST00000566885.1_Nonsense_Mutation_p.R591*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	971	Myosin head-like 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	p.R971R(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATAATATTTCGGGGAAGAAGT	0.274000													5	20					0	0	0.001168	0	0
FAM71B	153745	broad.mit.edu	37	5	156589873	156589873	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:156589873C>G	ENST00000302938.4	-	2	1498	c.1403G>C	c.(1402-1404)cGg>cCg	p.R468P		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	468						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGATGCGGACCGGTGGGAAGA	0.527000													58	16					0	0	0.003610	0	0
OR5K4	403278	broad.mit.edu	37	3	98073254	98073254	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:98073254G>T	ENST00000354924.2	+	1	557	c.557G>T	c.(556-558)aGa>aTa	p.R186I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						CCACTGTATAGACTCTCCTGT	0.328000													74	7					1.93348e-29	3.90551e-29	0.003610	1	0
COLEC10	10584	broad.mit.edu	37	8	120114614	120114614	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:120114614G>T	ENST00000332843.2	+	4	361	c.320G>T	c.(319-321)gGa>gTa	p.G107V	COLEC10_ENST00000521788.1_3'UTR	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	107	Collagen-like.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GGTTTGCTTGGAATACCTGGA	0.299000													13	9					3.45872e-05	3.92357e-05	0.004007	1	0
DDX60L	91351	broad.mit.edu	37	4	169312708	169312708	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:169312708C>A	ENST00000511577.1	-	29	4145	c.3898G>T	c.(3898-3900)Gct>Tct	p.A1300S	DDX60L_ENST00000505890.1_Missense_Mutation_p.A1301S|DDX60L_ENST00000260184.7_Missense_Mutation_p.A1300S			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1300	Helicase C-terminal.						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)		TAATTTAAAGCATCCAGATAG	0.413000													9	0					1.12685e-05	1.29803e-05	0.004482	1	0
ZSCAN10	84891	broad.mit.edu	37	16	3140419	3140419	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:3140419G>T	ENST00000252463.2	-	5	938	c.851C>A	c.(850-852)cCc>cAc	p.P284H	ZSCAN10_ENST00000538082.2_Missense_Mutation_p.P202H|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	284					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						ATTGGGCTCGGGGACGCCCTC	0.657000													32	44					2.48696e-23	4.67706e-23	0.003271	1	0
CDH22	64405	broad.mit.edu	37	20	44845556	44845556	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:44845556G>T	ENST00000372262.3	-	4	1147	c.747C>A	c.(745-747)gaC>gaA	p.D249E	CDH22_ENST00000537909.1_Missense_Mutation_p.D249E|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	249	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GACCCGCCATGTCTGTGGCCT	0.642000													20	34					3.83957e-06	4.52202e-06	0.002780	1	0
STC2	8614	broad.mit.edu	37	5	172745123	172745123	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:172745123G>T	ENST00000265087.4	-	4	1945	c.636C>A	c.(634-636)acC>acA	p.T212T		NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	212					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGATGGCCGAGGTGCAGAAGC	0.647000													13	9					0.000151284	0.00016812	0.001855	1	0
MXRA5	25878	broad.mit.edu	37	X	3240313	3240313	+	Missense_Mutation	SNP	G	G	T	rs140078324	byFrequency	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:3240313G>T	ENST00000217939.6	-	5	3567	c.3413C>A	c.(3412-3414)cCg>cAg	p.P1138Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1138						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)				GGTGGATGACGGAGCAACTTT	0.527000													31	6					3.1745e-13	4.74835e-13	0.008361	1	0
ZNF566	84924	broad.mit.edu	37	19	36940594	36940594	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:36940594C>G	ENST00000454319.1	-	5	679	c.545G>C	c.(544-546)aGa>aCa	p.R182T	ZNF566_ENST00000392170.2_Missense_Mutation_p.R182T|ZNF566_ENST00000424129.2_Missense_Mutation_p.R181T|ZNF566_ENST00000434377.2_Missense_Mutation_p.R181T|ZNF566_ENST00000493391.1_Missense_Mutation_p.R77T	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					TGAGCCATGTCTAAAGGTTTT	0.378000													29	60					0	0	0.006320	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51960828	51960828	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:51960828G>T	ENST00000321424.3	-	2	686	c.620C>A	c.(619-621)tCa>tAa	p.S207*	SIGLEC8_ENST00000340550.5_Intron|SIGLEC8_ENST00000430817.1_Intron	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	207	Ig-like C2-type 1.				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)		GGTGAGCACTGAGGAGCGGGC	0.662000													37	38					1.58521e-26	3.09617e-26	0.005524	1	0
PTPRD	5789	broad.mit.edu	37	9	8528597	8528597	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:8528597G>T	ENST00000381196.4	-	12	1078	c.535C>A	c.(535-537)Cga>Aga	p.R179R	PTPRD_ENST00000397606.3_Silent_p.R179R|PTPRD_ENST00000397611.3_Silent_p.R179R|PTPRD_ENST00000397617.3_Silent_p.R179R|PTPRD_ENST00000463477.1_Silent_p.R179R|PTPRD_ENST00000540109.1_Silent_p.R179R|PTPRD_ENST00000537002.1_Silent_p.R179R|PTPRD_ENST00000358503.5_Silent_p.R179R|PTPRD_ENST00000360074.4_Silent_p.R179R|PTPRD_ENST00000486161.1_Silent_p.R179R|PTPRD_ENST00000356435.5_Silent_p.R179R|PTPRD_ENST00000355233.5_Silent_p.R179R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	179	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R179*(4)		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)		CTACCTGATCGTAACTGCTTA	0.328000										TSP Lung(15;0.13)			20	38					1.96292e-10	2.67123e-10	0.010504	1	0
CCDC134	79879	broad.mit.edu	37	22	42204948	42204948	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:42204948G>T	ENST00000255784.5	+	2	158	c.54G>T	c.(52-54)atG>atT	p.M18I	CCDC134_ENST00000402061.3_Missense_Mutation_p.M18I	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	18						extracellular region				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						TGTCTGGGATGGGAGCCACAG	0.483000													13	32					1.49906e-05	1.72119e-05	0.002450	1	0
KLHL14	57565	broad.mit.edu	37	18	30260411	30260411	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:30260411G>T	ENST00000359358.4	-	6	1828	c.1390C>A	c.(1390-1392)Cat>Aat	p.H464N		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	464						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GCTCCCGCATGAGCCGCCAGA	0.463000													19	60					3.32936e-07	4.04891e-07	0.006122	1	0
COL6A2	1292	broad.mit.edu	37	21	47540982	47540982	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr21:47540982G>A	ENST00000300527.4	+	17	1507	c.1403G>A	c.(1402-1404)cGa>cAa	p.R468Q	COL6A2_ENST00000397763.1_Missense_Mutation_p.R468Q|COL6A2_ENST00000409416.1_Missense_Mutation_p.R468Q|COL6A2_ENST00000357838.4_Missense_Mutation_p.R468Q|COL6A2_ENST00000310645.5_Missense_Mutation_p.R468Q	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	468	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CAGGGAGACCGAGGCTTGCCT	0.637000													14	10					0	0	0.003163	0	0
FAH	2184	broad.mit.edu	37	15	80460463	80460463	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:80460463G>A	ENST00000539156.1	+	5	2553	c.315G>A	c.(313-315)agG>agA	p.R105R	FAH_ENST00000407106.1_Silent_p.R175R|FAH_ENST00000558627.1_3'UTR|FAH_ENST00000561421.1_Silent_p.R175R|FAH_ENST00000261755.5_Silent_p.R175R			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	175					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAATCCGAAGGCCCATGGGAC	0.587000									Tyrosinemia, type 1				14	14					0	0	0.002450	0	0
FGD5	152273	broad.mit.edu	37	3	14861949	14861949	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:14861949C>A	ENST00000285046.5	+	1	1481	c.1371C>A	c.(1369-1371)ggC>ggA	p.G457G	FGD5_ENST00000543601.1_Silent_p.G216G	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	457					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						GTGGTTATGGCTCGAAAGAAG	0.647000													29	5					4.22769e-11	5.93552e-11	0.006320	1	0
CSNK1G3	1456	broad.mit.edu	37	5	122881511	122881511	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:122881511G>T	ENST00000395412.1	+	2	873	c.154G>T	c.(154-156)Ggc>Tgc	p.G52C	CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.G52C|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.G52C|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.G52C|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.G52C|CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000361991.2_Missense_Mutation_p.G52C|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.G52C	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	52	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AATTGGATGTGGCAATTTTGG	0.333000													16	5					8.28177e-16	1.32996e-15	0.007413	1	0
GPRC5B	51704	broad.mit.edu	37	16	19883423	19883423	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:19883423C>T	ENST00000300571.2	-	2	936	c.745G>A	c.(745-747)Gcc>Acc	p.A249T	GPRC5B_ENST00000569479.1_Missense_Mutation_p.A249T|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A275T|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A249T|GPRC5B_ENST00000569847.1_Missense_Mutation_p.A249T	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	249										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						GTCATCCAGGCCACCCAGATG	0.622000													9	30					0	0	0.004482	0	0
CLEC4G	339390	broad.mit.edu	37	19	7794773	7794773	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:7794773C>A	ENST00000328853.5	-	8	745	c.677G>T	c.(676-678)aGg>aTg	p.R226M		NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	226	C-type lectin.					integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						GCGCACAGCCCTCAGGCCCAG	0.647000													20	5					3.8784e-16	6.25663e-16	0.001882	1	0
TRIM67	440730	broad.mit.edu	37	1	231342533	231342533	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:231342533G>A	ENST00000444294.3	+	7	2668	c.1810G>A	c.(1810-1812)Gat>Aat	p.D604N	TRIM67_ENST00000449018.3_Missense_Mutation_p.D544N|TRIM67_ENST00000366653.5_Missense_Mutation_p.D606N|TRIM67_ENST00000366652.2_Missense_Mutation_p.D606N	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	606	B30.2/SPRY.|Fibronectin type-III.					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)				GCAGACATCCGATGGTGAGCA	0.502000													14	3					0	0	0.001855	0	0
ZNF626	199777	broad.mit.edu	37	19	20807979	20807979	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:20807979C>A	ENST00000601440.1	-	4	850	c.704G>T	c.(703-705)gGc>gTc	p.G235V	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AAAGGCTTTGCCACATTCTTC	0.388000													32	32					8.16721e-17	1.34664e-16	0.002096	1	0
AGMO	392636	broad.mit.edu	37	7	15599808	15599808	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:15599808G>T	ENST00000342526.3	-	2	384	c.215C>A	c.(214-216)gCt>gAt	p.A72D		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	72					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TGACGTTAAAGCATCATCCAG	0.448000													34	43					9.8876e-21	1.78607e-20	0.004878	1	0
GLRA2	2742	broad.mit.edu	37	X	14625390	14625390	+	Splice_Site	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:14625390G>A	ENST00000218075.4	+	6	1245	c.715_splice	c.e6+1	p.G239_splice	GLRA2_ENST00000443437.2_Splice_Site_p.G150_splice|GLRA2_ENST00000355020.4_Splice_Site_p.G239_splice	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	239					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	CTACAACACTGGTAAGTTTCT	0.388000													16	8					0	0	0.010504	0	0
OR10T2	128360	broad.mit.edu	37	1	158368578	158368578	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:158368578G>T	ENST00000334438.1	-	1	678	c.679C>A	c.(679-681)Ctg>Atg	p.L227M		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GGGATCTTCAGGATGGTGTTA	0.458000													15	22					3.27435e-08	4.13081e-08	0.002450	1	0
FAM131B	9715	broad.mit.edu	37	7	143056081	143056081	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:143056081G>A	ENST00000409408.1	-	4	1929	c.221C>T	c.(220-222)cCc>cTc	p.P74L	FAM131B_ENST00000409222.3_Missense_Mutation_p.P74L|FAM131B_ENST00000409346.1_Missense_Mutation_p.P74L|FAM131B_ENST00000443739.2_Missense_Mutation_p.P102L|FAM131B_ENST00000409578.1_Missense_Mutation_p.P90L			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	74										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CATGGCTGTGGGCTTTGTCAC	0.577000													14	5					0	0	0.002450	0	0
C19orf73	55150	broad.mit.edu	37	19	49622182	49622182	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:49622182T>A	ENST00000408991.2	-	1	215	c.98A>T	c.(97-99)cAt>cTt	p.H33L		NM_018111.2	NP_060581.2	Q9NVV2	CS073_HUMAN	chromosome 19 open reading frame 73	33										large_intestine(1)|lung(2)	3						GGGTGCAGAATGAGGTGCCCT	0.682000													32	35					0	0	0.002096	0	0
ZNF479	90827	broad.mit.edu	37	7	57193727	57193727	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:57193727G>T	ENST00000331162.4	-	4	530	c.260C>A	c.(259-261)cCa>cAa	p.P87Q		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	87	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TCACCTACCTGGGTGTTTGGC	0.453000													33	41					1.99505e-19	3.51864e-19	0.002445	1	0
GPX1	2876	broad.mit.edu	37	3	49395450	49395450	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:49395450C>T	ENST00000419349.1	-	1	266	c.262G>A	c.(262-264)Gcg>Acg	p.A88T	GPX1_ENST00000496791.1_Intron|GPX1_ENST00000419783.1_Intron	NM_201397.1	NP_958799.1	P07203	GPX1_HUMAN	glutathione peroxidase 1	179					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	ccccgctccgcccGGCGCACC	0.731000													4	4					0	0	0.009096	0	0
PAPPA	5069	broad.mit.edu	37	9	118969867	118969867	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:118969867C>A	ENST00000328252.3	+	3	1980	c.1611C>A	c.(1609-1611)gcC>gcA	p.A537A	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	537	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ACAAGGAGGCCCTGATGCACT	0.433000													15	30					0.000308642	0.000335367	0.003163	1	0
TRIOBP	11078	broad.mit.edu	37	22	38120968	38120968	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:38120968G>T	ENST00000406386.3	+	7	2660	c.2405G>T	c.(2404-2406)aGa>aTa	p.R802I	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	802					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)					GACAATCTCAGAGCCTCCTCT	0.527000													26	40					1.55469e-16	2.54568e-16	0.003330	1	0
KRTAP1-1	81851	broad.mit.edu	37	17	39197547	39197547	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:39197547A>G	ENST00000306271.4	-	1	166	c.103T>C	c.(103-105)Tgc>Cgc	p.C35R		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	35			Missing (in allele KAP1.7).|PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6).			extracellular region|keratin filament				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CGTGGCTGGCAGGAGCTGGTC	0.617000													37	106					0	0	0.004878	0	0
PCDH17	27253	broad.mit.edu	37	13	58299198	58299198	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:58299198C>A	ENST00000377918.3	+	4	3276	c.3250C>A	c.(3250-3252)Caa>Aaa	p.Q1084K		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1084					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)		ACCTAGTAAGCAACCAAGAGA	0.532000													35	47					4.4194e-11	6.19853e-11	0.002836	1	0
SNTG2	54221	broad.mit.edu	37	2	1251116	1251116	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:1251116G>T	ENST00000308624.5	+	12	1035	c.906G>T	c.(904-906)tgG>tgT	p.W302C	SNTG2_ENST00000407292.1_Missense_Mutation_p.W175C	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	302	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		ATATGGGGTGGGTAAATGAGA	0.502000													8	14					1.06961e-07	1.33162e-07	0.003080	1	0
TMEM8A	58986	broad.mit.edu	37	16	424377	424377	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:424377C>A	ENST00000431232.2	-	10	1759	c.1599G>T	c.(1597-1599)acG>acT	p.T533T	TMEM8A_ENST00000250930.3_Silent_p.T340T	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	533	EGF-like.				cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						TGCTGTTGTCCGTGCAGCTCC	0.682000											OREG0003702	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	10	23					0.000442599	0.000477267	0.006214	1	0
TMOD3	29766	broad.mit.edu	37	15	52192420	52192420	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:52192420G>A	ENST00000308580.7	+	8	1085	c.804G>A	c.(802-804)acG>acA	p.T268T	RP11-56B16.5_ENST00000558142.1_RNA|TMOD3_ENST00000544199.1_Silent_p.T268T	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	268						cytoplasm|cytoskeleton	actin binding|tropomyosin binding	p.T268T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		ACTTTATCACGGGAGTTGGGA	0.368000													7	18					0	0	0.001984	0	0
PEX6	5190	broad.mit.edu	37	6	42934080	42934080	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:42934080C>A	ENST00000304611.8	-	11	2269	c.2200G>T	c.(2200-2202)Ggc>Tgc	p.G734C	PEX6_ENST00000244546.4_Intron	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	734					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			CGTCTCAGGCCCAGGCTCAGT	0.622000													15	2					6.72482e-11	9.34882e-11	0.003163	1	0
SLC30A8	169026	broad.mit.edu	37	8	118147573	118147573	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:118147573T>A	ENST00000456015.2	+	1	7	c.7T>A	c.(7-9)Ttt>Att	p.F3I	SLC30A8_ENST00000521035.1_3'UTR|SLC30A8_ENST00000427715.2_5'UTR|SLC30A8_ENST00000521243.1_Intron|SLC30A8_ENST00000519688.1_5'UTR	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	3					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CGTCATGGAGTTTCTTGAAAG	0.418000													23	120					0	0	0.003330	0	0
ARIH1	25820	broad.mit.edu	37	15	72873134	72873134	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:72873134G>T	ENST00000379887.4	+	12	1592	c.1278G>T	c.(1276-1278)caG>caT	p.Q426H	ARIH1_ENST00000562891.1_3'UTR	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	426					ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						ACCACATGCAGAGCCTGCGCT	0.453000													9	23					0.00448238	0.00475394	0.004482	1	0
BIRC2	329	broad.mit.edu	37	11	102239280	102239280	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:102239280G>T	ENST00000227758.2	+	6	2765		c.e6+1		BIRC2_ENST00000530675.1_Splice_Site|BIRC2_ENST00000527910.1_Splice_Site|BIRC2_ENST00000532672.1_Splice_Site	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2						cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		ATGGCATCAGGTATTTGGGGA	0.398000													19	13					2.4624e-09	3.22408e-09	0.008871	1	0
BCL11A	53335	broad.mit.edu	37	2	60679770	60679770	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:60679770G>T	ENST00000538214.1	-	4	2446	c.2312C>A	c.(2311-2313)cCc>cAc	p.P771H	BCL11A_ENST00000356842.4_Silent_p.T754T|BCL11A_ENST00000537768.1_Silent_p.T423T|BCL11A_ENST00000359629.5_Missense_Mutation_p.P221H			Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	0					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GAGCTCTCTGGGTACTACGCC	0.522000			T	IGH@	B-CLL								70	9					6.86016e-32	1.40777e-31	0.003610	1	0
UBBP4	23666	broad.mit.edu	37	17	21731007	21731007	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:21731007G>T	ENST00000584755.1	+	2	706	c.309G>T	c.(307-309)aaG>aaT	p.K103N	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.K103N|UBBP4_ENST00000584398.1_3'UTR																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						AAAATGTGAAGGCCAAGATCC	0.547000													15	36					8.28177e-16	1.32996e-15	0.007413	1	0
AMZ2P1	201283	broad.mit.edu	37	17	62968961	62968961	+	RNA	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:62968961C>A	ENST00000430983.1	-	0	1374					NR_026903.1																						CAGTTTTACTCTCAAGCGATA	0.368000													4	23					0.00024832	0.000272116	0.009096	1	0
ERBB4	2066	broad.mit.edu	37	2	212578300	212578300	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:212578300C>A	ENST00000342788.4	-	8	1267	c.957G>T	c.(955-957)ggG>ggT	p.G319G	ERBB4_ENST00000436443.1_Silent_p.G319G|ERBB4_ENST00000402597.1_Silent_p.G319G	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	319	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACATTTTAATCCCATTTTCTT	0.358000										TSP Lung(8;0.080)			16	1					2.39187e-15	3.77272e-15	0.008871	1	0
SCARA3	51435	broad.mit.edu	37	8	27528514	27528514	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:27528514G>C	ENST00000301904.3	+	6	1487	c.1467G>C	c.(1465-1467)ttG>ttC	p.L489F	SCARA3_ENST00000337221.4_Intron	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	489	Collagen-like 1.				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		CCGGCAGCTTGGGCCCCCTGG	0.677000													7	6					0	0	0.001984	0	0
IGDCC3	9543	broad.mit.edu	37	15	65667730	65667730	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:65667730G>T	ENST00000327987.4	-	2	365	c.114C>A	c.(112-114)caC>caA	p.H38Q		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	38	Ig-like C2-type 1.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTTCAGCAGAGTGGCCAAGAC	0.552000													7	4					1.06961e-07	1.33162e-07	0.003080	1	0
C8orf74	203076	broad.mit.edu	37	8	10555225	10555225	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:10555225C>A	ENST00000304519.5	+	3	387	c.358C>A	c.(358-360)Cgc>Agc	p.R120S	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	120										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		CACCTTCATCCGCCACTACAA	0.597000													23	16					3.83957e-06	4.52202e-06	0.002780	1	0
PCDH11X	27328	broad.mit.edu	37	X	91873433	91873433	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:91873433G>T	ENST00000373094.1	+	7	4383	c.3538G>T	c.(3538-3540)Gcc>Tcc	p.A1180S	PCDH11X_ENST00000298274.8_Missense_Mutation_p.A1143S|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A1162S|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A1143S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A1172S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A1170S|PCDH11X_ENST00000504220.1_3'UTR	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1180					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACTGTCACAGGCCTCTACTCA	0.592000													39	96					4.92203e-23	9.23205e-23	0.006230	1	0
NAA35	60560	broad.mit.edu	37	9	88635851	88635851	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:88635851G>T	ENST00000361671.5	+	22	2218	c.2085G>T	c.(2083-2085)aaG>aaT	p.K695N		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	695					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						TGGTTATGAAGTTATTGGCAG	0.313000													11	8					2.27111e-07	2.78103e-07	0.001368	1	0
AUTS2	26053	broad.mit.edu	37	7	69364473	69364473	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:69364473G>C	ENST00000342771.4	+	2	832	c.511G>C	c.(511-513)Gca>Cca	p.A171P	AUTS2_ENST00000406775.2_Missense_Mutation_p.A171P|AUTS2_ENST00000403018.2_Missense_Mutation_p.A171P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	171										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AATGCCGAAGGCACTCAGACA	0.517000													20	52					0	0	0.010504	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85460613	85460613	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:85460613G>T	ENST00000393217.2	+	10	2693	c.2632G>T	c.(2632-2634)Ggt>Tgt	p.G878C		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	878										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTCTCTTCATGGTTTGGATGG	0.284000													18	5					0.00074312	0.000795879	0.006122	1	0
SEMA5A	9037	broad.mit.edu	37	5	9044566	9044566	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:9044566G>T	ENST00000382496.5	-	22	3689	c.3024C>A	c.(3022-3024)ccC>ccA	p.P1008P	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	1008					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CAGGTGAGACGGGGTGGATGA	0.532000													23	57					1.10513e-12	1.63068e-12	0.002299	1	0
THOC2	57187	broad.mit.edu	37	X	122760512	122760512	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:122760512G>T	ENST00000245838.8	-	24	2790	c.2757_splice	c.e24-1	p.P920_splice	THOC2_ENST00000491737.1_Splice_Site_p.P805_splice|THOC2_ENST00000355725.4_Splice_Site_p.P920_splice	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	920					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTTATTTGGGGGCTACAAAGA	0.338000													18	36					3.62473e-10	4.89511e-10	0.001882	1	0
TMEM116	89894	broad.mit.edu	37	12	112375995	112375995	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:112375995C>A	ENST00000354825.3	-	8	714	c.59G>T	c.(58-60)cGa>cTa	p.R20L	TMEM116_ENST00000549537.2_5'UTR|TMEM116_ENST00000437003.2_Missense_Mutation_p.R20L|TMEM116_ENST00000355445.3_Missense_Mutation_p.R77L|TMEM116_ENST00000552374.2_Missense_Mutation_p.R112L|TMEM116_ENST00000550831.3_Missense_Mutation_p.R20L			Q8NCL8	TM116_HUMAN	transmembrane protein 116	20						integral to membrane				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						TTGACAAACTCGACAAGTATA	0.323000													14	42					2.61681e-11	3.70324e-11	0.002450	1	0
KIR3DL1	3811	broad.mit.edu	37	19	55341671	55341671	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:55341671A>T	ENST00000391728.4	+	9	1309	c.1276A>T	c.(1276-1278)Atc>Ttc	p.I426F	KIR3DL1_ENST00000358178.4_Missense_Mutation_p.I331F|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.I409F|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.I426F|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.I409F|KIR3DL1_ENST00000402254.2_Intron	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TACAGATACCATCTTGTACAC	0.517000													243	221					0	0	0.003610	0	0
AAK1	22848	broad.mit.edu	37	2	69769699	69769699	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:69769699G>A	ENST00000409085.4	-	5	866	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C	AAK1_ENST00000409068.1_Missense_Mutation_p.R164C|AAK1_ENST00000406297.3_Missense_Mutation_p.R164C|AAK1_ENST00000470281.1_5'UTR	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	164	Protein kinase.					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						TGATGCAGGCGGGCAACAGCT	0.488000													40	44					0	0	0.006230	0	0
OCA2	4948	broad.mit.edu	37	15	28260048	28260048	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:28260048G>T	ENST00000354638.3	-	9	1073	c.918C>A	c.(916-918)gcC>gcA	p.A306A	OCA2_ENST00000382996.2_Silent_p.A306A|OCA2_ENST00000353809.5_Silent_p.A306A	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	306					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCTGCAGGGAGGCCCGGATGC	0.577000									Oculocutaneous Albinism				8	16					5.18039e-06	6.07593e-06	0.003080	1	0
LRRC7	57554	broad.mit.edu	37	1	70504652	70504652	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:70504652G>C	ENST00000310961.5	+	22	3464	c.3046G>C	c.(3046-3048)Gga>Cga	p.G1016R	LRRC7_ENST00000415775.2_Missense_Mutation_p.G295R|LRRC7_ENST00000035383.5_Missense_Mutation_p.G1011R			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1011						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						GCTCACCTACGGAAGTAGTAA	0.468000													12	4					0	0	0.001855	0	0
ASTN1	460	broad.mit.edu	37	1	177001871	177001871	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:177001871C>T	ENST00000367654.2	-	3	599	c.586G>A	c.(586-588)Gag>Aag	p.E196K	ASTN1_ENST00000367657.3_Missense_Mutation_p.E196K|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.E196K|ASTN1_ENST00000424564.2_Missense_Mutation_p.E196K			O14525	ASTN1_HUMAN	astrotactin 1	196					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						TTGGCTGCCTCAGCACTGGCA	0.627000													35	42					0	0	0.003271	0	0
LAMC3	10319	broad.mit.edu	37	9	133942388	133942388	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:133942388C>A	ENST00000361069.4	+	14	2522	c.2389C>A	c.(2389-2391)Ccg>Acg	p.P797T	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	797	Laminin EGF-like 7.				cell adhesion	basement membrane|membrane	structural molecule activity	p.P797S(1)		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)		TTTTGGGGACCCGCTGGGGCT	0.647000													20	26					1.33834e-09	1.76045e-09	0.007413	1	0
NOBOX	135935	broad.mit.edu	37	7	144096938	144096938	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:144096938G>T	ENST00000467773.1	-	6	1065	c.1066C>A	c.(1066-1068)Cgg>Agg	p.R356R	NOBOX_ENST00000223140.5_Silent_p.R239R|NOBOX_ENST00000483238.1_Silent_p.R324R	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	356					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CACTTGGCCCGGCGATTCTGG	0.537000													8	5					0.000157383	0.000174215	0.003080	1	0
MYCBP2	23077	broad.mit.edu	37	13	77748563	77748563	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:77748563C>T	ENST00000407578.2	-	37	5800	c.5534G>A	c.(5533-5535)gGa>gAa	p.G1845E	MYCBP2_ENST00000357337.6_Missense_Mutation_p.G1807E|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.G1807E	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1807					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GGTCATTCCTCCATCTCCATT	0.438000													18	27					0	0	0.007413	0	0
RLIM	51132	broad.mit.edu	37	X	73811407	73811407	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:73811407G>T	ENST00000332687.6	-	4	1961	c.1743C>A	c.(1741-1743)aaC>aaA	p.N581K	RLIM_ENST00000349225.2_Missense_Mutation_p.N581K	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	581					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TACGAAGTTTGTTGCCTTCTG	0.403000													27	36					6.04164e-23	1.13171e-22	0.002096	1	0
COL1A2	1278	broad.mit.edu	37	7	94059592	94059592	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:94059592G>C	ENST00000297268.6	+	52	4459	c.3988G>C	c.(3988-3990)Gaa>Caa	p.E1330Q		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1330	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GACAATCATTGAATACAAAAC	0.388000										HNSCC(75;0.22)			53	40					0	0	0.003610	0	0
RAB3IL1	5866	broad.mit.edu	37	11	61675767	61675767	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:61675767G>C	ENST00000394836.2	-	2	180	c.23C>G	c.(22-24)cCa>cGa	p.P8R	RAB3IL1_ENST00000301773.5_Missense_Mutation_p.P55R	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	8							protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						GCCCTGGTCTGGCTGGGGTGG	0.682000													4	7					0	0	0.000602	0	0
ACSL1	2180	broad.mit.edu	37	4	185681540	185681540	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:185681540G>A	ENST00000515030.1	-	18	2078	c.1753C>T	c.(1753-1755)Cag>Tag	p.Q585*	ACSL1_ENST00000454703.2_Nonsense_Mutation_p.Q414*|ACSL1_ENST00000437665.3_Nonsense_Mutation_p.Q414*|ACSL1_ENST00000504342.1_Nonsense_Mutation_p.Q585*|ACSL1_ENST00000507295.1_Nonsense_Mutation_p.Q551*|ACSL1_ENST00000513317.1_Nonsense_Mutation_p.Q585*|ACSL1_ENST00000281455.2_Nonsense_Mutation_p.Q585*			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	585					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ACAAACACCTGAGCAACAGGC	0.448000													160	35					0	0	0.003610	0	0
PRF1	5551	broad.mit.edu	37	10	72360455	72360455	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:72360455C>A	ENST00000441259.1	-	2	364	c.204G>T	c.(202-204)cgG>cgT	p.R68R	PRF1_ENST00000373209.2_Silent_p.R68R	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	68	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TGCCGTCGGGCCGCAGGAACC	0.677000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				12	9					1.08611e-07	1.34624e-07	0.000978	1	0
SUN1	23353	broad.mit.edu	37	7	891585	891585	+	Splice_Site	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:891585A>T	ENST00000456758.2	+	13	1324		c.e13-1		SUN1_ENST00000389574.3_Splice_Site|SUN1_ENST00000401592.1_Splice_Site|SUN1_ENST00000452783.2_Splice_Site|SUN1_ENST00000405266.1_Splice_Site|SUN1_ENST00000413514.2_Splice_Site|SUN1_ENST00000425407.2_Splice_Site			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1						cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTCTCTTGTAGGGAAGGCAG	0.428000													21	33					0	0	0.002299	0	0
ABCD1	215	broad.mit.edu	37	X	153001804	153001804	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:153001804G>T	ENST00000218104.3	+	4	1629	c.1230G>T	c.(1228-1230)acG>acT	p.T410T	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	410					fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCAGGTGACGGAGCTGGCTG	0.622000													20	67					2.54575e-18	4.38091e-18	0.010504	1	0
TMEM132B	114795	broad.mit.edu	37	12	126139074	126139074	+	Missense_Mutation	SNP	C	C	A	rs111507651		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:126139074C>A	ENST00000299308.3	+	9	3063	c.3055C>A	c.(3055-3057)Cca>Aca	p.P1019T	TMEM132B_ENST00000535886.1_Missense_Mutation_p.P531T	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1019						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)		TTCTTCGGGCCCAAAGAGGAA	0.453000													14	17					2.61681e-11	3.70324e-11	0.002450	1	0
SLC22A25	387601	broad.mit.edu	37	11	62931309	62931309	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:62931309C>A	ENST00000306494.6	-	9	1630	c.1631G>T	c.(1630-1632)aGc>aTc	p.S544I	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	544					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TAGCACAGAGCTCCTCTGAGG	0.507000													40	81					3.43241e-23	6.44657e-23	0.009718	1	0
PCSK1N	27344	broad.mit.edu	37	X	48689804	48689804	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:48689804G>A	ENST00000218230.5	-	3	749	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	PCSK1N_ENST00000476838.1_5'UTR	NM_013271.2	NP_037403.1	Q9UHG2	PCSK1_HUMAN	proprotein convertase subtilisin/kexin type 1 inhibitor	217					neuropeptide signaling pathway	extracellular space|soluble fraction	receptor binding										CGGCGGAGGCGGCGCGGGGCT	0.726000													3	4					0	0	0.004672	0	0
MAP7D3	79649	broad.mit.edu	37	X	135322608	135322608	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:135322608C>T	ENST00000316077.9	-	6	793	c.573G>A	c.(571-573)caG>caA	p.Q191Q	MAP7D3_ENST00000370661.1_Intron|MAP7D3_ENST00000370663.5_Silent_p.Q173Q	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	191						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)					CAGAAGTACCCTGTTCAAGTT	0.338000													43	34					0	0	0.003214	0	0
SYNE2	23224	broad.mit.edu	37	14	64447428	64447428	+	Nonsense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:64447428T>A	ENST00000358025.3	+	15	1856	c.1626T>A	c.(1624-1626)tgT>tgA	p.C542*	SYNE2_ENST00000344113.4_Nonsense_Mutation_p.C542*|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.C542*|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	542					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)		TTCAAAAATGTGGAGAAATTT	0.289000													9	3					0	0	0.004482	0	0
SPATA19	219938	broad.mit.edu	37	11	133715043	133715043	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:133715043G>T	ENST00000299140.3	-	2	175	c.121C>A	c.(121-123)Cat>Aat	p.H41N	SPATA19_ENST00000532889.1_Missense_Mutation_p.H41N	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	41					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)		TTCAACCAATGATGTAGTACA	0.433000													14	16					4.75885e-15	7.44818e-15	0.004990	1	0
ZFP37	7539	broad.mit.edu	37	9	115805811	115805811	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:115805811C>A	ENST00000374227.3	-	4	1114	c.1087G>T	c.(1087-1089)Gca>Tca	p.A363S	ZFP37_ENST00000553380.1_Missense_Mutation_p.A378S|ZFP37_ENST00000555206.1_Missense_Mutation_p.A364S			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	363						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TCAGTGAGTGCATGTTTATGA	0.413000													31	32					3.99451e-17	6.66378e-17	0.009535	1	0
LEPR	3953	broad.mit.edu	37	1	66075675	66075675	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:66075675G>T	ENST00000349533.6	+	13	1983	c.1798G>T	c.(1798-1800)Gtt>Ttt	p.V600F	LEPR_ENST00000406510.3_Intron|LEPR_ENST00000344610.8_Missense_Mutation_p.V600F|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371059.3_Missense_Mutation_p.V600F|LEPR_ENST00000371058.1_Missense_Mutation_p.V600F|LEPR_ENST00000371060.3_Missense_Mutation_p.V600F	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	600	Fibronectin type-III 2.				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)		CAGTCTCCCAGTTCCAGACTT	0.398000													45	14					1.81118e-26	3.53268e-26	0.003610	1	0
GRIK3	2899	broad.mit.edu	37	1	37356641	37356641	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:37356641G>T	ENST00000373091.3	-	2	188	c.172C>A	c.(172-174)Cat>Aat	p.H58N	GRIK3_ENST00000373093.4_Missense_Mutation_p.H58N	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	58					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)	CGAAAGGCATGCTCCTCGGCA	0.502000													69	19					2.69648e-15	4.24374e-15	0.003610	1	0
OR5T3	390154	broad.mit.edu	37	11	56020487	56020487	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:56020487G>C	ENST00000303059.3	+	1	812	c.812G>C	c.(811-813)tGt>tCt	p.C271S		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTCTCTACATGTGGCTCTCAC	0.418000													68	50					0	0	0.003610	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85500333	85500333	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:85500333G>A	ENST00000393217.2	+	15	3378	c.3317G>A	c.(3316-3318)tGc>tAc	p.C1106Y		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1106										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTTGATGCATGCTATTCTCTC	0.328000													43	10					0	0	0.003214	0	0
AHCYL1	10768	broad.mit.edu	37	1	110551754	110551754	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:110551754C>T	ENST00000369799.5	+	2	586	c.219C>T	c.(217-219)gaC>gaT	p.D73D	AHCYL1_ENST00000393614.4_Silent_p.D26D|AHCYL1_ENST00000359172.3_Silent_p.D26D|AHCYL1_ENST00000475081.1_3'UTR	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	73	PEST (By similarity).				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CCTCCACTGACAGCTACAGTT	0.468000													21	3					0	0	0.001882	0	0
DENND4A	10260	broad.mit.edu	37	15	65993503	65993503	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:65993503T>C	ENST00000443035.3	-	19	2802	c.2587A>G	c.(2587-2589)Aga>Gga	p.R863G	DENND4A_ENST00000431932.2_Missense_Mutation_p.R863G	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	863					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTACGACTTCTTGAAGGCCAG	0.299000													7	11					0	0	0.004482	0	0
MYOM2	9172	broad.mit.edu	37	8	2017574	2017574	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:2017574G>A	ENST00000262113.4	+	8	892	c.751G>A	c.(751-753)Gga>Aga	p.G251R	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	251					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)		AGGGTTCCGGGGAGACGAGGA	0.522000													35	57					0	0	0.004289	0	0
CDH9	1007	broad.mit.edu	37	5	26881517	26881517	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:26881517T>A	ENST00000231021.4	-	12	2270	c.2098A>T	c.(2098-2100)Ata>Tta	p.I700L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	700					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						GTCCTCCTTATCTGAAAAATA	0.403000													33	65					0	0	0.009535	0	0
CLDN8	9073	broad.mit.edu	37	21	31588042	31588042	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr21:31588042C>A	ENST00000399899.1	-	1	349	c.202G>T	c.(202-204)Gat>Tat	p.D68Y	CLDN8_ENST00000286809.1_Missense_Mutation_p.D68Y	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	68					calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						AGCAGGGAATCATAGATTTTG	0.488000													23	8					9.95505e-16	1.59506e-15	0.002299	1	0
PCDH11X	27328	broad.mit.edu	37	X	91133962	91133962	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:91133962C>G	ENST00000373094.1	+	2	3568	c.2723C>G	c.(2722-2724)cCt>cGt	p.P908R	PCDH11X_ENST00000298274.8_Missense_Mutation_p.P908R|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P908R|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P908R|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P908R|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P908R|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P908R|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P908R|PCDH11X_ENST00000504220.1_Missense_Mutation_p.P908R	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	908					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTAGACCTTCCTATTGATCTA	0.418000													50	114					0	0	0.003610	0	0
OR6K2	81448	broad.mit.edu	37	1	158669545	158669545	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:158669545C>A	ENST00000359610.2	-	1	941	c.898G>T	c.(898-900)Gaa>Taa	p.E300*		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TTTATAGCTTCTTTTATTTCT	0.378000													12	22					3.07112e-06	3.63206e-06	0.000978	1	0
CRLF1	9244	broad.mit.edu	37	19	18709629	18709629	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:18709629G>T	ENST00000392386.3	-	3	673	c.480C>A	c.(478-480)caC>caA	p.H160Q		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	160	Fibronectin type-III 1.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						AGGTCTCCCCGTGGGCCCCTG	0.607000													22	25					1.77063e-15	2.81475e-15	0.005443	1	0
PPP1R3A	5506	broad.mit.edu	37	7	113520171	113520171	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:113520171G>T	ENST00000284601.3	-	4	1044	c.976C>A	c.(976-978)Cac>Aac	p.H326N		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	326					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						CTTATTAAGTGTTGATTTATC	0.303000													16	41					1.37285e-15	2.19471e-15	0.004007	1	0
OR4S1	256148	broad.mit.edu	37	11	48328183	48328183	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:48328183C>T	ENST00000319988.1	+	1	409	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R137R(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CATGGATTGCCGGAAGTGTGG	0.577000													37	33					0	0	0.005524	0	0
LHX9	56956	broad.mit.edu	37	1	197890707	197890707	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:197890707C>A	ENST00000367390.3	+	4	651	c.624C>A	c.(622-624)aaC>aaA	p.N208K	LHX9_ENST00000561173.1_Missense_Mutation_p.N223K|LHX9_ENST00000337020.2_Missense_Mutation_p.N217K|LHX9_ENST00000367387.4_Missense_Mutation_p.N217K|LHX9_ENST00000367391.1_Missense_Mutation_p.N208K	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	217					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CTTACTTCAACGGTACGGGCA	0.632000													13	16					4.36969e-10	5.85654e-10	0.001855	1	0
FRG1	2483	broad.mit.edu	37	4	190876296	190876296	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:190876296T>A	ENST00000226798.4	+	5	644	c.422T>A	c.(421-423)gTc>gAc	p.V141D	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	141					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TGGGAACCAGTCTTTCAAAAT	0.343000													7	64					0	0	0.006214	0	0
CCER1	196477	broad.mit.edu	37	12	91347991	91347991	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:91347991C>A	ENST00000358859.2	-	1	962	c.529G>T	c.(529-531)Gag>Tag	p.E177*	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		TCTCTCCACTCATACAGCTTG	0.667000													36	12					1.60099e-16	2.61543e-16	0.004878	1	0
OR5D14	219436	broad.mit.edu	37	11	55563196	55563196	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:55563196C>T	ENST00000335605.1	+	1	165	c.165C>T	c.(163-165)ccC>ccT	p.P55P		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				AGATTAACCCCAAATTTCACA	0.388000													20	58					0	0	0.008871	0	0
TLN2	83660	broad.mit.edu	37	15	63058585	63058585	+	Silent	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:63058585A>T	ENST00000561311.1	+	40	5390	c.5160A>T	c.(5158-5160)acA>acT	p.T1720T	TLN2_ENST00000472902.1_Silent_p.T113T|TLN2_ENST00000306829.6_Silent_p.T1720T			Q9Y4G6	TLN2_HUMAN	talin 2	1720					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CCATCGCCACAGCGGCTCGGG	0.547000													18	29					0	0	0.002299	0	0
FBN2	2201	broad.mit.edu	37	5	127640704	127640704	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:127640704G>A	ENST00000508053.1	-	51	6719	c.5745C>T	c.(5743-5745)taC>taT	p.Y1915Y	FBN2_ENST00000262464.4_Silent_p.Y1915Y			P35556	FBN2_HUMAN	fibrillin 2	1915	EGF-like 31; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGATGCACTGGTAACTTCCTT	0.448000													13	3					0	0	0.001368	0	0
NLRC4	58484	broad.mit.edu	37	2	32476135	32476135	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:32476135C>G	ENST00000404025.2	-	5	1286	c.798G>C	c.(796-798)aaG>aaC	p.K266N	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.K266N|NLRC4_ENST00000402280.1_Missense_Mutation_p.K266N			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	266	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGTGGTTTTCCTTTATCAGGG	0.527000													45	41					0	0	0.003610	0	0
MEPE	56955	broad.mit.edu	37	4	88766836	88766836	+	Silent	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:88766836T>A	ENST00000497649.2	+	6	1122	c.744T>A	c.(742-744)acT>acA	p.T248T	MEPE_ENST00000560249.1_Silent_p.T159T|MEPE_ENST00000424957.3_Silent_p.T272T|MEPE_ENST00000395102.4_Silent_p.T303T|MEPE_ENST00000361056.3_Silent_p.T272T|MEPE_ENST00000540395.1_Silent_p.T159T|MEPE_ENST00000508016.1_3'UTR			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	272					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		GAGAAGCTACTGGTCCTGACC	0.448000													25	7					0	0	0.004656	0	0
XPO6	23214	broad.mit.edu	37	16	28164033	28164033	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:28164033G>A	ENST00000304658.5	-	8	1671	c.1171C>T	c.(1171-1173)Cag>Tag	p.Q391*	XPO6_ENST00000565698.1_Nonsense_Mutation_p.Q377*	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	391					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						ACAGGGAACTGGGAGTAAGAC	0.403000													10	24					0	0	0.008291	0	0
IL17B	27190	broad.mit.edu	37	5	148754126	148754126	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:148754126G>T	ENST00000261796.3	-	3	399	c.349C>A	c.(349-351)Ccg>Acg	p.P117T	RP11-394O4.3_ENST00000521756.1_RNA|IL17B_ENST00000505432.1_5'UTR	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	117					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCCTCCGGCAGGTCCACG	0.627000													10	2					7.48243e-07	9.00686e-07	0.006214	1	0
SORCS3	22986	broad.mit.edu	37	10	107022154	107022154	+	Nonsense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:107022154C>G	ENST00000369701.3	+	26	3736	c.3509C>G	c.(3508-3510)tCa>tGa	p.S1170*		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1170						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)		ATGATTGGGTCAGTGAGCCAA	0.488000													15	13					0	0	0.003163	0	0
PSD2	84249	broad.mit.edu	37	5	139218303	139218303	+	Silent	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:139218303C>G	ENST00000274710.3	+	13	2119	c.1914C>G	c.(1912-1914)tcC>tcG	p.S638S		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	638					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTCAGCTCCATGAAGAAGT	0.607000													13	3					0	0	0.001855	0	0
KRT16	3868	broad.mit.edu	37	17	39766755	39766755	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:39766755T>A	ENST00000301653.4	-	6	1172	c.1108A>T	c.(1108-1110)Atg>Ttg	p.M370L		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	370	Coil 2.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GACAGCTGCATGCAGTAGCGG	0.562000													40	38					0	0	0.006999	0	0
OR5D14	219436	broad.mit.edu	37	11	55563060	55563060	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:55563060T>A	ENST00000335605.1	+	1	29	c.29T>A	c.(28-30)aTg>aAg	p.M10K		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				AATCTGAGCATGGAGCCCACC	0.403000													43	47					0	0	0.009718	0	0
GIMAP4	55303	broad.mit.edu	37	7	150267057	150267057	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:150267057C>A	ENST00000461940.1	+	2	151	c.68C>A	c.(67-69)gCa>gAa	p.A23E	GIMAP4_ENST00000494750.1_Intron|GIMAP4_ENST00000255945.2_Intron			Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	20							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTGAGAGGGCATTCAGTGCT	0.582000													23	27					1.64293e-13	2.46788e-13	0.003330	1	0
CATSPERB	79820	broad.mit.edu	37	14	92136302	92136302	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:92136302G>T	ENST00000256343.3	-	14	1299	c.1143C>A	c.(1141-1143)gcC>gcA	p.A381A		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	381					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CAGAGGCAATGGCAGTTTTCC	0.368000													14	24					1.56452e-12	2.2942e-12	0.007413	1	0
TRGC2	6967	broad.mit.edu	37	7	38282072	38282072	+	RNA	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:38282072G>T	ENST00000436911.2	-	0	382																											CCATTGTGATGACATCTAGAA	0.338000													49	80					5.13769e-22	9.42463e-22	0.003610	1	0
STRIP2	57464	broad.mit.edu	37	7	129093097	129093097	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:129093097G>T	ENST00000249344.2	+	5	479	c.439G>T	c.(439-441)Gat>Tat	p.D147Y	STRIP2_ENST00000435494.2_Missense_Mutation_p.D147Y	NM_020704.2	NP_065755.1			striatin interacting protein 2																		TTCAGAGGTCGATGTGCTACA	0.517000													33	37					4.65686e-17	7.75051e-17	0.003755	1	0
LRRN2	10446	broad.mit.edu	37	1	204588013	204588013	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:204588013G>T	ENST00000367175.1	-	1	3320	c.1108C>A	c.(1108-1110)Ccc>Acc	p.P370T	LRRN2_ENST00000367176.3_Missense_Mutation_p.P370T|LRRN2_ENST00000367177.3_Missense_Mutation_p.P370T			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	370	LRRCT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CAGCGGATGGGGTTGCCGTGG	0.632000													39	12					4.14481e-20	7.40219e-20	0.006230	1	0
IQCA1	79781	broad.mit.edu	37	2	237308121	237308121	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:237308121T>C	ENST00000409907.3	-	9	1419	c.1145A>G	c.(1144-1146)gAa>gGa	p.E382G	IQCA1_ENST00000309507.5_Missense_Mutation_p.E378G|IQCA1_ENST00000431676.2_Missense_Mutation_p.E341G|IQCA1_ENST00000465621.1_5'UTR			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	382	Lys-rich.						ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTTCCATTTTTCGTCTTCTTC	0.453000													50	16					0	0	0.003610	0	0
ARMCX5	64860	broad.mit.edu	37	X	101857907	101857907	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:101857907G>T	ENST00000604957.1	+	1	3460	c.838G>T	c.(838-840)Gag>Tag	p.E280*	ARMCX5_ENST00000536530.1_Nonsense_Mutation_p.E280*|ARMCX5_ENST00000246174.2_Nonsense_Mutation_p.E280*|ARMCX5_ENST00000537008.1_Nonsense_Mutation_p.E280*|ARMCX5_ENST00000541409.1_Nonsense_Mutation_p.E280*|ARMCX5_ENST00000372742.1_Nonsense_Mutation_p.E280*|RP4-769N13.7_ENST00000602441.1_RNA|RP4-769N13.6_ENST00000476910.1_RNA	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	280							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						GACCTTAGCTGAGATCAAAAA	0.458000													63	63					6.12789e-21	1.10975e-20	0.003610	1	0
GPSM1	26086	broad.mit.edu	37	9	139233111	139233111	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:139233111G>T	ENST00000440944.1	+	7	1138	c.918G>T	c.(916-918)gaG>gaT	p.E306D	GPSM1_ENST00000392945.3_Missense_Mutation_p.E306D	NM_001145638.1	NP_001139110.1	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	306	Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		AGGACTACGAGCGCGCGGCCG	0.701000													7	6					2.7689e-08	3.50875e-08	0.001984	1	0
NME5	8382	broad.mit.edu	37	5	137465150	137465150	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:137465150T>A	ENST00000265191.2	-	3	186	c.137A>T	c.(136-138)aAa>aTa	p.K46I		NM_003551.2	NP_003542.1	P56597	NDK5_HUMAN	NME/NM23 family member 5	46					anti-apoptosis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatid development|UTP biosynthetic process		ATP binding|nucleoside diphosphate kinase activity|protein binding			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GAGGCGTAGTTTTCTTCTCTA	0.338000													14	0					0	0	0.004007	0	0
RYR3	6263	broad.mit.edu	37	15	33939623	33939623	+	Splice_Site	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:33939623A>T	ENST00000389232.4	+	30	4011		c.e30-1		RYR3_ENST00000415757.3_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCTTTCCCCCAGGAAACAGAT	0.358000													14	17					0	0	0.003163	0	0
APOL6	80830	broad.mit.edu	37	22	36055215	36055215	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:36055215A>C	ENST00000409652.3	+	3	880	c.604A>C	c.(604-606)Aag>Cag	p.K202Q		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	202					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						CAATGCTACCAAGCGTCTTCT	0.502000													21	45					0	0	0.010504	0	0
GINS4	84296	broad.mit.edu	37	8	41387778	41387778	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:41387778G>T	ENST00000523277.2	+	2	224	c.57G>T	c.(55-57)gtG>gtT	p.V19V	GINS4_ENST00000276533.3_Silent_p.V19V|GINS4_ENST00000518671.1_Silent_p.V19V|GINS4_ENST00000520710.1_Silent_p.V19V			Q9BRT9	SLD5_HUMAN	GINS complex subunit 4 (Sld5 homolog)	19					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			GTGAGGAAGTGGTCCTAACTC	0.468000													25	31					2.41591e-17	4.05661e-17	0.004656	1	0
SMARCA5	8467	broad.mit.edu	37	4	144469250	144469250	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:144469250C>T	ENST00000283131.3	+	22	3404	c.2942C>T	c.(2941-2943)cCt>cTt	p.P981L		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	981	SANT 2.				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CGCAACTCTCCTCAGTTCAGA	0.383000													17	4					0	0	0.006122	0	0
CSN1S1	1446	broad.mit.edu	37	4	70799955	70799955	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:70799955G>C	ENST00000246891.4	+	3	126	c.77G>C	c.(76-78)cGc>cCc	p.R26P	CSN1S1_ENST00000507763.1_Missense_Mutation_p.R26P|CSN1S1_ENST00000505782.1_Missense_Mutation_p.R26P|CSN1S1_ENST00000444405.3_Missense_Mutation_p.R26P|CSN1S1_ENST00000507772.1_Missense_Mutation_p.R26P	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	26						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						TACCCAGAACGCCTTCAGGTA	0.338000													21	6					0	0	0.003330	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913990	77913990	+	Translation_Start_Site	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:77913990C>A	ENST00000321110.1	-	0	223					NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5								nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GAGATCCTTCCTGAAAGCTGC	0.493000													3	8					0.004672	0.00493658	0.004672	1	0
OR10G7	390265	broad.mit.edu	37	11	123908878	123908878	+	Silent	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:123908878C>G	ENST00000330487.5	-	1	839	c.831G>C	c.(829-831)acG>acC	p.T277T		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GAGGAGTCAGCGTGGTGTAGA	0.502000													12	23					0	0	0.000978	0	0
PLXNA1	5361	broad.mit.edu	37	3	126751248	126751248	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:126751248G>T	ENST00000251772.4	+	29	5250	c.5181G>T	c.(5179-5181)tgG>tgT	p.W1727C	PLXNA1_ENST00000505278.1_3'UTR|PLXNA1_ENST00000393409.2_Missense_Mutation_p.W1750C			Q9UIW2	PLXA1_HUMAN	plexin A1	1750					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGCGCTTCTGGGTGAACGTGA	0.597000													66	6					5.45122e-27	1.07808e-26	0.003610	1	0
RELN	5649	broad.mit.edu	37	7	103155724	103155724	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:103155724C>T	ENST00000428762.1	-	50	8186	c.8027G>A	c.(8026-8028)aGc>aAc	p.S2676N	RELN_ENST00000343529.5_Missense_Mutation_p.S2676N|RELN_ENST00000424685.2_Missense_Mutation_p.S2676N	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2676					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)		TACTGGGGCGCTGCTGAAGGT	0.547000													12	31					0	0	0.001368	0	0
AMER3	205147	broad.mit.edu	37	2	131521632	131521632	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:131521632G>T	ENST00000423981.1	+	2	2097	c.1987G>T	c.(1987-1989)Gga>Tga	p.G663*	AMER3_ENST00000321420.4_Nonsense_Mutation_p.G663*	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																		GCCAGGTCACGGAGGTGACAC	0.652000													18	1					7.05477e-17	1.16865e-16	0.004990	1	0
DSP	1832	broad.mit.edu	37	6	7572226	7572226	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:7572226G>T	ENST00000379802.3	+	15	2396	c.2055G>T	c.(2053-2055)agG>agT	p.R685S	DSP_ENST00000418664.2_Missense_Mutation_p.R685S	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	685	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)		GCGAGGGCAGGATGACTCTCA	0.443000													28	4					7.41945e-09	9.53833e-09	0.005443	1	0
EPHB6	2051	broad.mit.edu	37	7	142562421	142562421	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:142562421G>T	ENST00000392957.2	+	7	1650	c.863G>T	c.(862-864)gGg>gTg	p.G288V	EPHB6_ENST00000442129.1_Missense_Mutation_p.G288V|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	288	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CACTGCAACGGGGAGGGCAAG	0.667000													17	36					1.5739e-10	2.16049e-10	0.004007	1	0
ANKRD17	26057	broad.mit.edu	37	4	73979623	73979623	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:73979623C>A	ENST00000358602.4	-	24	4403	c.4287G>T	c.(4285-4287)gaG>gaT	p.E1429D	ANKRD17_ENST00000509867.2_Missense_Mutation_p.E1316D|ANKRD17_ENST00000330838.6_Missense_Mutation_p.E1178D|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1429					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCTTCAGCATCTCCTATAATG	0.368000													44	9					5.20837e-25	1.0021e-24	0.008740	1	0
SPHKAP	80309	broad.mit.edu	37	2	228882836	228882836	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:228882836C>G	ENST00000392056.3	-	7	2780	c.2734G>C	c.(2734-2736)Gct>Cct	p.A912P	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A912P	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	912						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)		GTGGATTGAGCAGGAAGCAGC	0.473000													110	16					0	0	0.003610	0	0
SETDB2	83852	broad.mit.edu	37	13	50064963	50064963	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:50064963T>A	ENST00000354234.4	+	13	2829	c.1923T>A	c.(1921-1923)agT>agA	p.S641R	SETDB2_ENST00000317257.8_Missense_Mutation_p.S653R	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	653	SET.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		AACAGCATAGTTGTTGCCCAA	0.328000													8	8					0	0	0.004482	0	0
LLGL2	3993	broad.mit.edu	37	17	73567787	73567787	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:73567787G>T	ENST00000392550.3	+	18	2333	c.2216G>T	c.(2215-2217)gGg>gTg	p.G739V	LLGL2_ENST00000167462.5_Missense_Mutation_p.G739V|LLGL2_ENST00000577200.1_Missense_Mutation_p.G739V	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	739					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGCACCAATGGGGGCACCATC	0.662000													48	14					2.29192e-23	4.32172e-23	0.003610	1	0
ZCCHC12	170261	broad.mit.edu	37	X	117959831	117959831	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:117959831C>T	ENST00000310164.2	+	4	1131	c.624C>T	c.(622-624)aaC>aaT	p.N208N		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	208					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						GGCTTCCCAACTTTCTGGAGT	0.483000													57	52					0	0	0.003610	0	0
CDH17	1015	broad.mit.edu	37	8	95158220	95158220	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:95158220G>A	ENST00000027335.3	-	15	2227	c.2103C>T	c.(2101-2103)ccC>ccT	p.P701P	CDH17_ENST00000450165.2_Silent_p.P701P|CDH17_ENST00000441892.2_Silent_p.P487P	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	701	Cadherin 7.					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)			ATGTAAAATGGGGACCCCGAA	0.448000													30	21					0	0	0.008361	0	0
RAG1	5896	broad.mit.edu	37	11	36594998	36594998	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:36594998A>T	ENST00000299440.5	+	2	256	c.144A>T	c.(142-144)gaA>gaT	p.E48D		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	48	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CTCAAAAGGAAAAGAAGGATT	0.443000									Familial Hemophagocytic Lymphohistiocytosis				21	57					0	0	0.010504	0	0
ZZEF1	23140	broad.mit.edu	37	17	3955431	3955431	+	Splice_Site	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:3955431C>A	ENST00000381638.2	-	35	5559		c.e35-1			NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1								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						TTCACCCCACCTGAGGAGAAA	0.557000													11	0					4.68919e-08	5.89997e-08	0.008291	1	0
SCP2D1	140856	broad.mit.edu	37	20	18794586	18794586	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:18794586G>C	ENST00000377428.2	+	1	217	c.127G>C	c.(127-129)Gag>Cag	p.E43Q	C20orf78_ENST00000278779.4_Intron	NM_178483.2	NP_848578.1			SCP2 sterol-binding domain containing 1																		GTCAGAATTTGAGAGCTTCCC	0.502000													12	25					0	0	0.001368	0	0
PHF3	23469	broad.mit.edu	37	6	64394326	64394326	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:64394326G>T	ENST00000262043.3	+	4	1043	c.703G>T	c.(703-705)Gat>Tat	p.D235Y	PHF3_ENST00000509330.1_Missense_Mutation_p.D235Y|PHF3_ENST00000393387.1_Missense_Mutation_p.D235Y			Q92576	PHF3_HUMAN	PHD finger protein 3	235					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGATGGATTAGATTCTAAGCA	0.363000													21	67					4.35082e-09	5.67046e-09	0.010504	1	0
HEPH	9843	broad.mit.edu	37	X	65411974	65411974	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:65411974G>A	ENST00000519389.1	+	7	1407	c.1228G>A	c.(1228-1230)Ggc>Agc	p.G410S	HEPH_ENST00000374727.3_Missense_Mutation_p.G359S|HEPH_ENST00000343002.2_Missense_Mutation_p.G356S|HEPH_ENST00000336279.5_Missense_Mutation_p.G89S|HEPH_ENST00000419594.1_Missense_Mutation_p.G359S|HEPH_ENST00000441993.2_Missense_Mutation_p.G359S			Q9BQS7	HEPH_HUMAN	hephaestin	356	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TCCTTCAGATGGCATGCAGGC	0.502000													18	8					0	0	0.007413	0	0
GDA	9615	broad.mit.edu	37	9	74838109	74838109	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:74838109G>T	ENST00000358399.3	+	7	773	c.680G>T	c.(679-681)gGc>gTc	p.G227V	GDA_ENST00000376986.1_Intron|GDA_ENST00000238018.4_Missense_Mutation_p.G227V|GDA_ENST00000545168.1_Missense_Mutation_p.G153V|GDA_ENST00000376989.3_Intron|GDA_ENST00000477618.1_3'UTR	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	227					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)		GGTGAACTGGGCAACATTGCT	0.423000													35	4					2.75727e-19	4.82693e-19	0.004878	1	0
CPNE3	8895	broad.mit.edu	37	8	87570585	87570585	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:87570585A>G	ENST00000521271.1	+	17	1723	c.1561A>G	c.(1561-1563)Aca>Gca	p.T521A	CPNE3_ENST00000198765.4_Missense_Mutation_p.T521A	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	521					lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						CTACTTCAATACATACAAACT	0.438000													16	54					0	0	0.004990	0	0
UBASH3B	84959	broad.mit.edu	37	11	122669678	122669678	+	Silent	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:122669678T>A	ENST00000284273.5	+	10	1761	c.1386T>A	c.(1384-1386)atT>atA	p.I462I		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	462	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GCAATACCATTATCGATCATG	0.438000													17	15					0	0	0.006122	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72493775	72493775	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:72493775G>T	ENST00000373208.1	+	8	1352	c.1352G>T	c.(1351-1353)cGc>cTc	p.R451L	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R448L	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	448	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R451L(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GAGCTCAGCCGCTACCTCCCG	0.637000													13	15					2.68362e-12	3.91097e-12	0.001368	1	0
KMT2C	58508	broad.mit.edu	37	7	151927028	151927028	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:151927028G>T	ENST00000355193.2	-	18	3174	c.2956C>A	c.(2956-2958)Cca>Aca	p.P986T	KMT2C_ENST00000262189.6_Missense_Mutation_p.P986T					lysine (K)-specific methyltransferase 2C																		ACACAGTATGGATGGTAACAC	0.368000													6	185					6.72482e-11	9.34882e-11	0.003163	1	0
APOA5	116519	broad.mit.edu	37	11	116661628	116661628	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:116661628C>T	ENST00000542499.1	-	4	389	c.317G>A	c.(316-318)cGc>cAc	p.R106H	APOA5_ENST00000227665.4_Missense_Mutation_p.R106H	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN	apolipoprotein A-V	106					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		GGGCTGGAGGCGAGCCTTCAC	0.647000													15	17					0	0	0.003163	0	0
PXDNL	137902	broad.mit.edu	37	8	52232462	52232462	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:52232462C>T	ENST00000356297.4	-	23	4481	c.4381G>A	c.(4381-4383)Gag>Aag	p.E1461K	RP11-401H2.1_ENST00000521294.1_RNA|PXDNL_ENST00000543296.1_3'UTR	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1461					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)				TAGCGCTTCTCTGGGGAATCA	0.473000													12	3					0	0	0.004007	0	0
MYH3	4621	broad.mit.edu	37	17	10532963	10532963	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:10532963G>A	ENST00000583535.1	-	40	5834	c.5747C>T	c.(5746-5748)tCt>tTt	p.S1916F	MYH3_ENST00000226209.7_Missense_Mutation_p.S1916F	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1916					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						GTTGACTTGAGATTCTGCGAT	0.547000													32	5					0	0	0.008361	0	0
DCC	1630	broad.mit.edu	37	18	50832076	50832076	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:50832076G>T	ENST00000442544.2	+	13	2656	c.2040G>T	c.(2038-2040)tgG>tgT	p.W680C	DCC_ENST00000581580.1_Missense_Mutation_p.W335C|DCC_ENST00000412726.1_Missense_Mutation_p.W528C	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	680	Fibronectin type-III 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACAACCTCTGGTACCTATTCA	0.408000													21	46					8.04996e-18	1.37033e-17	0.001882	1	0
DNHD1	144132	broad.mit.edu	37	11	6541202	6541202	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:6541202G>A	ENST00000254579.6	+	9	2219	c.1655G>A	c.(1654-1656)aGg>aAg	p.R552K	DNHD1_ENST00000354685.3_Missense_Mutation_p.R552K|DNHD1_ENST00000527990.2_Missense_Mutation_p.R552K	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	552					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CAGGCCCCAAGGCAGAAACCC	0.498000													37	88					0	0	0.006999	0	0
TENM1	10178	broad.mit.edu	37	X	123554363	123554363	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:123554363C>A	ENST00000422452.2	-	25	4843	c.4780G>T	c.(4780-4782)Gtg>Ttg	p.V1594L	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.V1587L	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CGAATGTGCACTGAATTGCCA	0.493000													21	42					0.000132079	0.000146892	0.008871	1	0
LINC00477	144360	broad.mit.edu	37	12	24736767	24736767	+	RNA	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:24736767C>A	ENST00000483544.1	-	0	335					NR_029451.2																						AGACGCCCTCCCAAGCCACTC	0.557000													16	8					3.52763e-06	4.16501e-06	0.004990	1	0
MYH6	4624	broad.mit.edu	37	14	23868097	23868097	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:23868097G>A	ENST00000405093.3	-	15	1801	c.1731C>T	c.(1729-1731)caC>caT	p.H577H	MYH6_ENST00000356287.3_Silent_p.H577H	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	577	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCAGGGAGAAGTGGGCTTCCT	0.542000													44	11					0	0	0.009718	0	0
OR10V1	390201	broad.mit.edu	37	11	59480878	59480878	+	Silent	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:59480878T>A	ENST00000307552.2	-	1	459	c.441A>T	c.(439-441)gtA>gtT	p.V147V		NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						CCAAGGAGCCTACCAGCAGCT	0.502000													20	20					0	0	0.008871	0	0
ELMSAN1	91748	broad.mit.edu	37	14	74206148	74206148	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:74206148C>T	ENST00000286523.5	-	2	1346	c.564G>A	c.(562-564)caG>caA	p.Q188Q	ELMSAN1_ENST00000394071.2_Silent_p.Q188Q	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		CTACCTCCAGCTGCACCTTCT	0.607000													60	16					0	0	0.003610	0	0
MYPN	84665	broad.mit.edu	37	10	69881591	69881591	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:69881591C>A	ENST00000358913.5	+	2	884	c.396C>A	c.(394-396)ccC>ccA	p.P132P	MYPN_ENST00000373675.3_Silent_p.P132P|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Silent_p.P132P	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	132	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AAGAAAGCCCCCAGGAGGCAA	0.433000													14	10					1.15088e-07	1.42032e-07	0.004007	1	0
OR6N1	128372	broad.mit.edu	37	1	158735961	158735961	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:158735961G>A	ENST00000335094.2	-	1	531	c.512C>T	c.(511-513)cCc>cTc	p.P171L		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AATGCGATTGGGGCCACAGAA	0.468000													31	42					0	0	0.007291	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965012	88965012	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:88965012G>A	ENST00000333190.4	+	4	3325	c.2716G>A	c.(2716-2718)Ggc>Agc	p.G906S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	906						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTGTTCCAGTGGCCCTTCAGA	0.458000										HNSCC(36;0.09)			41	70					0	0	0.007835	0	0
LRRC15	131578	broad.mit.edu	37	3	194080366	194080366	+	Silent	SNP	G	G	A	rs140618656	by1000genomes	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:194080366G>A	ENST00000347624.3	-	2	1492	c.1407C>T	c.(1405-1407)gtC>gtT	p.V469V	LRRC15_ENST00000439944.2_Silent_p.V475V|LRRC15_ENST00000428839.1_Silent_p.V475V	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	469	LRRCT.					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)		CAGCAACGTTGACATTGATGA	0.547000													27	1					0	0	0.005443	0	0
MYH2	4620	broad.mit.edu	37	17	10424660	10424660	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:10424660G>T	ENST00000245503.5	-	40	6147	c.5763C>A	c.(5761-5763)tcC>tcA	p.S1921S	MYH2_ENST00000397183.2_Silent_p.S1921S|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Silent_p.S688S|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1921					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGTTCACCTGGGACTCAGCAA	0.502000													86	18					2.35699e-46	5.09483e-46	0.003610	1	0
CLIC6	54102	broad.mit.edu	37	21	36088700	36088700	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr21:36088700A>G	ENST00000360731.3	+	7	2035	c.2035A>G	c.(2035-2037)Aga>Gga	p.R679G	CLIC6_ENST00000349499.2_Missense_Mutation_p.R661G			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	679	GST C-terminal.					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						TGCTTATGCTAGAGATGAGTT	0.373000													24	7					0	0	0.002780	0	0
RAB30	27314	broad.mit.edu	37	11	82693371	82693371	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:82693371C>A	ENST00000533486.1	-	6	732	c.448G>T	c.(448-450)Gag>Tag	p.E150*	RAB30_ENST00000260056.2_Nonsense_Mutation_p.E150*|RAB30_ENST00000527633.1_Nonsense_Mutation_p.E150*|RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000534141.1_Missense_Mutation_p.W148C	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	150					protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						GCTGAGGTCTCCAGATAATAC	0.453000													47	33					8.20599e-20	1.45999e-19	0.002852	1	0
LRRC19	64922	broad.mit.edu	37	9	26998035	26998035	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:26998035G>T	ENST00000380055.5	-	3	396	c.286C>A	c.(286-288)Ctc>Atc	p.L96I	IFT74_ENST00000429045.2_Intron|IFT74_ENST00000443698.1_Intron|IFT74_ENST00000433700.1_Intron|IFT74_ENST00000380062.5_Intron	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	96						integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		AGACTGGAGAGGTTACCAAAA	0.328000													29	55					1.38854e-25	2.68615e-25	0.008361	1	0
SRPX	8406	broad.mit.edu	37	X	38031232	38031232	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:38031232C>A	ENST00000378533.3	-	4	534	c.428G>T	c.(427-429)tGt>tTt	p.C143F	SRPX_ENST00000343800.6_Missense_Mutation_p.C130F|SRPX_ENST00000432886.2_Intron|SRPX_ENST00000544439.1_Missense_Mutation_p.C123F|SRPX_ENST00000538295.1_Missense_Mutation_p.C143F|TM4SF2_ENST00000465127.1_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	143	Sushi 2.				cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						ATAATACTCACACCGGGAGTT	0.502000													19	1					1.56452e-12	2.2942e-12	0.007413	1	0
CPT1A	1374	broad.mit.edu	37	11	68529082	68529082	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:68529082C>A	ENST00000265641.5	-	16	2103	c.1949G>T	c.(1948-1950)gGc>gTc	p.G650V	CPT1A_ENST00000376618.2_Missense_Mutation_p.G650V|CPT1A_ENST00000539743.1_Missense_Mutation_p.G650V|CPT1A_ENST00000540367.1_Missense_Mutation_p.G650V	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	650					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GATCCCAGAGCCGGTCATGGC	0.498000													153	88					2.39385e-68	5.27913e-68	0.003610	1	0
GPRC6A	222545	broad.mit.edu	37	6	117121858	117121858	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:117121858C>T	ENST00000310357.3	-	4	1458	c.1437G>A	c.(1435-1437)tgG>tgA	p.W479*	GPRC6A_ENST00000368549.3_Intron|GPRC6A_ENST00000530250.1_Nonsense_Mutation_p.W304*	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	479					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGATCTCCTTCCAGAGCACAA	0.383000													43	10					0	0	0.007835	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607299	84607299	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:84607299C>A	ENST00000344803.2	+	4	1961	c.1914C>A	c.(1912-1914)ggC>ggA	p.G638G		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.G638G(2)									GTTTGTGGGGCTTACCCTCTG	0.478000													23	10					1.10513e-12	1.63068e-12	0.002299	1	0
MIR520F	574464	broad.mit.edu	37	19	54185475	54185475	+	RNA	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:54185475C>T	ENST00000384824.1	+	0	63					NR_030186.1																						GCAAGTGCTTCCTTTTAGAGG	0.448000													31	35					0	0	0.007291	0	0
KCNF1	3754	broad.mit.edu	37	2	11053962	11053962	+	Silent	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:11053962C>G	ENST00000295082.1	+	1	1900	c.1410C>G	c.(1408-1410)ctC>ctG	p.L470L		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	470						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GGCTGAAGCTCTCCCACAGCG	0.677000													9	21					0	0	0.004482	0	0
LTBP1	4052	broad.mit.edu	37	2	33585793	33585793	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:33585793G>T	ENST00000404816.2	+	27	4483	c.4130G>T	c.(4129-4131)gGc>gTc	p.G1377V	LTBP1_ENST00000404525.1_Missense_Mutation_p.G998V|LTBP1_ENST00000354476.3_Missense_Mutation_p.G1378V|LTBP1_ENST00000272273.5_Missense_Mutation_p.G275V|LTBP1_ENST00000402934.1_Missense_Mutation_p.G996V|LTBP1_ENST00000418533.2_Missense_Mutation_p.G1009V|LTBP1_ENST00000390003.4_Missense_Mutation_p.G1052V|LTBP1_ENST00000407925.1_Missense_Mutation_p.G1051V			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1377	TB 3.				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)				TGTACATCAGGCGTGGGATGG	0.473000													21	39					2.54575e-18	4.38091e-18	0.010504	1	0
SV2A	9900	broad.mit.edu	37	1	149884986	149884986	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:149884986C>A	ENST00000369146.3	-	2	897	c.407G>T	c.(406-408)cGg>cTg	p.R136L	SV2A_ENST00000369145.1_Missense_Mutation_p.R136L	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	136					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TGCCTCCCCCCGGCCCCCAGG	0.652000													32	33					3.99451e-17	6.66378e-17	0.009535	1	0
GALR1	2587	broad.mit.edu	37	18	74962774	74962774	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:74962774C>A	ENST00000299727.3	+	1	270	c.270C>A	c.(268-270)ccC>ccA	p.P90P		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	90					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TCTGCATCCCCTTCCAGGCCA	0.622000													14	74					0.000422831	0.00045804	0.004007	1	0
ABCA1	19	broad.mit.edu	37	9	107574976	107574976	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:107574976C>A	ENST00000374736.3	-	28	4323	c.3929G>T	c.(3928-3930)gGg>gTg	p.G1310V		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1310					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GCCATCCATCCCACTGAGCAA	0.488000													35	56					2.75727e-19	4.82693e-19	0.004878	1	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658435	72658435	+	RNA	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:72658435C>T	ENST00000425256.1	-	0	1476					NR_002164.1																						catcgaaattctcatcgacac	0.433000													20	45					0	0	0.010504	0	0
SRSF4	6429	broad.mit.edu	37	1	29508206	29508206	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:29508206C>A	ENST00000373795.4	-	1	293	c.59G>T	c.(58-60)cGc>cTc	p.R20L	SRSF4_ENST00000546138.1_Missense_Mutation_p.R20L|SRSF4_ENST00000466448.1_5'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	20	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						CTTAAAGAAGCGCTCCACATC	0.687000													21	3					2.21704e-12	3.24099e-12	0.002780	1	0
AKT3	10000	broad.mit.edu	37	1	243727068	243727068	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:243727068G>T	ENST00000366539.1	-	10	1102	c.902C>A	c.(901-903)gCc>gAc	p.A301D	AKT3_ENST00000336199.5_Missense_Mutation_p.A301D|AKT3_ENST00000263826.5_Missense_Mutation_p.A301D|AKT3_ENST00000366540.1_Missense_Mutation_p.A301D			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	301	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			CTTCATGGTGGCTGCATCTGT	0.393000													40	8					7.63091e-17	1.25968e-16	0.007835	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79058984	79058984	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:79058984C>T	ENST00000388820.4	-	19	3479	c.3269G>A	c.(3268-3270)gGg>gAg	p.G1090E		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1090					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						GTCCCCTGTCCCCGCCAGGTC	0.627000													11	16					0	0	0.000978	0	0
C20orf195	79025	broad.mit.edu	37	20	62187822	62187822	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:62187822A>T	ENST00000370098.3	+	2	898	c.806A>T	c.(805-807)gAc>gTc	p.D269V	C20orf195_ENST00000370097.1_Missense_Mutation_p.D269V	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	269										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			TGCACCTTCGACGTCCGAAAC	0.627000													37	88					0	0	0.006999	0	0
C10orf12	26148	broad.mit.edu	37	10	98743139	98743139	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:98743139G>C	ENST00000286067.2	+	1	2099	c.1992G>C	c.(1990-1992)caG>caC	p.Q664H		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	664										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		ACCCAGAACAGGCAAAAGAAG	0.458000													24	20					0	0	0.002299	0	0
MUC16	94025	broad.mit.edu	37	19	9085554	9085554	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:9085554C>T	ENST00000397910.4	-	1	6464	c.6261G>A	c.(6259-6261)acG>acA	p.T2087T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2087	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						GAAATTCAGTCGTAGTTGAAC	0.478000													74	21					0	0	0.003610	0	0
MLIP	90523	broad.mit.edu	37	6	53989472	53989472	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:53989472G>T	ENST00000514921.1	+	3	534	c.421G>T	c.(421-423)Gct>Tct	p.A141S	MLIP_ENST00000502396.1_Missense_Mutation_p.A152S|MLIP_ENST00000509997.1_Missense_Mutation_p.A89S|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370876.2_Missense_Mutation_p.A79S|MLIP_ENST00000370877.2_Missense_Mutation_p.A89S|MLIP_ENST00000274897.5_Missense_Mutation_p.A141S|MLIP_ENST00000358276.5_Missense_Mutation_p.A135S			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	141						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GGAAGATGAGGCTGCAAGCAG	0.512000													60	46					7.50695e-29	1.50991e-28	0.003610	1	0
GLRA4	441509	broad.mit.edu	37	X	102968568	102968568	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:102968568C>A	ENST00000372617.4	-	8	1383	c.963G>T	c.(961-963)tgG>tgT	p.W321C	TMEM31_ENST00000319560.6_Missense_Mutation_p.S50Y	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	321						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ACACAGCCATCCAGATGTCGA	0.463000													25	61					7.87624e-14	1.19834e-13	0.002780	1	0
OOEP	441161	broad.mit.edu	37	6	74079001	74079001	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:74079001G>C	ENST00000370363.1	-	3	625	c.133C>G	c.(133-135)Ccc>Gcc	p.P45A	OOEP_ENST00000370359.5_Missense_Mutation_p.P100A			A6NGQ2	OOEP_HUMAN	oocyte expressed protein	100						cytoplasm				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						TGTACACGGGGCCGCCCGAAA	0.562000													12	6					0	0	0.004990	0	0
ROCK1	6093	broad.mit.edu	37	18	18539817	18539817	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:18539817T>C	ENST00000399799.1	-	29	4436	c.3496A>G	c.(3496-3498)Atg>Gtg	p.M1166V		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1166	Auto-inhibitory.|PH.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCCAATACCATAGATGGATTG	0.299000													4	6					0	0	0.009096	0	0
NECAB2	54550	broad.mit.edu	37	16	84031857	84031857	+	Silent	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:84031857G>C	ENST00000565691.1	+	8	1370	c.648G>C	c.(646-648)ctG>ctC	p.L216L	NECAB2_ENST00000305202.4_Silent_p.L299L|NECAB2_ENST00000567703.1_3'UTR			Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	299					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						CCGAGCAACTGAGCGAGTTTC	0.652000													20	22					0	0	0.010504	0	0
DYSF	8291	broad.mit.edu	37	2	71838723	71838723	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:71838723C>T	ENST00000258104.3	+	38	4411	c.4134C>T	c.(4132-4134)ccC>ccT	p.P1378P	DYSF_ENST00000394120.2_Silent_p.P1379P|DYSF_ENST00000409651.1_Silent_p.P1410P|DYSF_ENST00000429174.2_Silent_p.P1378P|DYSF_ENST00000410020.3_Silent_p.P1396P|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Silent_p.P1409P|DYSF_ENST00000410041.1_Silent_p.P1396P|DYSF_ENST00000409582.3_Silent_p.P1395P|DYSF_ENST00000409744.1_Silent_p.P1365P|DYSF_ENST00000409366.1_Silent_p.P1379P|DYSF_ENST00000409762.1_Silent_p.P1395P	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1378						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						GGAAGAACCCCAACTTTGACA	0.587000													11	15					0	0	0.001368	0	0
NPY2R	4887	broad.mit.edu	37	4	156135158	156135158	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:156135158G>T	ENST00000329476.3	+	2	556	c.67G>T	c.(67-69)Ggg>Tgg	p.G23W	NPY2R_ENST00000506608.1_Missense_Mutation_p.G23W	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	23					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GGAACAATACGGGCCACAAAC	0.488000													39	3					9.8876e-21	1.78607e-20	0.004878	1	0
LAMB4	22798	broad.mit.edu	37	7	107704242	107704242	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:107704242C>A	ENST00000388781.3	-	22	3108	c.3025G>T	c.(3025-3027)Ggt>Tgt	p.G1009C	LAMB4_ENST00000205386.4_Missense_Mutation_p.G1009C|LAMB4_ENST00000388780.3_Missense_Mutation_p.G1009C	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1009	Laminin EGF-like 10.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CCATAGTGACCTGGTTTGCAG	0.522000													36	103					1.47197e-15	2.34787e-15	0.007835	1	0
CLVS1	157807	broad.mit.edu	37	8	62289231	62289231	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:62289231C>A	ENST00000519846.1	+	4	995	c.523C>A	c.(523-525)Ctt>Att	p.L175I	CLVS1_ENST00000325897.4_Missense_Mutation_p.L175I|CLVS1_ENST00000518592.1_5'UTR			Q8IUQ0	CLVS1_HUMAN	clavesin 1	175	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AGATCCGGAGCTTCAGATAAA	0.448000													32	7					9.65021e-13	1.43138e-12	0.002096	1	0
GH1	2688	broad.mit.edu	37	17	61994796	61994796	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:61994796G>T	ENST00000323322.5	-	5	569	c.527C>A	c.(526-528)tCa>tAa	p.S176*	GH1_ENST00000342364.4_Nonsense_Mutation_p.S81*|GH1_ENST00000351388.4_Nonsense_Mutation_p.S136*|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000458650.2_Nonsense_Mutation_p.S161*	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	176					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						ATCGTTGTGTGAGTTTGTGTC	0.552000													96	46					5.62478e-27	1.10777e-26	0.003610	1	0
SLC6A18	348932	broad.mit.edu	37	5	1232936	1232936	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:1232936G>T	ENST00000324642.3	+	3	495	c.372G>T	c.(370-372)tgG>tgT	p.W124C	SLC6A18_ENST00000296821.4_Missense_Mutation_p.W124C	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	124					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)			GGGTGCTGTGGTACCTCCTCA	0.642000													23	27					6.21321e-17	1.03045e-16	0.002780	1	0
ZAN	7455	broad.mit.edu	37	7	100355877	100355877	+	RNA	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:100355877C>G	ENST00000542585.1	+	0	3510				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_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)			CGCTGCTGGCCCGGCAGTCGG	0.587000													18	13					0	0	0.006122	0	0
OCA2	4948	broad.mit.edu	37	15	28263615	28263615	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:28263615C>T	ENST00000354638.3	-	7	890	c.735G>A	c.(733-735)ggG>ggA	p.G245G	OCA2_ENST00000382996.2_Silent_p.G245G|OCA2_ENST00000353809.5_Silent_p.G245G	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	245					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCTCTTCCCTCCCAGGACGAC	0.612000									Oculocutaneous Albinism				7	9					0	0	0.001984	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202462446	202462446	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:202462446G>T	ENST00000406302.3	+	15	2298		c.e15+1		PPP1R12B_ENST00000336894.4_Splice_Site|PPP1R12B_ENST00000290419.5_Splice_Site|PPP1R12B_ENST00000367270.4_Splice_Site|PPP1R12B_ENST00000391959.3_Splice_Site	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GGATGAAGAGGTGAGCTCATT	0.532000													17	1					5.03518e-11	7.04826e-11	0.007413	1	0
ACAN	176	broad.mit.edu	37	15	89398775	89398775	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:89398775C>A	ENST00000439576.2	+	12	3333	c.2959C>A	c.(2959-2961)Cct>Act	p.P987T	ACAN_ENST00000561243.1_Missense_Mutation_p.P987T|ACAN_ENST00000559004.1_Missense_Mutation_p.P987T|ACAN_ENST00000352105.7_Missense_Mutation_p.P987T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	987					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)			GACCACTGCCCCTGGAGTAGA	0.542000													52	88					7.05995e-25	1.35651e-24	0.003610	1	0
SUMO2	6613	broad.mit.edu	37	17	73177235	73177235	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:73177235C>A	ENST00000420826.2	-	2	218	c.70G>T	c.(70-72)Ggg>Tgg	p.G24W	SUMO2_ENST00000314523.7_Missense_Mutation_p.G24W|SUMO2_ENST00000578238.1_5'UTR	NM_006937.3	NP_008868.3	P61956	SUMO2_HUMAN	small ubiquitin-like modifier 2	24	Ubiquitin-like.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation	nucleus	ubiquitin protein ligase binding			NS(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					CCATCCTGCCCCGCCACCTTC	0.383000													50	26					4.88482e-21	8.85765e-21	0.003610	1	0
SPTA1	6708	broad.mit.edu	37	1	158651381	158651381	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:158651381C>T	ENST00000368148.3	-	4	647	c.467G>A	c.(466-468)cGg>cAg	p.R156Q	SPTA1_ENST00000368147.3_Missense_Mutation_p.R156Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	156					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTCAGGGCCCGCAGCAACTG	0.527000													65	108					0	0	0.003610	0	0
NOTCH1	4851	broad.mit.edu	37	9	139401182	139401182	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:139401182C>A	ENST00000277541.6	-	23	3962	c.3887G>T	c.(3886-3888)cGt>cTt	p.R1296L		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1296	EGF-like 33.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTGACCAGCACGGCACTCGCA	0.687000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			4	2					0.00909568	0.00952561	0.009096	1	0
GPR82	27197	broad.mit.edu	37	X	41586807	41586807	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:41586807C>A	ENST00000302548.4	+	3	768	c.528C>A	c.(526-528)gtC>gtA	p.V176V	CASK_ENST00000378166.4_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378163.1_Intron	NM_080817.4	NP_543007.1	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	176						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	10						ACTACTCAGTCATAGAGGCTA	0.428000													29	7					1.17739e-12	1.73549e-12	0.005443	1	0
CSMD3	114788	broad.mit.edu	37	8	113418917	113418917	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:113418917G>T	ENST00000297405.5	-	35	5889	c.5645C>A	c.(5644-5646)cCt>cAt	p.P1882H	CSMD3_ENST00000455883.2_Missense_Mutation_p.P1778H|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1812H|CSMD3_ENST00000343508.3_Missense_Mutation_p.P1842H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1882	Sushi 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTTGGTTCAGGCACAGAACT	0.338000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	31					5.18039e-06	6.07593e-06	0.003080	1	0
OCA2	4948	broad.mit.edu	37	15	28096607	28096607	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:28096607C>A	ENST00000354638.3	-	22	2414	c.2259G>T	c.(2257-2259)ctG>ctT	p.L753L	OCA2_ENST00000353809.5_Silent_p.L729L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	753					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGCTCAGGTTCAGGAGCACGG	0.577000									Oculocutaneous Albinism				3	11					0.004672	0.00493658	0.004672	1	0
KIAA2022	340533	broad.mit.edu	37	X	73963343	73963343	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:73963343G>T	ENST00000373468.1	-	3	1700	c.1049C>A	c.(1048-1050)tCt>tAt	p.S350Y	KIAA2022_ENST00000055682.5_Missense_Mutation_p.S350Y			Q5QGS0	K2022_HUMAN	KIAA2022	350					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CCCACTCTTAGACTCTCGCTT	0.468000													57	40					2.17126e-26	4.22918e-26	0.003610	1	0
CRIM1	51232	broad.mit.edu	37	2	36691775	36691775	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:36691775G>T	ENST00000280527.2	+	5	1335	c.968G>T	c.(967-969)tGt>tTt	p.C323F		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	323					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GGAAAGTGCTGTGATGTCTTT	0.517000													54	70					1.54043e-34	3.22649e-34	0.003610	1	0
FIBIN	387758	broad.mit.edu	37	11	27016337	27016337	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:27016337C>A	ENST00000318627.2	+	1	710	c.264C>A	c.(262-264)ggC>ggA	p.G88G		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	88						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						CCGTGCTGGGCCGCCAGGTGG	0.657000													14	17					4.7546e-09	6.17402e-09	0.004007	1	0
RBFOX1	54715	broad.mit.edu	37	16	7657325	7657325	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:7657325C>A	ENST00000340209.4	+	7	973	c.676C>A	c.(676-678)Ccc>Acc	p.P226T	RBFOX1_ENST00000422070.4_Missense_Mutation_p.P264T|RBFOX1_ENST00000436368.2_Missense_Mutation_p.P241T|RBFOX1_ENST00000547372.1_Missense_Mutation_p.P264T|RBFOX1_ENST00000547338.1_Missense_Mutation_p.P221T|RBFOX1_ENST00000535565.2_Missense_Mutation_p.P178T|RBFOX1_ENST00000550418.1_Missense_Mutation_p.P221T|RBFOX1_ENST00000552089.1_Missense_Mutation_p.P238T|RBFOX1_ENST00000311745.5_Missense_Mutation_p.P241T|RBFOX1_ENST00000553186.1_Missense_Mutation_p.P221T|RBFOX1_ENST00000355637.4_Missense_Mutation_p.P241T			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	221					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AGTCTACAGTCCCGAATTCTA	0.348000													22	32					4.72057e-08	5.92894e-08	0.003954	1	0
PPAPDC1A	196051	broad.mit.edu	37	10	122280544	122280544	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:122280544T>A	ENST00000398250.1	+	5	734	c.382T>A	c.(382-384)Tgc>Agc	p.C128S	PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.C118S|PPAPDC1A_ENST00000439221.1_Intron|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.C128S|PPAPDC1A_ENST00000398248.1_Intron	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	128					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)		GGAAATGCATTGCACAGGTGA	0.493000													19	20					0	0	0.008871	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092786	151092786	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:151092786C>A	ENST00000370335.1	+	3	917	c.650C>A	c.(649-651)gCc>gAc	p.A217D	MAGEA4_ENST00000276344.2_Missense_Mutation_p.A217D|MAGEA4_ENST00000360243.2_Missense_Mutation_p.A217D|MAGEA4_ENST00000370340.3_Missense_Mutation_p.A217D|MAGEA4_ENST00000370337.4_Missense_Mutation_p.A217D|MAGEA4_ENST00000393920.1_Missense_Mutation_p.A217D|MAGEA4_ENST00000393921.1_Missense_Mutation_p.A217D			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	217	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGCGACAGCGCCTCTGAGGAG	0.547000													150	80					1.30846e-95	2.90814e-95	0.003610	1	0
GRIK3	2899	broad.mit.edu	37	1	37346444	37346444	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:37346444T>C	ENST00000373091.3	-	3	357	c.341A>G	c.(340-342)cAg>cGg	p.Q114R	GRIK3_ENST00000373093.4_Missense_Mutation_p.Q114R	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	114					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)	GCAGGAGCCCTGTGATGGGCC	0.637000													7	5					0	0	0.001984	0	0
GPR148	344561	broad.mit.edu	37	2	131487177	131487177	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:131487177C>A	ENST00000309926.4	+	1	535	c.453C>A	c.(451-453)atC>atA	p.I151I		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	151						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					TGGCAGTCATCCATCCACTGC	0.592000													37	5					1.60099e-16	2.61543e-16	0.004878	1	0
OR5K4	403278	broad.mit.edu	37	3	98072932	98072932	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:98072932C>A	ENST00000354924.2	+	1	235	c.235C>A	c.(235-237)Ccc>Acc	p.P79T	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TGCTGTTACCCCCAAGATGTT	0.418000													298	32					5.49051e-137	1.22607e-136	0.003610	1	0
ILF3	3609	broad.mit.edu	37	19	10794217	10794217	+	Splice_Site	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:10794217A>T	ENST00000449870.1	+	15	2179	c.1863_splice	c.e15+1	p.K621_splice	ILF3_ENST00000590261.1_Splice_Site_p.K617_splice|ILF3_ENST00000318511.3_Splice_Site_p.K617_splice|ILF3_ENST00000592763.1_Splice_Site_p.K621_splice|ILF3_ENST00000589998.1_Splice_Site_p.K617_splice|ILF3_ENST00000588657.1_Splice_Site_p.K621_splice|ILF3_ENST00000250241.8_Splice_Site_p.K617_splice|ILF3_ENST00000420083.1_Splice_Site_p.K617_splice|ILF3_ENST00000407004.3_Splice_Site_p.K621_splice	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	617	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TTTGCTGCTAAGGTGAGCAGT	0.537000													21	7					0	0	0.010504	0	0
CIT	11113	broad.mit.edu	37	12	120156602	120156602	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:120156602T>C	ENST00000392521.2	-	31	3960	c.3905A>G	c.(3904-3906)gAg>gGg	p.E1302G	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.E1260G	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1260	Interaction with Rho/Rac.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CAGCTTCAGCTCATTGTACTG	0.547000													3	54					0	0	0.004672	0	0
PAX2	5076	broad.mit.edu	37	10	102566266	102566266	+	Silent	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:102566266C>G	ENST00000370296.2	+	7	1315	c.765C>G	c.(763-765)acC>acG	p.T255T	PAX2_ENST00000556085.1_Silent_p.T231T|PAX2_ENST00000428433.1_Silent_p.T255T|PAX2_ENST00000553492.1_3'UTR|PAX2_ENST00000355243.3_Silent_p.T232T|PAX2_ENST00000361791.3_Silent_p.T232T			Q02962	PAX2_HUMAN	paired box 2	255					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GAGCTGACACCTTCACCCAGC	0.542000													42	85					0	0	0.009718	0	0
IL16	3603	broad.mit.edu	37	15	81598783	81598783	+	Silent	SNP	G	G	A	rs145510224		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:81598783G>A	ENST00000394660.2	+	18	4059	c.3699G>A	c.(3697-3699)acG>acA	p.T1233T	RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000302987.4_Silent_p.T1234T|IL16_ENST00000394652.2_Silent_p.T533T	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	1234					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CAGTCTGCACGGTGACACTGG	0.572000													54	72					0	0	0.003610	0	0
HYAL4	23553	broad.mit.edu	37	7	123516864	123516864	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:123516864C>A	ENST00000223026.4	+	5	1739	c.1101C>A	c.(1099-1101)gcC>gcA	p.A367A	HYAL4_ENST00000476325.1_Silent_p.A367A	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	367					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						GCTACATAGCCAATGTGACCA	0.468000													16	48					1.3612e-06	1.62748e-06	0.003163	1	0
GPR158	57512	broad.mit.edu	37	10	25887098	25887098	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:25887098C>T	ENST00000376351.3	+	11	2902	c.2543C>T	c.(2542-2544)aCa>aTa	p.T848I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	848						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAAAATTCCACACTGGAATCC	0.493000													54	45					0	0	0.003610	0	0
ZNF479	90827	broad.mit.edu	37	7	57188163	57188163	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:57188163G>T	ENST00000331162.4	-	5	1229	c.959C>A	c.(958-960)aCt>aAt	p.T320N		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTTCTCTCCAGTATGAATTCT	0.438000													15	17					5.3912e-06	6.29714e-06	0.006122	1	0
LAIR1	3903	broad.mit.edu	37	19	54875929	54875929	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:54875929G>T	ENST00000434277.2	-	2	233	c.43C>A	c.(43-45)Ctg>Atg	p.L15M	LAIR1_ENST00000391743.3_Intron|LAIR1_ENST00000474878.1_Missense_Mutation_p.L15M|LAIR1_ENST00000348231.4_Missense_Mutation_p.L15M|LAIR1_ENST00000391742.2_Missense_Mutation_p.L15M|LAIR1_ENST00000313038.6_Missense_Mutation_p.L9M|LAIR1_ENST00000463489.1_5'UTR	NM_002287.3	NP_002278.1	Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	15						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		GTCTGGGCCAGGCAGAGCACT	0.612000													35	45					1.04594e-18	1.81758e-18	0.006230	1	0
PLB1	151056	broad.mit.edu	37	2	28855821	28855821	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:28855821C>A	ENST00000422425.2	+	55	4024	c.3980C>A	c.(3979-3981)aCt>aAt	p.T1327N	PLB1_ENST00000541605.1_Missense_Mutation_p.T303N|PLB1_ENST00000327757.5_Missense_Mutation_p.T1338N	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1338	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AGAGGGGACACTGACCTCACC	0.587000													12	25					6.31663e-08	7.92653e-08	0.003163	1	0
SLFN5	162394	broad.mit.edu	37	17	33592371	33592371	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:33592371A>T	ENST00000299977.4	+	5	2288	c.2140A>T	c.(2140-2142)Aat>Tat	p.N714Y	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	714					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AGTGGTCCGCAATGCAGGTCC	0.507000													29	86					0	0	0.008361	0	0
TRABD2A	129293	broad.mit.edu	37	2	85049165	85049165	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:85049165C>T	ENST00000335459.5	-	6	1452	c.1247G>A	c.(1246-1248)cGg>cAg	p.R416Q	TRABD2A_ENST00000479944.1_5'UTR|TRABD2A_ENST00000409520.2_Missense_Mutation_p.R465Q	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		GCGAGGGAGCCGCAGTTCAGT	0.592000													4	5					0	0	0.009096	0	0
GPR174	84636	broad.mit.edu	37	X	78427217	78427217	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:78427217T>A	ENST00000276077.1	+	1	749	c.713T>A	c.(712-714)gTa>gAa	p.V238E		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	238						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TGTGCAGGGGTATTCCTAATT	0.408000										HNSCC(63;0.18)			32	63					0	0	0.009535	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125530389	125530389	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:125530389C>A	ENST00000431078.1	+	17	2908	c.2544C>A	c.(2542-2544)atC>atA	p.I848I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	848	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)		CTTCAGAGATCACCTTTGCCA	0.488000													52	5					3.39706e-21	6.17567e-21	0.003610	1	0
DHX37	57647	broad.mit.edu	37	12	125449024	125449024	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:125449024G>T	ENST00000308736.2	-	15	2059	c.1961C>A	c.(1960-1962)tCc>tAc	p.S654Y	DHX37_ENST00000544745.1_Missense_Mutation_p.S441Y	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	654	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GACACGGAAGGAGGATACGCC	0.622000													25	18					9.57634e-11	1.3261e-10	0.003330	1	0
CDH6	1004	broad.mit.edu	37	5	31323360	31323360	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:31323360G>A	ENST00000265071.2	+	12	2583	c.2318G>A	c.(2317-2319)cGa>cAa	p.R773Q		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	773					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						TGGGGACCTCGATTCAAAAAG	0.463000													12	28					0	0	0.002450	0	0
DNAJC10	54431	broad.mit.edu	37	2	183595774	183595774	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:183595774A>G	ENST00000264065.6	+	9	1160	c.745A>G	c.(745-747)Ata>Gta	p.I249V	DNAJC10_ENST00000537515.1_Missense_Mutation_p.I249V	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	249					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGTCAACTCCATACAAACTGC	0.318000													22	9					0	0	0.003330	0	0
AIFM1	9131	broad.mit.edu	37	X	129281788	129281788	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:129281788C>A	ENST00000287295.3	-	4	643	c.413G>T	c.(412-414)gGt>gTt	p.G138V	AIFM1_ENST00000535724.1_Missense_Mutation_p.G51V|AIFM1_ENST00000319908.3_Missense_Mutation_p.G134V|AIFM1_ENST00000346424.2_Intron	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	138	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						TGTGCCTCCACCAATTAGCAG	0.517000													100	73					1.90545e-35	4.0088e-35	0.003610	1	0
EYA4	2070	broad.mit.edu	37	6	133844274	133844274	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:133844274G>C	ENST00000367895.5	+	18	2161	c.1697G>C	c.(1696-1698)gGt>gCt	p.G566A	EYA4_ENST00000452339.2_Missense_Mutation_p.G512A|EYA4_ENST00000355167.3_Missense_Mutation_p.G566A|EYA4_ENST00000430974.2_Missense_Mutation_p.G518A|EYA4_ENST00000531901.1_Missense_Mutation_p.G572A|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000431403.2_Missense_Mutation_p.G566A|EYA4_ENST00000525849.1_Missense_Mutation_p.G543A|EYA4_ENST00000355286.6_Missense_Mutation_p.G543A	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	566					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AGTTTAGGAGGTGCTTTCCCC	0.383000													42	7					0	0	0.006999	0	0
OCA2	4948	broad.mit.edu	37	15	28211927	28211927	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:28211927C>A	ENST00000354638.3	-	15	1700	c.1545G>T	c.(1543-1545)ggG>ggT	p.G515G	OCA2_ENST00000382996.2_Silent_p.G515G|OCA2_ENST00000353809.5_Silent_p.G491G	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	515					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CAAGGCAAATCCCAATGAACA	0.488000									Oculocutaneous Albinism				8	10					5.4927e-09	7.11293e-09	0.004482	1	0
ENGASE	64772	broad.mit.edu	37	17	77079562	77079562	+	Splice_Site	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:77079562A>T	ENST00000579016.1	+	9	1142		c.e9-1		ENGASE_ENST00000584568.1_Splice_Site	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase							cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TGTCTCTGGCAGGTTCTGGGG	0.612000													8	25					0	0	0.003080	0	0
LDOC1	23641	broad.mit.edu	37	X	140271183	140271183	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:140271183C>A	ENST00000370526.2	-	1	127	c.24G>T	c.(22-24)ctG>ctT	p.L8L	LDOC1_ENST00000460721.1_5'UTR	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	8					negative regulation of cell proliferation	nucleus	protein binding			endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					GCGCGTGCAGCAGCAGCACCA	0.667000													14	18					4.36969e-10	5.85654e-10	0.001855	1	0
F2R	2149	broad.mit.edu	37	5	76028811	76028811	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:76028811G>A	ENST00000319211.4	+	2	1026	c.761G>A	c.(760-762)tGt>tAt	p.C254Y		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	254					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	ATCACTACCTGTCATGATGTG	0.527000													31	10					0	0	0.008361	0	0
MUC16	94025	broad.mit.edu	37	19	9089641	9089641	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:9089641G>A	ENST00000397910.4	-	1	2377	c.2174C>T	c.(2173-2175)cCt>cTt	p.P725L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	725	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						TGACAACAGAGGAATGCTGGT	0.493000													35	7					0	0	0.003755	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128878	68128878	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:68128878G>T	ENST00000585558.1	+	4	1143	c.755G>T	c.(754-756)aGa>aTa	p.R252I	KCNJ16_ENST00000392670.1_Missense_Mutation_p.R217I|KCNJ16_ENST00000586462.1_Missense_Mutation_p.R256I|KCNJ16_ENST00000589377.1_Missense_Mutation_p.R217I|KCNJ16_ENST00000283936.1_Missense_Mutation_p.R217I|KCNJ16_ENST00000392671.1_Missense_Mutation_p.R217I			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	217					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					GGAACAGTTAGAGCCCAACTT	0.473000													59	19					6.3091e-27	1.24082e-26	0.003610	1	0
NDUFAF5	79133	broad.mit.edu	37	20	13775574	13775574	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:13775574G>T	ENST00000378106.5	+	5	585	c.466G>T	c.(466-468)Gtt>Ttt	p.V156F	NDUFAF5_ENST00000463598.1_Intron|NDUFAF5_ENST00000475968.1_Intron	NM_024120.4	NP_077025.2	Q5TEU4	CT007_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 5	156					mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity										TGACCTGGTGGTTAGCAGTTT	0.368000													5	10					0.000602214	0.000646435	0.000602	1	0
MLNR	2862	broad.mit.edu	37	13	49796399	49796399	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:49796399C>A	ENST00000218721.1	+	2	1125	c.1125C>A	c.(1123-1125)tcC>tcA	p.S375S	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	375					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CAAGGAAGTCCAGGCCGAGAG	0.542000													39	26					6.97489e-18	1.19018e-17	0.004878	1	0
PLCB1	23236	broad.mit.edu	37	20	8720994	8720994	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:8720994A>T	ENST00000378641.3	+	22	2787	c.2312A>T	c.(2311-2313)tAt>tTt	p.Y771F	PLCB1_ENST00000338037.6_Missense_Mutation_p.Y771F|PLCB1_ENST00000378637.2_Missense_Mutation_p.Y771F|PLCB1_ENST00000494924.1_3'UTR	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	771					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						CTTCCAGGCTATCACTATATC	0.398000													10	27					0	0	0.001368	0	0
OR4A5	81318	broad.mit.edu	37	11	51411794	51411794	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:51411794C>A	ENST00000319760.6	-	1	654	c.602G>T	c.(601-603)gGa>gTa	p.G201V		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ACAGATTGCTCCACTATTGAC	0.428000													11	22					3.86212e-05	4.34642e-05	0.008291	1	0
RAG1	5896	broad.mit.edu	37	11	36595593	36595593	+	Missense_Mutation	SNP	C	C	T	rs147203889		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:36595593C>T	ENST00000299440.5	+	2	851	c.739C>T	c.(739-741)Cgt>Tgt	p.R247C		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	247	Interaction with importin alpha-1.		R -> H (in dbSNP:rs4151029).		histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AAGACAAGCCCGTCAGCACAA	0.498000									Familial Hemophagocytic Lymphohistiocytosis				18	39					0	0	0.006122	0	0
MYH13	8735	broad.mit.edu	37	17	10213109	10213109	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:10213109C>A	ENST00000418404.3	-	33	4858	c.4695G>T	c.(4693-4695)gtG>gtT	p.V1565V	MYH13_ENST00000252172.4_Silent_p.V1565V|MYH13_ENST00000570743.1_Silent_p.V1565V			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1565					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						GCTCTAGCTGCACGCGCAAGA	0.512000													5	0					0.000602214	0.000646435	0.000602	1	0
VENTX	27287	broad.mit.edu	37	10	135053621	135053621	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:135053621G>T	ENST00000325980.9	+	3	1099	c.588G>T	c.(586-588)atG>atT	p.M196I		NM_014468.2	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	196					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		AGGCTCTGATGCTGCCCCCTG	0.672000													10	3					0.000442599	0.000477267	0.006214	1	0
GCOM1	145781	broad.mit.edu	37	15	57910261	57910261	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:57910261A>G	ENST00000574161.1	+	3	312	c.193A>G	c.(193-195)Agg>Ggg	p.R65G	POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000396180.1_Missense_Mutation_p.R65G|GCOM1_ENST00000587652.1_Missense_Mutation_p.R65G|GCOM1_ENST00000380568.3_Missense_Mutation_p.R65G|GCOM1_ENST00000572390.1_Missense_Mutation_p.R65G|MYZAP_ENST00000380565.4_Missense_Mutation_p.R65G|MYZAP_ENST00000267853.5_Missense_Mutation_p.R65G|GCOM1_ENST00000380561.2_Missense_Mutation_p.R65G|GCOM1_ENST00000380569.2_Missense_Mutation_p.R65G|GCOM1_ENST00000380560.2_Missense_Mutation_p.R65G	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		65					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						AGAACCTACCAGGAAACTTCC	0.428000													12	24					0	0	0.001855	0	0
CD6	923	broad.mit.edu	37	11	60777114	60777114	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:60777114G>A	ENST00000313421.7	+	5	1038	c.852G>A	c.(850-852)ggG>ggA	p.G284G	CD6_ENST00000346437.4_Silent_p.G284G|CD6_ENST00000452451.2_Silent_p.G284G|CD6_ENST00000344028.5_Silent_p.G284G|CD6_ENST00000352009.5_Silent_p.G284G|CD6_ENST00000545105.1_Intron	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	284	SRCR 3.				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						ACTTCCGAGGGGTCTGGAACA	0.652000													9	31					0	0	0.006214	0	0
SERPINI1	5274	broad.mit.edu	37	3	167507133	167507133	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:167507133C>T	ENST00000295777.5	+	2	648	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	SERPINI1_ENST00000446050.2_Missense_Mutation_p.R73C	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	73					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						GAAAGAAATCCGCCACTCAAT	0.398000													13	26					0	0	0.001855	0	0
MAP1A	4130	broad.mit.edu	37	15	43815578	43815578	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:43815578A>G	ENST00000382031.1	+	5	2652	c.2621A>G	c.(2620-2622)gAc>gGc	p.D874G	MAP1A_ENST00000399453.1_Missense_Mutation_p.D636G|MAP1A_ENST00000300231.5_Missense_Mutation_p.D636G			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	636						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGGCTCCCAGACAGAACAGAA	0.498000													2	7					0	0	0.004672	0	0
STK26	51765	broad.mit.edu	37	X	131202555	131202555	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:131202555G>A	ENST00000394334.2	+	6	808	c.555G>A	c.(553-555)tgG>tgA	p.W185*	MST4_ENST00000481105.1_Nonsense_Mutation_p.W207*|MST4_ENST00000496850.1_Nonsense_Mutation_p.W185*|MST4_ENST00000354719.6_Nonsense_Mutation_p.W185*|MST4_ENST00000394335.2_Nonsense_Mutation_p.W108*	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN		185	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CTCCATTTTGGATGGCTCCTG	0.368000													35	70					0	0	0.006999	0	0
MIIP	60672	broad.mit.edu	37	1	12091341	12091341	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:12091341G>T	ENST00000235332.4	+	9	1130	c.961G>T	c.(961-963)Gac>Tac	p.D321Y	MIIP_ENST00000436478.2_Silent_p.G288G|MIIP_ENST00000466860.1_3'UTR	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	321										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GCTGGGCTGGGACATTTTTCC	0.607000													20	5					8.00594e-06	9.27486e-06	0.007413	1	0
ANO7	50636	broad.mit.edu	37	2	242135200	242135200	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:242135200C>A	ENST00000274979.8	+	4	514	c.411C>A	c.(409-411)caC>caA	p.H137Q	ANO7_ENST00000402530.3_Missense_Mutation_p.H136Q|ANO7_ENST00000402430.3_Missense_Mutation_p.H136Q	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	137						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CAGACATGCACAGGACCTGGC	0.612000													28	7					7.26314e-15	1.12559e-14	0.007291	1	0
RANBP3L	202151	broad.mit.edu	37	5	36257164	36257164	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:36257164G>T	ENST00000296604.3	-	10	1267	c.782C>A	c.(781-783)tCt>tAt	p.S261Y	RANBP3L_ENST00000502994.1_Missense_Mutation_p.S286Y|RANBP3L_ENST00000515759.1_Missense_Mutation_p.S261Y	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	261					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			ATTTTTAATAGAGTCTGTTCC	0.373000													14	21					0.000308642	0.000335367	0.003163	1	0
CASP9	842	broad.mit.edu	37	1	15844622	15844622	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:15844622C>A	ENST00000546424.1	-	2	645	c.401G>T	c.(400-402)gGa>gTa	p.G134V	CASP9_ENST00000348549.5_Missense_Mutation_p.G134V|CASP9_ENST00000375890.4_Missense_Mutation_p.G51V|CASP9_ENST00000333868.5_Missense_Mutation_p.G134V			P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	134					activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding	p.G134E(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		ACCAAATCCTCCAGAACCAAT	0.522000													29	12					1.30897e-18	2.26633e-18	0.009535	1	0
PGM5	5239	broad.mit.edu	37	9	71144537	71144537	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:71144537A>G	ENST00000396396.1	+	11	1898	c.1669A>G	c.(1669-1671)Aga>Gga	p.R557G		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	557					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GATTCATGAGAGAACTGGCCG	0.502000													6	5					0	0	0.001168	0	0
ZNF302	55900	broad.mit.edu	37	19	35175591	35175591	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:35175591A>T	ENST00000505242.1	+	5	1143	c.649A>T	c.(649-651)Agt>Tgt	p.S217C	ZNF302_ENST00000457781.2_Missense_Mutation_p.S217C|ZNF302_ENST00000446502.2_Missense_Mutation_p.S261C|ZNF302_ENST00000423823.2_Missense_Mutation_p.S217C|ZNF302_ENST00000505365.2_3'UTR			Q9NR11	ZN302_HUMAN	zinc finger protein 302	296					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)			GTCAATCCTCAGTCGCCACTG	0.443000													65	77					0	0	0.003610	0	0
MYO7B	4648	broad.mit.edu	37	2	128341835	128341835	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:128341835C>T	ENST00000389524.4	+	13	1535	c.1482C>T	c.(1480-1482)ccC>ccT	p.P494P	MYO7B_ENST00000409816.2_Silent_p.P494P|MYO7B_ENST00000428314.1_Silent_p.P494P			Q6PIF6	MYO7B_HUMAN	myosin VIIB	494	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACAATCGGCCCACCCTGGACC	0.587000													35	5					0	0	0.006999	0	0
DLX5	1749	broad.mit.edu	37	7	96651669	96651669	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:96651669G>T	ENST00000222598.4	-	2	841	c.368C>A	c.(367-369)aCc>aAc	p.T123N	DLX5_ENST00000493764.1_Intron|DLX5_ENST00000486603.2_Missense_Mutation_p.T123N	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	123					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CTCGGGCTCGGTCACTTCTTT	0.443000													21	52					2.32416e-17	3.90944e-17	0.002299	1	0
OR2M2	391194	broad.mit.edu	37	1	248343692	248343692	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:248343692C>T	ENST00000359682.2	+	1	405	c.405C>T	c.(403-405)ctC>ctT	p.L135L		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATACCAATCTCATGAATCCTA	0.403000													113	36					0	0	0.003610	0	0
HHIPL2	79802	broad.mit.edu	37	1	222700385	222700385	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:222700385C>A	ENST00000343410.6	-	7	1789	c.1731G>T	c.(1729-1731)ctG>ctT	p.L577L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	577					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCAGGAAATACAGCTCCCCTA	0.443000													9	2					0.000442599	0.000477267	0.006214	1	0
KEAP1	9817	broad.mit.edu	37	19	10610411	10610411	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:10610411A>G	ENST00000171111.5	-	2	846	c.299T>C	c.(298-300)cTg>cCg	p.L100P	KEAP1_ENST00000393623.2_Missense_Mutation_p.L100P	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	100	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GGATGAGGCCAGCACCACCTT	0.612000													22	2					0	0	0.002299	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092997	30092997	+	RNA	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:30092997A>T	ENST00000567636.1	+	0	1372					NR_003558.1																						CTTCTCAGGTACAAGCACCTC	0.547000													4	10					0	0	0.009096	0	0
MGAM	8972	broad.mit.edu	37	7	141719006	141719006	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:141719006G>A	ENST00000475668.2	+	4	389	c.335G>A	c.(334-336)tGt>tAt	p.C112Y	MGAM_ENST00000549489.2_Missense_Mutation_p.C112Y			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	112	P-type 1.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAGGCCACATGTGACCAACGT	0.438000													100	13					0	0	0.003610	0	0
CDH10	1008	broad.mit.edu	37	5	24535880	24535880	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:24535880C>A	ENST00000264463.4	-	4	1085	c.578G>T	c.(577-579)gGg>gTg	p.G193V		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	193	Cadherin 2.				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)		GGCGCTGTTCCCATATGAAGG	0.463000										HNSCC(23;0.051)			19	21					6.94344e-10	9.24488e-10	0.006122	1	0
SHPK	23729	broad.mit.edu	37	17	3514000	3514000	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:3514000C>A	ENST00000225519.3	-	7	1393	c.1291G>T	c.(1291-1293)Ggg>Tgg	p.G431W		NM_013276.2	NP_037408.2	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	431					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		AGCGCACTCCCACTGCCCATC	0.617000													81	13					9.04243e-43	1.93981e-42	0.003610	1	0
PXDNL	137902	broad.mit.edu	37	8	52287226	52287226	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:52287226C>G	ENST00000356297.4	-	18	3723	c.3623G>C	c.(3622-3624)gGt>gCt	p.G1208A	PXDNL_ENST00000543296.1_Missense_Mutation_p.G1208A	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1208					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)				CACTCTTGTACCAGGAATCAG	0.478000													29	10					0	0	0.008361	0	0
CELSR3	1951	broad.mit.edu	37	3	48689956	48689956	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:48689956C>A	ENST00000544264.1	-	11	5945	c.5665G>T	c.(5665-5667)Ggc>Tgc	p.G1889C	CELSR3_ENST00000164024.4_Missense_Mutation_p.G1889C			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1889	Laminin G-like 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACCTTCAGGCCCTGCAGCTCA	0.647000													10	7					0.000442599	0.000477267	0.006214	1	0
NFYA	4800	broad.mit.edu	37	6	41058044	41058044	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:41058044G>T	ENST00000341376.6	+	6	744	c.543G>T	c.(541-543)caG>caT	p.Q181H	NFYA_ENST00000353205.5_Missense_Mutation_p.Q152H|OARD1_ENST00000480585.1_Intron	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	181					transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCATTCTCCAGCAAGGTAAGT	0.473000													23	4					1.64293e-13	2.46788e-13	0.003330	1	0
ZNF630	57232	broad.mit.edu	37	X	47920238	47920238	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:47920238C>G	ENST00000442455.3	-	3	403	c.60G>C	c.(58-60)agG>agC	p.R20S	ZNF630_ENST00000409324.3_Missense_Mutation_p.R34S|ZNF630_ENST00000276054.4_5'UTR|ZNF630-AS1_ENST00000436124.1_RNA	NM_001190255.1	NP_001177184.1	Q2M218	ZN630_HUMAN	zinc finger protein 630	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						GCATCACATCCCTATGCAGGG	0.493000													11	3					0	0	0.008291	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40673079	40673079	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:40673079G>T	ENST00000343619.4	+	22	2578	c.2455G>T	c.(2455-2457)Ggt>Tgt	p.G819C	ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.G820C|ATP6V0A1_ENST00000587797.1_3'UTR|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.G813C|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.G776C|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.G819C|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.G465C|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.G770C	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	819					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CAGCGGGACCGGTTTCAAGTT	0.483000													69	168					9.07738e-34	1.88735e-33	0.003610	1	0
BCAT1	586	broad.mit.edu	37	12	25047341	25047341	+	Silent	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:25047341A>G	ENST00000261192.7	-	3	673	c.147T>C	c.(145-147)ttT>ttC	p.F49F	BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539282.1_Silent_p.F61F|BCAT1_ENST00000538118.1_Silent_p.F48F|BCAT1_ENST00000539780.1_Silent_p.F49F|BCAT1_ENST00000342945.5_Silent_p.F25F	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	49					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	ACACAGTTCCAAAAACCAGAT	0.433000													6	3					0	0	0.001168	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:90161926T>C	ENST00000567960.1	+	0	662				TUBB8P7_ENST00000564451.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													3	20					0	0	0.004672	0	0
GH2	2689	broad.mit.edu	37	17	61957914	61957914	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:61957914C>A	ENST00000332800.7	-	4	807	c.674G>T	c.(673-675)aGc>aTc	p.S225I	GH2_ENST00000449787.2_Intron|GH2_ENST00000456543.2_Intron|GH2_ENST00000423893.2_Intron	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	0						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						AGGCCAAGCGCTTGGGCACTG	0.532000													87	37					3.76144e-29	7.57631e-29	0.003610	1	0
LPIN3	64900	broad.mit.edu	37	20	39974575	39974575	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:39974575G>T	ENST00000373257.3	+	2	223	c.132G>T	c.(130-132)cgG>cgT	p.R44R		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	44	N-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GCTCGTTCCGGTGCTCACCCT	0.642000													53	41					5.13769e-22	9.42463e-22	0.003610	1	0
CSMD3	114788	broad.mit.edu	37	8	113253976	113253976	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:113253976G>T	ENST00000297405.5	-	66	10685	c.10441C>A	c.(10441-10443)Ctg>Atg	p.L3481M	CSMD3_ENST00000455883.2_Missense_Mutation_p.L3312M|CSMD3_ENST00000352409.3_Missense_Mutation_p.L3411M|CSMD3_ENST00000343508.3_Missense_Mutation_p.L3441M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3481						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						GGTGTTCCCAGTGCAGGTCTA	0.348000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			41	32					6.07928e-31	1.24035e-30	0.009718	1	0
BTN3A1	11119	broad.mit.edu	37	6	26413455	26413455	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:26413455G>T	ENST00000289361.6	+	10	1445	c.1077G>T	c.(1075-1077)caG>caT	p.Q359H	BTN3A1_ENST00000414912.2_Missense_Mutation_p.Q307H|BTN3A1_ENST00000476549.2_3'UTR	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	359	B30.2/SPRY.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CTGAGGACCAGAGGAGTGTGC	0.493000													67	20					7.59065e-32	1.55542e-31	0.003610	1	0
CCDC18	343099	broad.mit.edu	37	1	93711761	93711761	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:93711761G>T	ENST00000343253.7	+	22	3580	c.3078_splice	c.e22+1	p.Q1026_splice	CCDC18_ENST00000401026.3_Splice_Site_p.Q1027_splice|CCDC18_ENST00000338949.4_Splice_Site_p.Q782_splice|CCDC18_ENST00000557479.1_Splice_Site_p.Q1145_splice|CCDC18_ENST00000334652.5_3'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	1026										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GAGCAGCTCAGGTTGATTTTT	0.363000													31	12					1.16021e-09	1.5304e-09	0.007291	1	0
PCDHB12	56124	broad.mit.edu	37	5	140590838	140590838	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:140590838C>T	ENST00000239450.2	+	1	2548	c.2359C>T	c.(2359-2361)Ccc>Tcc	p.P787S	PCDHB12_ENST00000541609.1_Missense_Mutation_p.P450S	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		787					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)			CGAAGAAAATCCCCCATTTCA	0.378000													18	6					0	0	0.006122	0	0
ASTN2	23245	broad.mit.edu	37	9	119738981	119738981	+	Splice_Site	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:119738981C>T	ENST00000313400.4	-	8	1775	c.1676_splice	c.e8+1	p.G559_splice	ASTN2_ENST00000373996.3_Splice_Site_p.G559_splice|ASTN2_ENST00000361209.2_Splice_Site_p.G508_splice|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	559						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCCACTCACCCTTCACTCTGT	0.537000													18	21					0	0	0.007413	0	0
IL6ST	3572	broad.mit.edu	37	5	55252045	55252045	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:55252045C>T	ENST00000381298.2	-	10	1387	c.1075G>A	c.(1075-1077)Gcc>Acc	p.A359T	IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.A359T|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000336909.5_Missense_Mutation_p.A359T|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000381294.3_Missense_Mutation_p.A359T	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	359	Fibronectin type-III 3.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTCCATTGGCTTCAAAAGGA	0.279000			O		hepatocellular ca								14	4					0	0	0.002450	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33596419	33596419	+	Splice_Site	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:33596419C>A	ENST00000321505.4	+	9	3691	c.3511_splice	c.e9+1	p.P1171_splice	KIAA1549L_ENST00000389726.3_Splice_Site_p.P1177_splice|KIAA1549L_ENST00000265654.5_Splice_Site_p.P1177_splice					KIAA1549-like																		GCAAGCTGACCGTAAGGGAAT	0.433000													42	43					2.26627e-22	4.21177e-22	0.007835	1	0
HSPD1	3329	broad.mit.edu	37	2	198363430	198363430	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:198363430G>T	ENST00000388968.3	-	2	410	c.143C>A	c.(142-144)gCc>gAc	p.A48D	HSPD1_ENST00000544407.1_Missense_Mutation_p.A48D|HSPD1_ENST00000345042.2_Missense_Mutation_p.A48D	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	48					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			CACAGCATCGGCTAAAAGGTC	0.423000													6	71					4.096e-09	5.34818e-09	0.001168	1	0
FARS2	10667	broad.mit.edu	37	6	5369009	5369009	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:5369009A>T	ENST00000324331.6	+	2	542	c.206A>T	c.(205-207)aAg>aTg	p.K69M	FARS2_ENST00000274680.4_Missense_Mutation_p.K69M			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	69					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CTCACCCGGAAGGTCCTCACC	0.582000													19	6					0	0	0.010504	0	0
ZMYND8	23613	broad.mit.edu	37	20	45853099	45853099	+	Nonsense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:45853099T>A	ENST00000311275.7	-	19	3320	c.3067A>T	c.(3067-3069)Aag>Tag	p.K1023*	ZMYND8_ENST00000471951.2_Nonsense_Mutation_p.K1043*|ZMYND8_ENST00000396281.4_Nonsense_Mutation_p.K1023*|ZMYND8_ENST00000458360.2_Nonsense_Mutation_p.K891*|ZMYND8_ENST00000536340.1_Nonsense_Mutation_p.K1050*|ZMYND8_ENST00000360911.3_Nonsense_Mutation_p.K972*|ZMYND8_ENST00000355972.4_Nonsense_Mutation_p.K1023*|ZMYND8_ENST00000540497.1_Nonsense_Mutation_p.K971*|ZMYND8_ENST00000352431.2_Nonsense_Mutation_p.K997*|ZMYND8_ENST00000461685.1_Nonsense_Mutation_p.K997*|ZMYND8_ENST00000372023.3_Nonsense_Mutation_p.K945*|ZMYND8_ENST00000262975.4_Nonsense_Mutation_p.K977*|ZMYND8_ENST00000446994.2_Nonsense_Mutation_p.K914*			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1023							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TGCTTCTTCTTGGTCTCATCC	0.602000													30	100					0	0	0.006999	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77528599	77528599	+	Silent	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:77528599G>C	ENST00000373304.3	-	3	937	c.645C>G	c.(643-645)acC>acG	p.T215T		NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	215					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TTTTTAGTAAGGTCAAAATGA	0.323000													21	9					0	0	0.008871	0	0
KIF21A	55605	broad.mit.edu	37	12	39751058	39751058	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:39751058G>A	ENST00000395670.3	-	9	1816	c.1397C>T	c.(1396-1398)gCc>gTc	p.A466V	KIF21A_ENST00000544797.2_Missense_Mutation_p.A466V|KIF21A_ENST00000541463.2_Missense_Mutation_p.A466V|KIF21A_ENST00000361961.3_Missense_Mutation_p.A466V|KIF21A_ENST00000361418.5_Missense_Mutation_p.A466V			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	466					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				ACCTGCTCTGGCAAGAACATG	0.438000													32	11					0	0	0.003755	0	0
ADCY2	108	broad.mit.edu	37	5	7766902	7766902	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:7766902A>G	ENST00000338316.4	+	17	2286	c.2197A>G	c.(2197-2199)Aat>Gat	p.N733D	ADCY2_ENST00000537121.1_Missense_Mutation_p.N553D	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	733					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GCGTGCGCAGAATTTATTTTT	0.428000													33	45					0	0	0.003755	0	0
PRKCB	5579	broad.mit.edu	37	16	24196448	24196448	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:24196448C>A	ENST00000303531.7	+	14	1702	c.1550C>A	c.(1549-1551)cCc>cAc	p.P517H	PRKCB_ENST00000321728.7_Missense_Mutation_p.P517H	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	517	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GCTTATCAGCCCTATGGGAAG	0.428000													26	44					1.42536e-11	2.0354e-11	0.004656	1	0
ABHD10	55347	broad.mit.edu	37	3	111705160	111705160	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:111705160A>T	ENST00000273359.3	+	3	403	c.376A>T	c.(376-378)Aca>Tca	p.T126S	ABHD10_ENST00000494817.1_Missense_Mutation_p.T126S|ABHD10_ENST00000534857.1_5'UTR	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	126						mitochondrion	serine-type peptidase activity			large_intestine(2)|lung(7)|skin(1)	10						AGAGGAAAGCACACTGGGGAA	0.358000													29	3					0	0	0.009535	0	0
A2M	2	broad.mit.edu	37	12	9265129	9265129	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:9265129G>T	ENST00000318602.7	-	3	581	c.274C>A	c.(274-276)Cca>Aca	p.P92T		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	92					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)	GAAGACTTTGGGACCTGAAAT	0.488000													12	1					5.50884e-06	6.40815e-06	0.001368	1	0
CCNA1	8900	broad.mit.edu	37	13	37014166	37014166	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:37014166C>A	ENST00000418263.1	+	6	1291	c.941C>A	c.(940-942)aCc>aAc	p.T314N	CCNA1_ENST00000255465.4_Missense_Mutation_p.T315N|CCNA1_ENST00000440264.1_Missense_Mutation_p.T271N|CCNA1_ENST00000449823.1_Missense_Mutation_p.T271N	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	315					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		GTCTATATCACCGATGATACA	0.383000													24	28					3.5997e-14	5.54221e-14	0.002299	1	0
NFATC2	4773	broad.mit.edu	37	20	50048654	50048654	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:50048654C>A	ENST00000371564.3	-	9	2891	c.2672G>T	c.(2671-2673)gGg>gTg	p.G891V	NFATC2_ENST00000396009.3_Missense_Mutation_p.G891V|NFATC2_ENST00000414705.1_Missense_Mutation_p.G871V	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	891					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					AATGGTCACCCCCGCAGGTAA	0.527000													35	76					8.73648e-17	1.43883e-16	0.004289	1	0
ITGB5	3693	broad.mit.edu	37	3	124578287	124578287	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:124578287C>A	ENST00000296181.4	-	3	459	c.163G>T	c.(163-165)Gga>Tga	p.G55*		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	55	PSI.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		CGTGGGCTTCCGAAGTCCTAG	0.552000													35	19					6.29468e-14	9.61839e-14	0.004878	1	0
NALCN	259232	broad.mit.edu	37	13	102051436	102051436	+	Silent	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:102051436T>C	ENST00000251127.6	-	2	123	c.42A>G	c.(40-42)ccA>ccG	p.P14P	NALCN_ENST00000376200.5_Silent_p.P14P|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Silent_p.P14P	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	14						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)					AGTCAGTGACTGGCTGGGCTT	0.458000													13	24					0	0	0.003163	0	0
VPS13C	54832	broad.mit.edu	37	15	62283946	62283946	+	Missense_Mutation	SNP	C	C	A	rs142155201		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:62283946C>A	ENST00000261517.5	-	17	1482	c.1409G>T	c.(1408-1410)cGt>cTt	p.R470L	VPS13C_ENST00000395896.4_Missense_Mutation_p.R470L|VPS13C_ENST00000395898.3_Missense_Mutation_p.R427L|VPS13C_ENST00000249837.3_Missense_Mutation_p.R427L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	470					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CCAGCCTCCACGTTTCTCGCC	0.368000													60	47					1.14856e-27	2.29067e-27	0.003610	1	0
MCF2	4168	broad.mit.edu	37	X	138708385	138708385	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:138708385C>A	ENST00000520602.1	-	9	1119	c.834G>T	c.(832-834)ctG>ctT	p.L278L	MCF2_ENST00000370573.4_Silent_p.L218L|MCF2_ENST00000370578.4_Silent_p.L363L|MCF2_ENST00000536274.1_Silent_p.L179L|MCF2_ENST00000519895.1_Silent_p.L278L|MCF2_ENST00000370576.4_Silent_p.L218L|MCF2_ENST00000338585.6_Silent_p.L218L|MCF2_ENST00000414978.1_Silent_p.L278L			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	218					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TCCATAGTTGCAGATACTGCT	0.338000													49	35					3.21987e-24	6.14506e-24	0.003610	1	0
BSN	8927	broad.mit.edu	37	3	49698459	49698459	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:49698459C>T	ENST00000296452.4	+	6	9295	c.9181C>T	c.(9181-9183)Cca>Tca	p.P3061S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3061					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)		GCCTCCAGCCCCACAGTATTC	0.667000													14	3					0	0	0.001855	0	0
C2orf16	84226	broad.mit.edu	37	2	27801652	27801652	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:27801652C>T	ENST00000408964.2	+	1	2264	c.2213C>T	c.(2212-2214)aCa>aTa	p.T738I		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	738										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)					TCTTCAACCACACTCATTTCA	0.438000													24	44					0	0	0.003330	0	0
ESX1	80712	broad.mit.edu	37	X	103495217	103495217	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:103495217G>T	ENST00000372588.4	-	4	996	c.913C>A	c.(913-915)Ccc>Acc	p.P305T		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	305	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GGCGGCCAGGGTGGCACAGGC	0.781000													7	17					8.12818e-05	9.06827e-05	0.001984	1	0
TNR	7143	broad.mit.edu	37	1	175331857	175331857	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:175331857G>T	ENST00000367674.1	-	14	3504	c.2796C>A	c.(2794-2796)agC>agA	p.S932R	TNR_ENST00000263525.2_Missense_Mutation_p.S932R	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	932	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CGCTGTTGAGGCTGATTTCGT	0.552000													43	51					1.15183e-24	2.21015e-24	0.009718	1	0
SIRPG	55423	broad.mit.edu	37	20	1629907	1629907	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:1629907C>T	ENST00000381580.1	-	2	301	c.122G>A	c.(121-123)cGg>cAg	p.R41Q	SIRPG_ENST00000303415.3_Missense_Mutation_p.R74Q|SIRPG_ENST00000344103.4_Missense_Mutation_p.R74Q|SIRPG_ENST00000216927.4_Missense_Mutation_p.R74Q|SIRPG_ENST00000381583.2_Missense_Mutation_p.R74Q			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	74	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GATTAATTCCCGGCCTGGTCC	0.512000													15	43					0	0	0.002450	0	0
ESR1	2099	broad.mit.edu	37	6	152265379	152265379	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:152265379G>T	ENST00000440973.1	+	6	1202	c.832G>T	c.(832-834)Ggt>Tgt	p.G278C	ESR1_ENST00000206249.3_Missense_Mutation_p.G278C|ESR1_ENST00000456483.2_Intron|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000338799.5_Missense_Mutation_p.G278C|ESR1_ENST00000443427.1_Missense_Mutation_p.G278C|ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000544394.1_Missense_Mutation_p.G105C	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	278	Hinge.|Interaction with AKAP13.|Mediates interaction with DNTTIP2.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	GGAGGGCAGGGGTGAAGTGGG	0.517000													42	5					1.06522e-23	2.01666e-23	0.003214	1	0
PTPRN	5798	broad.mit.edu	37	2	220167434	220167434	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:220167434C>A	ENST00000295718.2	-	5	743	c.503G>T	c.(502-504)gGg>gTg	p.G168V	PTPRN_ENST00000423636.2_Missense_Mutation_p.G78V|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Missense_Mutation_p.G168V	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	168					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GGAGCTGGCCCCAGCTCCACC	0.647000													47	7					5.2432e-18	8.96847e-18	0.003610	1	0
ZMYM2	7750	broad.mit.edu	37	13	20579273	20579273	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:20579273A>G	ENST00000382869.3	+	5	1444	c.1193A>G	c.(1192-1194)cAg>cGg	p.Q398R	ZMYM2_ENST00000382871.2_Missense_Mutation_p.Q398R|ZMYM2_ENST00000382874.2_Missense_Mutation_p.Q398R|ZMYM2_ENST00000382881.3_Missense_Mutation_p.Q311R	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		GAGTCCTTCCAGGAATTCTGT	0.323000													14	25					0	0	0.006122	0	0
MED12	9968	broad.mit.edu	37	X	70341558	70341558	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:70341558C>A	ENST00000333646.6	+	7	1192	c.993C>A	c.(991-993)acC>acA	p.T331T	MED12_ENST00000374102.1_Silent_p.T331T|MED12_ENST00000374080.3_Silent_p.T331T	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	331					androgen receptor signaling pathway|negative regulation of Wnt 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|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TACCCACCACCCCTGCTCCTC	0.567000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						36	26					6.84511e-11	9.50673e-11	0.003271	1	0
LUC7L3	51747	broad.mit.edu	37	17	48821101	48821101	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:48821101A>C	ENST00000505658.1	+	6	650	c.461A>C	c.(460-462)gAa>gCa	p.E154A	LUC7L3_ENST00000393227.2_Missense_Mutation_p.E154A|LUC7L3_ENST00000544170.1_Missense_Mutation_p.E78A|LUC7L3_ENST00000240304.1_Missense_Mutation_p.E154A			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	154					apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AAAGTAGAAGAAGCCCAGGGG	0.373000													47	19					0	0	0.003610	0	0
EFTUD1	79631	broad.mit.edu	37	15	82422771	82422771	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:82422771C>A	ENST00000268206.7	-	20	3474	c.3306G>T	c.(3304-3306)gtG>gtT	p.V1102V	EFTUD1_ENST00000359445.3_Silent_p.V1051V	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	1102					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TCTTTTCTTCCACATAAAGCC	0.443000													28	26					4.22769e-11	5.93552e-11	0.006320	1	0
OLIG3	167826	broad.mit.edu	37	6	137814589	137814589	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:137814589G>T	ENST00000367734.2	-	1	942	c.719C>A	c.(718-720)cCc>cAc	p.P240H		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GATGGTGCAGGGGCAGGGCAG	0.701000													9	2					0.000274275	0.000298482	0.004482	1	0
HTR3A	3359	broad.mit.edu	37	11	113857438	113857438	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:113857438A>T	ENST00000504030.2	+	7	1349	c.904A>T	c.(904-906)Act>Tct	p.T302S	HTR3A_ENST00000355556.2_Missense_Mutation_p.T308S|HTR3A_ENST00000375498.2_Missense_Mutation_p.T308S|HTR3A_ENST00000506841.2_Missense_Mutation_p.T302S|HTR3A_ENST00000535865.1_Missense_Mutation_p.T46S|HTR3A_ENST00000299961.5_Missense_Mutation_p.T287S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	302					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TGCCATCGGCACTCCTCTCAT	0.597000													16	17					0	0	0.004990	0	0
LTBP1	4052	broad.mit.edu	37	2	33614329	33614329	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:33614329G>T	ENST00000404816.2	+	32	5143	c.4790G>T	c.(4789-4791)aGt>aTt	p.S1597I	LTBP1_ENST00000404525.1_Missense_Mutation_p.S1218I|LTBP1_ENST00000354476.3_Missense_Mutation_p.S1598I|LTBP1_ENST00000272273.5_Missense_Mutation_p.S495I|LTBP1_ENST00000402934.1_Missense_Mutation_p.S1216I|LTBP1_ENST00000418533.2_Missense_Mutation_p.S1229I|LTBP1_ENST00000390003.4_Missense_Mutation_p.S1272I|LTBP1_ENST00000407925.1_Missense_Mutation_p.S1271I			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1597					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)				GTTGACTTCAGTGAACAGTAT	0.473000													22	25					8.10497e-08	1.01348e-07	0.010504	1	0
BRS3	680	broad.mit.edu	37	X	135572419	135572419	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:135572419G>A	ENST00000370648.3	+	2	790	c.562G>A	c.(562-564)Gta>Ata	p.V188I		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	188					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					ATTTTCAAATGTATACACTTT	0.408000													47	31					0	0	0.003214	0	0
FER1L6	654463	broad.mit.edu	37	8	125072822	125072822	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:125072822G>T	ENST00000522917.1	+	24	3225	c.3019G>T	c.(3019-3021)Gtg>Ttg	p.V1007L	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.V1007L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1007						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)			AATGAAGAAGGTGCAGCTCCT	0.562000													33	16					5.60225e-13	8.32703e-13	0.009535	1	0
PURG	29942	broad.mit.edu	37	8	30890256	30890256	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:30890256G>T	ENST00000475541.1	-	1	975	c.43C>A	c.(43-45)Cgc>Agc	p.R15S	PURG_ENST00000339382.2_Missense_Mutation_p.R15S	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	15	Poly-Gly.					nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		TTGCCTccgcggccgcggccg	0.642000													4	0					0.00024832	0.000272116	0.009096	1	0
ZNF862	643641	broad.mit.edu	37	7	149559330	149559330	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:149559330C>T	ENST00000223210.4	+	7	3326	c.3081C>T	c.(3079-3081)gcC>gcT	p.A1027A		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	1027					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						AGCTCATGGCCGTGGTGGTCT	0.602000													12	23					0	0	0.000978	0	0
HMCN1	83872	broad.mit.edu	37	1	186083236	186083236	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:186083236C>A	ENST00000271588.4	+	73	11486	c.11257C>A	c.(11257-11259)Cta>Ata	p.L3753I	HMCN1_ENST00000367492.2_Missense_Mutation_p.L3753I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3753	Ig-like C2-type 36.				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						TGGAGCTGTTCTAGCTGGGAA	0.368000													43	44					2.00842e-17	3.38637e-17	0.002522	1	0
SLITRK3	22865	broad.mit.edu	37	3	164906124	164906124	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:164906124G>A	ENST00000475390.1	-	2	2938	c.2495C>T	c.(2494-2496)aCg>aTg	p.T832M	SLITRK3_ENST00000241274.3_Missense_Mutation_p.T832M			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	832						integral to membrane		p.T832M(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GTGATTCACCGTCACTATGGT	0.552000										HNSCC(40;0.11)			18	82					0	0	0.004990	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166267	19166267	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:19166267G>A	ENST00000375371.3	-	6	2367	c.2346C>T	c.(2344-2346)gcC>gcT	p.A782A		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	782					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCCCGCTGTAGGCAGACATGA	0.567000													10	7					0	0	0.006214	0	0
MAGT1	84061	broad.mit.edu	37	X	77109424	77109424	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:77109424G>A	ENST00000358075.6	-	7	982	c.896C>T	c.(895-897)gCt>gTt	p.A299V		NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	267					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						GTGTGTTTCAGCTACAAACTG	0.348000													76	54					0	0	0.003610	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485261	97485261	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:97485261G>A	ENST00000376705.2	+	2	1249	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	409						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					GCAGCTTTACGAGTATGCAAA	0.572000													24	45					0	0	0.002780	0	0
KCNH7	90134	broad.mit.edu	37	2	163253371	163253371	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:163253371C>A	ENST00000332142.5	-	11	2591	c.2492G>T	c.(2491-2493)tGt>tTt	p.C831F		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	831					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)	ATGCAAGTCACAGTATGTGAG	0.353000													28	6					3.90053e-15	6.11154e-15	0.002445	1	0
SLC12A9	56996	broad.mit.edu	37	7	100459382	100459382	+	Silent	SNP	G	G	T	rs139020194		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:100459382G>T	ENST00000354161.3	+	12	1685	c.1560G>T	c.(1558-1560)ctG>ctT	p.L520L	SLC12A9_ENST00000540482.1_Silent_p.L520L|SLC12A9_ENST00000428758.1_Silent_p.L520L|SLC12A9_ENST00000275729.3_Silent_p.L431L|SLC12A9_ENST00000415287.1_Silent_p.L431L	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	520						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGCTTCGGCTGGACGTCCGGA	0.657000													33	84					3.11337e-16	5.04545e-16	0.002836	1	0
KCNH2	3757	broad.mit.edu	37	7	150643995	150643995	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:150643995G>T	ENST00000392968.2	-	12	4132	c.3012C>A	c.(3010-3012)ctC>ctA	p.L1004L	KCNH2_ENST00000262186.5_Silent_p.L1100L|KCNH2_ENST00000330883.4_Silent_p.L760L			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	1100					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)	TGAGGGTGGGGAGGGGGCTGA	0.642000													53	9					1.11015e-26	2.17731e-26	0.003610	1	0
ILF2	3608	broad.mit.edu	37	1	153640497	153640497	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:153640497C>A	ENST00000361891.4	-	5	395	c.270G>T	c.(268-270)gtG>gtT	p.V90V	ILF2_ENST00000368681.1_Silent_p.V90V	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	90					immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCCTGGAGCCACAATCAGAT	0.338000													11	25					7.03913e-09	9.0906e-09	0.001368	1	0
ILDR2	387597	broad.mit.edu	37	1	166904641	166904641	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:166904641G>A	ENST00000271417.3	-	6	832	c.777C>T	c.(775-777)atC>atT	p.I259I	ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000529071.1_Silent_p.I240I|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000469934.2_Silent_p.I259I	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	259						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GGACAGAGGGGATGGAGTAAG	0.597000													33	27					0	0	0.004289	0	0
AXDND1	126859	broad.mit.edu	37	1	179338016	179338016	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:179338016C>A	ENST00000367618.3	+	3	566	c.179C>A	c.(178-180)cCc>cAc	p.P60H	AXDND1_ENST00000461179.2_Intron|AXDND1_ENST00000457238.2_Missense_Mutation_p.P60H	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	60										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						GAGTTCATTCCCAAAGAAGTT	0.398000													15	25					1.3612e-06	1.62748e-06	0.003163	1	0
NF1	4763	broad.mit.edu	37	17	29653020	29653020	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:29653020A>G	ENST00000358273.4	+	37	5401	c.5018A>G	c.(5017-5019)aAc>aGc	p.N1673S	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.N1652S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1673	CRAL-TRIO.				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.?(3)	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)		GCTTACGACAACGTCTCCGCA	0.463000			"""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)			21	63					0	0	0.010504	0	0
TES	26136	broad.mit.edu	37	7	115890435	115890435	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:115890435G>T	ENST00000358204.4	+	4	802	c.587G>T	c.(586-588)tGt>tTt	p.C196F	TES_ENST00000393481.2_Missense_Mutation_p.C187F|AC002066.1_ENST00000446355.2_RNA|TES_ENST00000537767.1_Intron|AC073130.3_ENST00000444244.1_RNA	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	196	PET.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			AAACTTCCCTGTGAGATGGAT	0.517000													26	51					1.55469e-16	2.54568e-16	0.003330	1	0
RBP3	5949	broad.mit.edu	37	10	48388252	48388252	+	Missense_Mutation	SNP	C	C	G	rs138240045		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:48388252C>G	ENST00000224600.4	-	1	2739	c.2626G>C	c.(2626-2628)Gca>Cca	p.A876P		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	876	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.A876T(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ACAGAGAGTGCGCCTCCGGCC	0.652000													8	11					0	0	0.004482	0	0
ATP7A	538	broad.mit.edu	37	X	77267028	77267028	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:77267028C>A	ENST00000341514.6	+	9	2184	c.2029C>A	c.(2029-2031)Cac>Aac	p.H677N	ATP7A_ENST00000343533.5_Missense_Mutation_p.H677N|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	677					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TATGGACCACCACTTTGCAAC	0.378000													161	127					9.9684e-85	2.20862e-84	0.003610	1	0
MYO7B	4648	broad.mit.edu	37	2	128351163	128351163	+	Missense_Mutation	SNP	G	G	T	rs147949489	by1000genomes	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:128351163G>T	ENST00000389524.4	+	18	2241	c.2188G>T	c.(2188-2190)Gtg>Ttg	p.V730L	MYO7B_ENST00000409816.2_Missense_Mutation_p.V730L|MYO7B_ENST00000428314.1_Missense_Mutation_p.V730L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	730						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CATCACTGACGTGTGGCTGCG	0.617000													63	11					2.72615e-36	5.75251e-36	0.003610	1	0
TMEM190	147744	broad.mit.edu	37	19	55889205	55889205	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:55889205T>A	ENST00000291934.3	+	4	274	c.256T>A	c.(256-258)Tgg>Agg	p.W86R	CTD-2105E13.15_ENST00000595064.1_RNA	NM_139172.1	NP_631911.1	Q8WZ59	TM190_HUMAN	transmembrane protein 190	86						integral to membrane				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GGCGCTGGTCTGGACGTGCAG	0.687000													14	44					0	0	0.003163	0	0
SLC25A30	253512	broad.mit.edu	37	13	45975271	45975271	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:45975271C>A	ENST00000539591.1	-	6	571	c.408G>T	c.(406-408)aaG>aaT	p.K136N				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	187					mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		TAAGATGCTTCTTGGTGATGT	0.403000													22	22					9.39395e-14	1.42772e-13	0.006320	1	0
FEZ1	9638	broad.mit.edu	37	11	125325984	125325984	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:125325984C>A	ENST00000278919.3	-	6	920	c.686G>T	c.(685-687)gGg>gTg	p.G229V	FEZ1_ENST00000527350.1_5'UTR	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	229					axon guidance|cell adhesion|transport	microtubule|plasma membrane				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		CAGCTCAGACCCAGACATGTG	0.657000													11	8					3.86212e-05	4.34642e-05	0.008291	1	0
USP5	8078	broad.mit.edu	37	12	6970680	6970680	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:6970680G>T	ENST00000229268.8	+	13	1624	c.1572G>T	c.(1570-1572)cgG>cgT	p.R524R	USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_Silent_p.R524R	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	524					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						AACTGGTTCGGGCCCAGGTGC	0.607000													54	8					4.17328e-34	8.71534e-34	0.003610	1	0
OR10W1	81341	broad.mit.edu	37	11	58034886	58034886	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:58034886G>C	ENST00000395079.2	-	1	846	c.445C>G	c.(445-447)Caa>Gaa	p.Q149E		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GCCACCAGTTGTAAGGACAGG	0.507000													11	20					0	0	0.008291	0	0
DNAH3	55567	broad.mit.edu	37	16	20996710	20996710	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:20996710C>A	ENST00000261383.3	-	48	7353	c.7354G>T	c.(7354-7356)Gca>Tca	p.A2452S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2452	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGCTCGTATGCGTTCATGAAT	0.547000													9	14					0.000274275	0.000298482	0.004482	1	0
TMEM260	54916	broad.mit.edu	37	14	57078985	57078985	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:57078985G>T	ENST00000261556.6	+	7	961	c.839G>T	c.(838-840)aGt>aTt	p.S280I	TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000538838.1_Missense_Mutation_p.S280I|TMEM260_ENST00000553335.1_3'UTR	NM_017799.3	NP_060269.3			transmembrane protein 260																		ATAGGATCCAGTATGTCTGAA	0.299000													46	4					1.47857e-17	2.50193e-17	0.003610	1	0
NBAS	51594	broad.mit.edu	37	2	15359018	15359018	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:15359018C>A	ENST00000281513.5	-	48	6336	c.6311G>T	c.(6310-6312)cGg>cTg	p.R2104L	NBAS_ENST00000441750.1_Missense_Mutation_p.R1984L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2104										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						AATGCGGGGCCGCACCGGCCA	0.552000													20	34					5.35356e-11	7.4718e-11	0.002780	1	0
COL24A1	255631	broad.mit.edu	37	1	86591289	86591289	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:86591289G>T	ENST00000370571.2	-	3	1096	c.730C>A	c.(730-732)Caa>Aaa	p.Q244K	COL24A1_ENST00000436319.1_Missense_Mutation_p.Q244K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	244					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)		TTGTCTGCTTGGCGACACTGC	0.408000													28	7					1.16021e-09	1.5304e-09	0.007291	1	0
NLRP12	91662	broad.mit.edu	37	19	54297355	54297355	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:54297355C>G	ENST00000324134.6	-	10	3302	c.3134G>C	c.(3133-3135)aGt>aCt	p.S1045T	NLRP12_ENST00000535162.1_Missense_Mutation_p.S988T|NLRP12_ENST00000391772.1_Missense_Mutation_p.S876T|NLRP12_ENST00000354278.3_Missense_Mutation_p.S876T|NLRP12_ENST00000345770.5_Missense_Mutation_p.S990T|NLRP12_ENST00000351894.4_Missense_Mutation_p.S933T|NLRP12_ENST00000391773.1_Missense_Mutation_p.S1046T|NLRP12_ENST00000391775.3_Missense_Mutation_p.S988T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	1045					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGCCAACCTACTGTGGGTCAT	0.443000													33	36					0	0	0.006230	0	0
ITGA8	8516	broad.mit.edu	37	10	15573122	15573122	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:15573122G>A	ENST00000378076.3	-	28	3262	c.2909C>T	c.(2908-2910)tCc>tTc	p.S970F		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	970					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						GGACACCAGGGATGCAAGAGC	0.333000													12	29					0	0	0.000978	0	0
PCLO	27445	broad.mit.edu	37	7	82580282	82580282	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:82580282C>A	ENST00000423517.2	-	6	9959	c.9622G>T	c.(9622-9624)Gat>Tat	p.D3208Y	PCLO_ENST00000333891.8_Missense_Mutation_p.D3208Y	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3139	Gln-rich.				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						TGTTGTTTATCTTCTTCAGGG	0.473000													18	45					3.99206e-14	6.12634e-14	0.007413	1	0
SPTA1	6708	broad.mit.edu	37	1	158639547	158639547	+	Silent	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:158639547A>T	ENST00000368148.3	-	13	1809	c.1629T>A	c.(1627-1629)atT>atA	p.I543I	SPTA1_ENST00000368147.3_Silent_p.I543I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	543					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGTCATCACCAATCAATTTGG	0.413000													69	114					0	0	0.003610	0	0
GRHL2	79977	broad.mit.edu	37	8	102656453	102656453	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:102656453G>T	ENST00000251808.3	+	13	1950	c.1612_splice	c.e13+1	p.V538_splice	GRHL2_ENST00000395927.1_Splice_Site_p.V522_splice|GRHL2_ENST00000517674.1_3'UTR	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	538						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GACAAAGCGAGGTATCTCTCC	0.562000													9	3					2.17888e-05	2.48764e-05	0.006214	1	0
CNNM1	26507	broad.mit.edu	37	10	101147614	101147614	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:101147614G>C	ENST00000356713.4	+	8	2667	c.2378G>C	c.(2377-2379)tGc>tCc	p.C793S	CNNM1_ENST00000446890.1_Missense_Mutation_p.C722S|CNNM1_ENST00000370528.3_Missense_Mutation_p.C722S|CNNM1_ENST00000370534.4_Missense_Mutation_p.C449S	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	793					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CTCACTGCCTGCCACATGGAC	0.617000													7	16					0	0	0.003080	0	0
CTNND2	1501	broad.mit.edu	37	5	11082812	11082812	+	Silent	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:11082812G>C	ENST00000304623.8	-	16	2973	c.2784C>G	c.(2782-2784)ctC>ctG	p.L928L	CTNND2_ENST00000359640.2_Silent_p.L870L|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.L591L|CTNND2_ENST00000458100.2_Silent_p.L495L|CTNND2_ENST00000511377.1_Silent_p.L837L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	928					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						ACATACCGATGAGCTCCTTAT	0.507000													33	54					0	0	0.005524	0	0
ZNF98	148198	broad.mit.edu	37	19	22574632	22574632	+	Nonsense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:22574632T>A	ENST00000357774.5	-	4	1526	c.1405A>T	c.(1405-1407)Aaa>Taa	p.K469*		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TTAAAAGCTTTGCCACATTCT	0.368000													10	99					0	0	0.001855	0	0
PPP3R1	5534	broad.mit.edu	37	2	68415683	68415683	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:68415683T>C	ENST00000234310.3	-	3	586	c.183A>G	c.(181-183)atA>atG	p.I61M	PPP3R1_ENST00000409377.1_Missense_Mutation_p.I51M|PPP3R1_ENST00000409752.1_Missense_Mutation_p.I80M	NM_000945.3	NP_000936.1	P63098	CANB1_HUMAN	protein phosphatase 3, regulatory subunit B, alpha	61	EF-hand 2.				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	calcineurin complex|cytosol	calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding			large_intestine(1)	1					Pimecrolimus(DB00337)	CTGTGTCGAATATATCTATTA	0.353000													33	52					0	0	0.002836	0	0
COL6A3	1293	broad.mit.edu	37	2	238303482	238303482	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:238303482G>T	ENST00000295550.4	-	3	909	c.457C>A	c.(457-459)Cac>Aac	p.H153N	COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.H153N|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000346358.4_Missense_Mutation_p.H153N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	153	Nonhelical region.|VWFA 1.				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)		TCCTTCGAGTGTCCATCAGTT	0.493000													65	7					1.72039e-30	3.495e-30	0.003610	1	0
HECA	51696	broad.mit.edu	37	6	139498103	139498103	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:139498103G>T	ENST00000367658.2	+	4	1778	c.1493G>T	c.(1492-1494)gGg>gTg	p.G498V	RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000585447.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000590219.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	498					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		AAGCACTGTGGGAAGCCGGTG	0.537000													11	5					3.07112e-06	3.63206e-06	0.000978	1	0
HERC2	8924	broad.mit.edu	37	15	28538048	28538048	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:28538048C>A	ENST00000261609.7	-	4	416	c.308G>T	c.(307-309)tGg>tTg	p.W103L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	103					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTGCTTGCCCCATACCCAGCT	0.393000													18	15					9.16793e-09	1.1733e-08	0.004990	1	0
TMEM185A	84548	broad.mit.edu	37	X	148690348	148690348	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:148690348C>G	ENST00000316916.8	-	3	693	c.389G>C	c.(388-390)tGc>tCc	p.C130S	TMEM185A_ENST00000536359.1_Missense_Mutation_p.C71S|TMEM185A_ENST00000507237.1_Missense_Mutation_p.C130S	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	130						integral to membrane				kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GCCCCAAACGCAAGCTGCAAC	0.478000													63	219					0	0	0.003610	0	0
TRIOBP	11078	broad.mit.edu	37	22	38155203	38155203	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:38155203G>C	ENST00000406386.3	+	17	6511	c.6256G>C	c.(6256-6258)Ggg>Cgg	p.G2086R	RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000403663.2_Missense_Mutation_p.G373R|TRIOBP_ENST00000407319.2_Missense_Mutation_p.G373R	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2086					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)					GCGTCTCCAAGGGGAGGCTCC	0.652000													7	12					0	0	0.003080	0	0
FCRL4	83417	broad.mit.edu	37	1	157555991	157555991	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:157555991C>A	ENST00000271532.1	-	6	1237	c.1102G>T	c.(1102-1104)Gtc>Ttc	p.V368F	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	368	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				ATGCTCTGGACAGGGCCGTAG	0.493000											OREG0007229	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=FCRL4|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	38	45					7.53189e-24	1.42784e-23	0.007835	1	0
GTPBP1	9567	broad.mit.edu	37	22	39125575	39125575	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:39125575G>T	ENST00000216044.5	+	11	2058	c.1825G>T	c.(1825-1827)Ggt>Tgt	p.G609C		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	609					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					GGGCCCGTCTGGTGGGCCAGC	0.607000													16	8					6.94344e-10	9.24488e-10	0.006122	1	0
AUTS2	26053	broad.mit.edu	37	7	70246712	70246712	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:70246712G>T	ENST00000342771.4	+	15	2437	c.2116G>T	c.(2116-2118)Gca>Tca	p.A706S	AUTS2_ENST00000406775.2_Missense_Mutation_p.A682S	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	706										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCATGACCTGGCACGGCCTTC	0.537000													30	68					2.2171e-23	4.18622e-23	0.009535	1	0
DRD2	1813	broad.mit.edu	37	11	113287642	113287642	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:113287642C>G	ENST00000362072.3	-	4	819	c.475G>C	c.(475-477)Gtc>Ctc	p.V159L	DRD2_ENST00000538967.1_Missense_Mutation_p.V159L|DRD2_ENST00000544518.1_Missense_Mutation_p.V158L|DRD2_ENST00000542968.1_Missense_Mutation_p.V159L|DRD2_ENST00000535984.1_Intron|DRD2_ENST00000355319.2_Missense_Mutation_p.V159L|DRD2_ENST00000346454.3_Missense_Mutation_p.V159L	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	159					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)	AGGACCCAGACGATGGAGATC	0.592000													3	20					0	0	0.004672	0	0
PCDHA6	56142	broad.mit.edu	37	5	140207853	140207853	+	Silent	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:140207853G>C	ENST00000529310.1	+	1	291	c.177G>C	c.(175-177)ctG>ctC	p.L59L	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.L59L|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCGGAGCTGGTGCCGCGCC	0.627000													48	13					0	0	0.003610	0	0
ZNF221	7638	broad.mit.edu	37	19	44470421	44470421	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:44470421G>T	ENST00000251269.5	+	6	1095	c.767G>T	c.(766-768)tGt>tTt	p.C256F	ZNF221_ENST00000592350.1_Missense_Mutation_p.C256F|ZNF221_ENST00000587682.1_Missense_Mutation_p.C256F	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	256			C -> R (in dbSNP:rs439676).		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)				CCATTCAAATGTGGGCAATGT	0.398000													58	83					4.46115e-38	9.45577e-38	0.003610	1	0
LOC101927079	101927079	broad.mit.edu	37	15	22332473	22332473	+	RNA	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:22332473A>T	ENST00000558896.1	+	0	280																											TCTTCTTGGGAGCTGCAGCTA	0.383000													25	100					0	0	0.003954	0	0
DACH1	1602	broad.mit.edu	37	13	72204847	72204847	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:72204847G>T	ENST00000305425.4	-	3	1395	c.973C>A	c.(973-975)Ctg>Atg	p.L325M	DACH1_ENST00000354591.4_Intron|DACH1_ENST00000359684.2_Missense_Mutation_p.L325M|DACH1_ENST00000313174.7_Missense_Mutation_p.L325M	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	323	Interaction with SIX6 and HDAC3 (By similarity).|Poly-Ala.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		gctgcTGTCAGACCTTAAAAG	0.353000													20	28					8.34094e-07	1.00063e-06	0.008871	1	0
GYG2	8908	broad.mit.edu	37	X	2772127	2772127	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:2772127C>T	ENST00000381163.3	+	5	631	c.349C>T	c.(349-351)Ctc>Ttc	p.L117F	GYG2_ENST00000338623.5_Missense_Mutation_p.L117F|GYG2_ENST00000398806.3_Missense_Mutation_p.L86F|GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000542787.1_Missense_Mutation_p.L117F	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	117					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		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)				CGGGCTCACCCTCACCAAGCT	0.502000													10	2					0	0	0.008291	0	0
SPATA31A7	26165	broad.mit.edu	37	9	65508168	65508168	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:65508168G>T	ENST00000355045.2	-	2	243	c.215C>A	c.(214-216)cCc>cAc	p.P72H		NM_015667.2	NP_056482.2			SPATA31 subfamily A, member 7																		CCTGCCTCTGGGCCTCCGCCT	0.522000													64	108					1.46168e-27	2.91104e-27	0.003610	1	0
TNR	7143	broad.mit.edu	37	1	175360456	175360456	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:175360456C>A	ENST00000367674.1	-	7	2183	c.1475G>T	c.(1474-1476)cGc>cTc	p.R492L	TNR_ENST00000263525.2_Missense_Mutation_p.R492L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	492	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.R492H(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGGGGGGCTGCGGGCCTGTTC	0.547000													35	58					3.62531e-18	6.22359e-18	0.004289	1	0
ASXL3	80816	broad.mit.edu	37	18	31319839	31319839	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:31319839C>G	ENST00000269197.5	+	11	2471	c.2471C>G	c.(2470-2472)cCg>cGg	p.P824R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	824					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						GAAGCATTTCCGTCTGAAGAT	0.448000													10	9					0	0	0.006214	0	0
SCN5A	6331	broad.mit.edu	37	3	38603945	38603945	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:38603945G>T	ENST00000413689.1	-	22	4117	c.3924C>A	c.(3922-3924)ctC>ctA	p.L1308L	SCN5A_ENST00000443581.1_Silent_p.L1307L|SCN5A_ENST00000423572.2_Silent_p.L1307L|SCN5A_ENST00000414099.2_Silent_p.L1308L|SCN5A_ENST00000451551.2_Silent_p.L1254L|SCN5A_ENST00000333535.4_Silent_p.L1308L|SCN5A_ENST00000450102.2_Silent_p.L1254L|SCN5A_ENST00000449557.2_Silent_p.L1254L|SCN5A_ENST00000455624.2_Silent_p.L1307L|SCN5A_ENST00000425664.1_Silent_p.L1308L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1308			L -> F (associated with I-232 in a case of lidocaine-induced Brugada syndrome; dbSNP:rs41313031).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCAGAGGACGGAGTGCACGCA	0.637000													10	0					7.48243e-07	9.00686e-07	0.006214	1	0
ZNF711	7552	broad.mit.edu	37	X	84510740	84510740	+	Silent	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:84510740T>A	ENST00000360700.4	+	4	1441	c.555T>A	c.(553-555)acT>acA	p.T185T	ZNF711_ENST00000395402.1_Silent_p.T163T|ZNF711_ENST00000276123.3_Silent_p.T185T|ZNF711_ENST00000542798.1_5'UTR|ZNF711_ENST00000373165.3_Silent_p.T185T			Q9Y462	ZN711_HUMAN	zinc finger protein 711	185					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CTACAGTTACTATAAAAACCG	0.388000													24	46					0	0	0.003330	0	0
OR4M2	390538	broad.mit.edu	37	15	22368844	22368844	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:22368844A>G	ENST00000332663.2	+	1	367	c.269A>G	c.(268-270)aAg>aGg	p.K90R	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GTGGAGAGGAAGATAATTTCT	0.438000													57	288					0	0	0.003610	0	0
NT5C1B	93034	broad.mit.edu	37	2	18767604	18767604	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:18767604G>T	ENST00000304081.4	-	3	274	c.174C>A	c.(172-174)cgC>cgA	p.R58R	NT5C1B_ENST00000460052.1_5'UTR|NT5C1B-RDH14_ENST00000532967.1_Silent_p.R118R|NT5C1B_ENST00000600945.1_Silent_p.R118R|NT5C1B_ENST00000359846.2_Silent_p.R118R	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				ACCATTGACTGCGCACAAGGT	0.498000													48	7					2.24722e-20	4.03362e-20	0.003610	1	0
CLIP3	25999	broad.mit.edu	37	19	36518058	36518058	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:36518058G>T	ENST00000360535.4	-	3	509	c.282C>A	c.(280-282)caC>caA	p.H94Q	CLIP3_ENST00000593074.1_Missense_Mutation_p.H94Q|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	94					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGTCTATCTTGTGCTGGACTT	0.607000													29	42					3.99451e-17	6.66378e-17	0.009535	1	0
FAT3	120114	broad.mit.edu	37	11	92616385	92616385	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:92616385G>T	ENST00000298047.6	+	23	12780	c.12763G>T	c.(12763-12765)Ggg>Tgg	p.G4255W	FAT3_ENST00000409404.2_Missense_Mutation_p.G4255W|FAT3_ENST00000533797.1_Missense_Mutation_p.G590W|FAT3_ENST00000525166.1_Missense_Mutation_p.G4105W			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4255					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GATCGTGGACGGGCTGGGAGG	0.667000										TCGA Ovarian(4;0.039)			37	46					4.0492e-12	5.89504e-12	0.006999	1	0
PEAK1	79834	broad.mit.edu	37	15	77406890	77406890	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:77406890C>A	ENST00000560626.2	-	7	5324	c.4849G>T	c.(4849-4851)Gag>Tag	p.E1617*	PEAK1_ENST00000312493.4_Nonsense_Mutation_p.E1617*			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1617	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TATTCCCTCTCCTTCAGCTCT	0.562000													9	12					7.48243e-07	9.00686e-07	0.006214	1	0
HAVCR1	26762	broad.mit.edu	37	5	156482482	156482482	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:156482482G>T	ENST00000339252.3	-	2	641	c.109C>A	c.(109-111)Cac>Aac	p.H37N	HAVCR1_ENST00000523175.1_Missense_Mutation_p.H37N|HAVCR1_ENST00000425854.1_Missense_Mutation_p.H37N|HAVCR1_ENST00000544197.1_Missense_Mutation_p.H37N|HAVCR1_ENST00000522693.1_Missense_Mutation_p.H37N	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	37	Ig-like V-type.				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)			CCACTGTAGTGGCAGGGTAGT	0.483000													24	2					7.07758e-08	8.87357e-08	0.004656	1	0
DHRSX	207063	broad.mit.edu	37	X	2184953	2184953	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:2184953C>A	ENST00000334651.5	-	5	476	c.424G>T	c.(424-426)Gat>Tat	p.D142Y	DHRSX_ENST00000464935.1_5'UTR	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	142							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)				TCGAATCCATCTCTGGTTTTC	0.507000													63	16					1.12612e-26	2.20557e-26	0.003610	1	0
DMD	1756	broad.mit.edu	37	X	32834669	32834669	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:32834669C>A	ENST00000357033.4	-	6	652	c.446G>T	c.(445-447)cGt>cTt	p.R149L	DMD_ENST00000288447.4_Missense_Mutation_p.R141L|DMD_ENST00000378677.2_Missense_Mutation_p.R145L	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	149	Actin-binding.|CH 2.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGGATAATTACGAGTTGATTG	0.408000													38	14					6.05902e-23	1.13197e-22	0.003755	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84442319	84442319	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:84442319G>A	ENST00000286744.5	+	4	458	c.234G>A	c.(232-234)tgG>tgA	p.W78*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.W78*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	78	TSP type-1 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATGGCAACTGGGATGCTTGGG	0.458000													17	22					0	0	0.007413	0	0
RNF20	56254	broad.mit.edu	37	9	104317070	104317070	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:104317070G>A	ENST00000389120.3	+	15	2204	c.2114G>A	c.(2113-2115)cGg>cAg	p.R705Q		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	705					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AGGAAGATCCGGGCAGTGGAG	0.408000													8	13					0	0	0.006214	0	0
TEAD4	7004	broad.mit.edu	37	12	3104151	3104151	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:3104151G>T	ENST00000359864.2	+	3	409	c.219G>T	c.(217-219)aaG>aaT	p.K73N	TEAD4_ENST00000397122.2_Intron|TEAD4_ENST00000358409.2_Missense_Mutation_p.K73N	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	TEA domain family member 4	73					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			ACGAGGGCAAGATGTATGGTA	0.627000													50	5					1.89013e-27	3.75378e-27	0.003610	1	0
PRDM9	56979	broad.mit.edu	37	5	23526699	23526699	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:23526699G>T	ENST00000296682.3	+	11	1684	c.1502G>T	c.(1501-1503)gGc>gTc	p.G501V		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	501					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCCAGAACAGGCCAGAAAGTG	0.458000										HNSCC(3;0.000094)			15	14					7.93312e-07	9.52512e-07	0.002450	1	0
OR2L13	284521	broad.mit.edu	37	1	248262901	248262901	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:248262901C>A	ENST00000366478.2	+	3	561	c.224C>A	c.(223-225)aCc>aAc	p.T75N	OR2L13_ENST00000358120.2_Missense_Mutation_p.T75N	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	75					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)			TACATCTCCACCACCGTCCCC	0.542000													87	19					5.14759e-42	1.10261e-41	0.003610	1	0
SZT2	23334	broad.mit.edu	37	1	43891740	43891740	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:43891740T>A	ENST00000562955.1	+	21	2961	c.2961T>A	c.(2959-2961)caT>caA	p.H987Q	SZT2_ENST00000372442.1_Missense_Mutation_p.H145Q	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	987						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						CCTGCGTCCATGAGATCCCTT	0.552000													16	2					0	0	0.004990	0	0
THNSL1	79896	broad.mit.edu	37	10	25313812	25313812	+	Nonsense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:25313812A>T	ENST00000524413.1	+	3	2007	c.1660A>T	c.(1660-1662)Aga>Tga	p.R554*	THNSL1_ENST00000376356.4_Nonsense_Mutation_p.R554*			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	554					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	TCTAAGGGAAAGAAAACTAGC	0.343000													10	26					0	0	0.006214	0	0
FRMD7	90167	broad.mit.edu	37	X	131212529	131212529	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:131212529G>T	ENST00000298542.4	-	12	1691	c.1516C>A	c.(1516-1518)Ccc>Acc	p.P506T	FRMD7_ENST00000464296.1_Missense_Mutation_p.P491T|FRMD7_ENST00000370879.1_Missense_Mutation_p.P386T	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	506					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GACCATCTGGGCACCTGGGGT	0.493000													66	169					9.61844e-40	2.05097e-39	0.003610	1	0
PTPRD	5789	broad.mit.edu	37	9	8507430	8507430	+	Silent	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:8507430T>C	ENST00000381196.4	-	19	2091	c.1548A>G	c.(1546-1548)ccA>ccG	p.P516P	PTPRD_ENST00000397606.3_Silent_p.P506P|PTPRD_ENST00000397611.3_Silent_p.P513P|PTPRD_ENST00000397617.3_Silent_p.P506P|PTPRD_ENST00000540109.1_Silent_p.P516P|PTPRD_ENST00000537002.1_Silent_p.P513P|PTPRD_ENST00000358503.5_Silent_p.P503P|PTPRD_ENST00000360074.4_Silent_p.P503P|PTPRD_ENST00000486161.1_Silent_p.P516P|PTPRD_ENST00000356435.5_Silent_p.P516P|PTPRD_ENST00000355233.5_Silent_p.P516P	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	516	Fibronectin type-III 3.				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)		GTGGCTGCCCTGGTACTAAAA	0.433000										TSP Lung(15;0.13)			29	33					0	0	0.008361	0	0
MRRF	92399	broad.mit.edu	37	9	125075536	125075536	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:125075536G>T	ENST00000344641.3	+	6	893	c.582G>T	c.(580-582)gtG>gtT	p.V194V	MRRF_ENST00000297908.3_Silent_p.V142V|MRRF_ENST00000373723.4_Intron|MRRF_ENST00000394315.3_Intron|MRRF_ENST00000373729.1_Silent_p.V150V	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor	194					ribosome disassembly|translation	mitochondrion	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						AAATGCTGGTGAAACTGGCCA	0.403000													11	11					5.16669e-11	7.22521e-11	0.000978	1	0
SPG11	80208	broad.mit.edu	37	15	44876469	44876469	+	Silent	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:44876469C>G	ENST00000261866.7	-	30	5425	c.5409G>C	c.(5407-5409)ctG>ctC	p.L1803L	SPG11_ENST00000558319.1_Silent_p.L1803L|SPG11_ENST00000535302.2_Silent_p.L1803L|SPG11_ENST00000427534.2_Silent_p.L1803L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1803					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TGATGCGGCACAGCCAGATCT	0.542000													17	20					0	0	0.004990	0	0
BRD3	8019	broad.mit.edu	37	9	136915621	136915621	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:136915621C>A	ENST00000303407.7	-	5	774	c.589G>T	c.(589-591)Gct>Tct	p.A197S	BRD3_ENST00000371834.2_Missense_Mutation_p.A197S|BRD3_ENST00000357885.2_Missense_Mutation_p.A197S	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	197						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GGGGTGGCAGCGATGACGGGC	0.657000			T	C15orf55	lethal midline carcinoma of young people								35	41					4.11147e-13	6.13692e-13	0.003755	1	0
CPXCR1	53336	broad.mit.edu	37	X	88008905	88008905	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:88008905G>T	ENST00000276127.4	+	3	749	c.490G>T	c.(490-492)Gct>Tct	p.A164S	CPXCR1_ENST00000373111.1_Missense_Mutation_p.A164S	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	164						intracellular	zinc ion binding	p.A164S(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TTTCTCTCAGGCTGCAGGGTG	0.388000													16	32					1.33834e-09	1.76045e-09	0.007413	1	0
TSGA13	114960	broad.mit.edu	37	7	130353886	130353886	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:130353886A>T	ENST00000456951.1	-	9	1647	c.796T>A	c.(796-798)Tgg>Agg	p.W266R	TSGA13_ENST00000356588.3_Missense_Mutation_p.W266R			Q96PP4	TSG13_HUMAN	testis specific, 13	266										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TTGATAATCCACTGCGGGGCC	0.622000													86	101					0	0	0.003610	0	0
GLDC	2731	broad.mit.edu	37	9	6556225	6556225	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:6556225G>C	ENST00000321612.6	-	18	2280	c.2130C>G	c.(2128-2130)atC>atG	p.I710M		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	710					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	ACACGTCACTGATGTTCTCTT	0.488000													14	26					0	0	0.003163	0	0
GRM1	2911	broad.mit.edu	37	6	146351269	146351269	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:146351269C>A	ENST00000392299.2	+	2	1086	c.616C>A	c.(616-618)Cct>Act	p.P206T	GRM1_ENST00000492807.2_Missense_Mutation_p.P206T|GRM1_ENST00000361719.2_Missense_Mutation_p.P206T|GRM1_ENST00000282753.1_Missense_Mutation_p.P206T|GRM1_ENST00000507907.1_Missense_Mutation_p.P206T|GRM1_ENST00000355289.4_Missense_Mutation_p.P206T			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	206					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)	GAGGGTTGTCCCTTCTGACAC	0.478000													33	5					1.45844e-13	2.19773e-13	0.002836	1	0
HRNR	388697	broad.mit.edu	37	1	152192465	152192465	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:152192465C>T	ENST00000368801.2	-	3	1715	c.1640G>A	c.(1639-1641)cGa>cAa	p.R547Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	547					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)			AGACTCATGTCGGCCACGGCT	0.592000													115	110					0	0	0.003610	0	0
EPHA2	1969	broad.mit.edu	37	1	16455969	16455969	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:16455969C>A	ENST00000358432.5	-	16	2939	c.2785G>T	c.(2785-2787)Ggc>Tgc	p.G929C		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	929	Negatively regulates interaction with ARHGEF16.|SAM.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GCAGTGTAGCCGGCCGCCATG	0.652000													29	7					7.26314e-15	1.12559e-14	0.007291	1	0
KCNH5	27133	broad.mit.edu	37	14	63447595	63447595	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:63447595C>G	ENST00000322893.7	-	6	1205	c.937G>C	c.(937-939)Gat>Cat	p.D313H	KCNH5_ENST00000394968.1_Missense_Mutation_p.D255H|KCNH5_ENST00000420622.2_Missense_Mutation_p.D313H|KCNH5_ENST00000394964.2_Missense_Mutation_p.D255H	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	313					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)		CTTACCTCATCCACATTTTCA	0.358000													20	2					0	0	0.002299	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890725	23890725	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:23890725C>A	ENST00000532292.1	-	1	450	c.356G>T	c.(355-357)aGg>aTg	p.R119M		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AGAAGAGGCCCTGCATTCTCC	0.602000													6	12					0.000157383	0.000174215	0.003080	1	0
TOMM40	10452	broad.mit.edu	37	19	45395673	45395673	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:45395673G>C	ENST00000592434.1	+	3	391	c.298G>C	c.(298-300)Ggt>Cgt	p.G100R	TOMM40_ENST00000426677.2_Missense_Mutation_p.G100R|TOMM40_ENST00000405636.2_Missense_Mutation_p.G100R|TOMM40_ENST00000252487.5_Missense_Mutation_p.G100R			O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	100					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)		TCAGATGGAGGGTGTCAAGCT	0.552000													44	62					0	0	0.008740	0	0
JUP	3728	broad.mit.edu	37	17	39913690	39913690	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:39913690G>T	ENST00000393931.3	-	12	2141	c.2023C>A	c.(2023-2025)Cat>Aat	p.H675N	JUP_ENST00000393930.1_Missense_Mutation_p.H675N|JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Missense_Mutation_p.H675N	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	675					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCCGGGTCATGCTTGAAGAGG	0.592000													46	37					2.77807e-22	5.14942e-22	0.003214	1	0
GRIN2A	2903	broad.mit.edu	37	16	9943701	9943701	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:9943701C>T	ENST00000396573.2	-	6	1549	c.1240G>A	c.(1240-1242)Gcc>Acc	p.A414T	GRIN2A_ENST00000404927.2_Missense_Mutation_p.A414T|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A414T|GRIN2A_ENST00000535259.1_Missense_Mutation_p.A257T|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A414T|GRIN2A_ENST00000562109.1_Missense_Mutation_p.A414T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	414					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)	ACGAATGGGGCCTCCTCCAGG	0.582000													6	52					0	0	0.001168	0	0
DROSHA	29102	broad.mit.edu	37	5	31526703	31526703	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:31526703C>A	ENST00000511367.2	-	4	581	c.337G>T	c.(337-339)Gtt>Ttt	p.V113F	DROSHA_ENST00000344624.3_Missense_Mutation_p.V113F|DROSHA_ENST00000513349.1_Missense_Mutation_p.V113F|DROSHA_ENST00000442743.1_Missense_Mutation_p.V113F	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	113	Pro-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CAAGGAGGAACTGGGAAGGGG	0.612000													11	23					6.40141e-05	7.16433e-05	0.000978	1	0
CRHBP	1393	broad.mit.edu	37	5	76251618	76251618	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:76251618G>T	ENST00000274368.4	+	4	896	c.474G>T	c.(472-474)atG>atT	p.M158I	CRHBP_ENST00000506501.1_Missense_Mutation_p.M158I	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	158					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		ATGTGGCCATGATCTTCTTCC	0.473000													21	8					6.33239e-15	9.85656e-15	0.010504	1	0
PCLO	27445	broad.mit.edu	37	7	82387928	82387928	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:82387928C>A	ENST00000333891.8	-	25	15729	c.15392G>T	c.(15391-15393)tGg>tTg	p.W5131L		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	5054					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						AAGTTTGTGCCAGTTGACTAT	0.393000													54	163					1.4374e-25	2.77688e-25	0.003610	1	0
GPR139	124274	broad.mit.edu	37	16	20043302	20043302	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:20043302G>T	ENST00000570682.1	-	2	1117	c.817C>A	c.(817-819)Cta>Ata	p.L273I		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	273						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						AGAAGGGCTAGCATGTTGGCA	0.547000													27	37					2.27525e-19	4.00784e-19	0.003954	1	0
NPAP1	23742	broad.mit.edu	37	15	24922352	24922352	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:24922352C>T	ENST00000329468.2	+	1	1812	c.1338C>T	c.(1336-1338)acC>acT	p.T446T		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CACTTTCCACCACACCAAAAA	0.502000													24	42					0	0	0.002780	0	0
OR9G1	390174	broad.mit.edu	37	11	56468109	56468109	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:56468109G>A	ENST00000312153.1	+	1	246	c.246G>A	c.(244-246)gtG>gtA	p.V82V		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						AGATCCTAGTGACCTGCATCT	0.488000													20	111					0	0	0.003330	0	0
C2orf61	285051	broad.mit.edu	37	2	47382370	47382370	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:47382370G>A	ENST00000294947.2	-	1	56	c.21C>T	c.(19-21)gcC>gcT	p.A7A	C2orf61_ENST00000445927.2_Silent_p.A7A|CALM2_ENST00000422269.1_Intron	NM_173649.2	NP_775920.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	7								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TGGAAGCGGTGGCGACGGCTG	0.647000													9	16					0	0	0.008291	0	0
NRCAM	4897	broad.mit.edu	37	7	107872866	107872866	+	Nonsense_Mutation	SNP	C	C	A	rs140770274	byFrequency	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:107872866C>A	ENST00000379028.3	-	7	801	c.331G>T	c.(331-333)Gaa>Taa	p.E111*	NRCAM_ENST00000425651.2_Nonsense_Mutation_p.E111*|NRCAM_ENST00000379022.4_Nonsense_Mutation_p.E111*|NRCAM_ENST00000351718.4_Nonsense_Mutation_p.E105*|NRCAM_ENST00000379024.4_Nonsense_Mutation_p.E111*|NRCAM_ENST00000413765.2_Nonsense_Mutation_p.E111*			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	111	Ig-like 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						GCTTTCCCTTCGCTCATGATG	0.473000													37	86					2.05212e-20	3.68809e-20	0.005524	1	0
FMR1	2332	broad.mit.edu	37	X	147011491	147011491	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:147011491G>T	ENST00000218200.8	+	6	673	c.444G>T	c.(442-444)aaG>aaT	p.K148N	FMR1_ENST00000370470.1_Missense_Mutation_p.K148N|FMR1_ENST00000370471.3_Missense_Mutation_p.K148N|FMR1_ENST00000439526.2_Missense_Mutation_p.K148N|FMR1_ENST00000370477.1_Missense_Mutation_p.K148N|FMR1_ENST00000334557.6_Missense_Mutation_p.K148N|FMR1_ENST00000370475.4_Missense_Mutation_p.K148N	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	148					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					CGGCACATAAGGATTTTAAAA	0.313000									Fragile X syndrome				33	20					1.22384e-17	2.07336e-17	0.002836	1	0
OR10X1	128367	broad.mit.edu	37	1	158548787	158548787	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:158548787G>A	ENST00000368150.1	-	1	902	c.903C>T	c.(901-903)atC>atT	p.I301I		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I301I(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GGCTGAATATGATGGGGCTGA	0.408000													60	53					0	0	0.003610	0	0
PCDH15	65217	broad.mit.edu	37	10	55566681	55566681	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:55566681G>A	ENST00000373965.2	-	36	5107	c.4713C>T	c.(4711-4713)tcC>tcT	p.S1571S	PCDH15_ENST00000414778.1_Silent_p.S1568S	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	422					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	p.S1568S(1)		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)				GTCGAACAGGGGAAGCAACTT	0.458000										HNSCC(58;0.16)			69	47					0	0	0.003610	0	0
OR5D14	219436	broad.mit.edu	37	11	55563061	55563061	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:55563061G>T	ENST00000335605.1	+	1	30	c.30G>T	c.(28-30)atG>atT	p.M10I		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ATCTGAGCATGGAGCCCACCT	0.398000													42	45					1.52319e-26	2.97914e-26	0.008740	1	0
TBC1D17	79735	broad.mit.edu	37	19	50384576	50384576	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:50384576G>T	ENST00000221543.5	+	5	670	c.371G>T	c.(370-372)gGg>gTg	p.G124V	TBC1D17_ENST00000535102.2_Missense_Mutation_p.G91V|TBC1D17_ENST00000598789.1_3'UTR	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	124						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GTGAGTCTGGGGGAGCTAAAG	0.657000													15	23					4.93089e-13	7.35226e-13	0.002450	1	0
MICAL2	9645	broad.mit.edu	37	11	12278459	12278459	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:12278459G>T	ENST00000256194.4	+	24	3371	c.3083G>T	c.(3082-3084)cGc>cTc	p.R1028L	MICAL2_ENST00000537344.1_Missense_Mutation_p.R838L|MICAL2_ENST00000379612.3_Missense_Mutation_p.R802L|MICAL2_ENST00000527546.1_Missense_Mutation_p.R838L|MICAL2_ENST00000342902.5_Missense_Mutation_p.R1007L	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1028	LIM zinc-binding.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GAGTGTTTCCGCTGCAGCATC	0.612000													30	26					2.08457e-15	3.29534e-15	0.002096	1	0
ZBTB41	360023	broad.mit.edu	37	1	197128671	197128671	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:197128671G>A	ENST00000367405.4	-	10	2616	c.2548C>T	c.(2548-2550)Cga>Tga	p.R850*	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	850					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TCCGCTGCTCGTGGATAATCA	0.458000													32	61					0	0	0.003271	0	0
NPHS2	7827	broad.mit.edu	37	1	179520369	179520369	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:179520369G>T	ENST00000367615.4	-	8	1159	c.1091C>A	c.(1090-1092)cCa>cAa	p.P364Q	NPHS2_ENST00000367616.4_Missense_Mutation_p.P296Q|AXDND1_ENST00000367618.3_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	364					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GGAAGGACTTGGGAAGGGGAG	0.483000													24	54					6.21321e-17	1.03045e-16	0.002780	1	0
FMR1	2332	broad.mit.edu	37	X	147026524	147026524	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:147026524G>T	ENST00000218200.8	+	14	1773	c.1544G>T	c.(1543-1545)gGg>gTg	p.G515V	FMR1_ENST00000370470.1_Missense_Mutation_p.G511V|FMR1_ENST00000370471.3_Missense_Mutation_p.G446W|FMR1_ENST00000439526.2_Missense_Mutation_p.G513V|FMR1_ENST00000370477.1_Missense_Mutation_p.G503V|FMR1_ENST00000370475.4_Missense_Mutation_p.G536V|FMR1_ENST00000440235.2_Missense_Mutation_p.G183V	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	536	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					CGGCGTggagggggaggaaga	0.512000									Fragile X syndrome				24	7					1.96895e-08	2.49952e-08	0.002780	1	0
GOLGA8B	440270	broad.mit.edu	37	15	34825090	34825090	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:34825090C>T	ENST00000267731.7	-	12	1507	c.242G>A	c.(241-243)aGg>aAg	p.R81K	GOLGA8A_ENST00000543376.1_Intron|GOLGA8B_ENST00000342314.5_Missense_Mutation_p.R81K|GOLGA8B_ENST00000438958.2_Missense_Mutation_p.R111K			A8MQT2	GOG8B_HUMAN	golgin A8 family, member B	81						Golgi cisterna membrane				endometrium(1)	1		all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TTTTATGGACCTCGAGTTCAG	0.557000													18	91					0	0	0.001882	0	0
TTLL2	83887	broad.mit.edu	37	6	167754962	167754962	+	Missense_Mutation	SNP	C	C	T	rs149385170		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:167754962C>T	ENST00000239587.5	+	3	1662	c.1574C>T	c.(1573-1575)gCg>gTg	p.A525V		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	525					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ATGCCCTACGCGTCCCTCTTC	0.552000													37	6					0	0	0.004289	0	0
NEK10	152110	broad.mit.edu	37	3	27216141	27216141	+	Splice_Site	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:27216141C>A	ENST00000429845.2	-	28	3051	c.2689_splice	c.e28+1	p.D897_splice	NEK10_ENST00000295720.6_Splice_Site_p.D209_splice|NEK10_ENST00000383770.3_Splice_Site_p.D209_splice|NEK10_ENST00000357467.2_Splice_Site_p.D294_splice|NEK10_ENST00000383771.4_Splice_Site_p.D209_splice|NEK10_ENST00000498182.1_5'UTR			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	897							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						CTAGCAGTACCTTTCTCAGCA	0.478000													50	10					7.34454e-26	1.4247e-25	0.003610	1	0
SCG2	7857	broad.mit.edu	37	2	224463757	224463757	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:224463757G>C	ENST00000305409.2	-	2	476	c.244C>G	c.(244-246)Caa>Gaa	p.Q82E		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	82					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)		GAGACACCTTGGTAGGGATTA	0.448000													70	10					0	0	0.003610	0	0
HTR3A	3359	broad.mit.edu	37	11	113857766	113857766	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:113857766C>T	ENST00000504030.2	+	8	1581	c.1136C>T	c.(1135-1137)tCa>tTa	p.S379L	HTR3A_ENST00000355556.2_Missense_Mutation_p.S417L|HTR3A_ENST00000375498.2_Missense_Mutation_p.S385L|HTR3A_ENST00000506841.2_Missense_Mutation_p.S411L|HTR3A_ENST00000535865.1_Missense_Mutation_p.S123L|HTR3A_ENST00000299961.5_Missense_Mutation_p.S364L			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	379					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GATGACTGCTCAGGTGAGAAA	0.577000													8	21					0	0	0.006214	0	0
TEX26	122046	broad.mit.edu	37	13	31506870	31506870	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:31506870C>A	ENST00000380473.3	+	1	31	c.18C>A	c.(16-18)ccC>ccA	p.P6P	TEX26-AS1_ENST00000587596.1_RNA|TEX26-AS1_ENST00000591300.1_RNA|TEX26-AS1_ENST00000591131.1_RNA	NM_152325.1	NP_689538.1	Q8N6G2	CM026_HUMAN	testis expressed 26	6																	AGCCTGGGCCCAGGGCTCCGG	0.687000													8	16					1.12685e-05	1.29803e-05	0.004482	1	0
GABRG1	2565	broad.mit.edu	37	4	46066481	46066481	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:46066481G>T	ENST00000295452.4	-	5	769	c.602C>A	c.(601-603)tCc>tAc	p.S201Y		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	201					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CAGTGGACAGGAATGTTCATC	0.269000													22	11					1.85244e-09	2.43219e-09	0.003330	1	0
AOAH	313	broad.mit.edu	37	7	36655997	36655997	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:36655997G>T	ENST00000431169.1	-	11	1135	c.835C>A	c.(835-837)Cag>Aag	p.Q279K	AOAH_ENST00000258749.5_Missense_Mutation_p.Q279K|AOAH_ENST00000535891.1_Missense_Mutation_p.Q247K	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	279					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						AAAGACATCTGCGACGCTGTG	0.463000													11	17					0.00829132	0.00872188	0.008291	1	0
NTNG1	22854	broad.mit.edu	37	1	107691317	107691317	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:107691317G>A	ENST00000370067.1	+	2	729	c.102G>A	c.(100-102)aaG>aaA	p.K34K	NTNG1_ENST00000370061.3_Silent_p.K34K|NTNG1_ENST00000370066.1_Silent_p.K34K|NTNG1_ENST00000370068.1_Silent_p.K34K|NTNG1_ENST00000370072.3_Silent_p.K34K|NTNG1_ENST00000370070.2_Silent_p.K34K|NTNG1_ENST00000370071.2_Silent_p.K34K|NTNG1_ENST00000370073.2_Silent_p.K34K|NTNG1_ENST00000370074.4_Silent_p.K34K|NTNG1_ENST00000370065.1_Silent_p.K34K|NTNG1_ENST00000542803.1_Silent_p.K34K			Q9Y2I2	NTNG1_HUMAN	netrin G1	34					axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ATTTGTGTAAGACTCAGATTT	0.458000													42	13					0	0	0.002522	0	0
SERPINB7	8710	broad.mit.edu	37	18	61459672	61459672	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:61459672A>G	ENST00000398019.2	+	3	539	c.214A>G	c.(214-216)Agt>Ggt	p.S72G	SERPINB7_ENST00000336429.2_Missense_Mutation_p.S72G|SERPINB7_ENST00000546027.1_Missense_Mutation_p.S72G|SERPINB7_ENST00000540675.1_Intron	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	72					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CTCTTCTAATAGTCAGGTAAA	0.438000													23	13					0	0	0.002780	0	0
MED12L	116931	broad.mit.edu	37	3	151148145	151148145	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:151148145G>T	ENST00000474524.1	+	42	6400	c.6362G>T	c.(6361-6363)cGg>cTg	p.R2121L	MED12L_ENST00000273432.4_Missense_Mutation_p.R1785L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2121	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCCTTGGTGCGGCAGCTCCAG	0.537000													60	7					1.72039e-30	3.495e-30	0.003610	1	0
SMARCA1	6594	broad.mit.edu	37	X	128624153	128624153	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:128624153A>C	ENST00000371122.4	-	15	1961	c.1832T>G	c.(1831-1833)aTt>aGt	p.I611S	SMARCA1_ENST00000371121.3_Missense_Mutation_p.I599S|SMARCA1_ENST00000371123.1_Missense_Mutation_p.I599S	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	611	Helicase C-terminal.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CTTCTGACCAATACGATGTGC	0.353000													40	15					0	0	0.006999	0	0
ZMYND8	23613	broad.mit.edu	37	20	45853081	45853081	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:45853081C>A	ENST00000311275.7	-	19	3338	c.3085G>T	c.(3085-3087)Gcc>Tcc	p.A1029S	ZMYND8_ENST00000471951.2_Missense_Mutation_p.A1049S|ZMYND8_ENST00000396281.4_Missense_Mutation_p.A1029S|ZMYND8_ENST00000458360.2_Missense_Mutation_p.A897S|ZMYND8_ENST00000536340.1_Missense_Mutation_p.A1056S|ZMYND8_ENST00000360911.3_Missense_Mutation_p.A978S|ZMYND8_ENST00000355972.4_Missense_Mutation_p.A1029S|ZMYND8_ENST00000540497.1_Missense_Mutation_p.A977S|ZMYND8_ENST00000352431.2_Missense_Mutation_p.A1003S|ZMYND8_ENST00000461685.1_Missense_Mutation_p.A1003S|ZMYND8_ENST00000372023.3_Missense_Mutation_p.A951S|ZMYND8_ENST00000262975.4_Missense_Mutation_p.A983S|ZMYND8_ENST00000446994.2_Missense_Mutation_p.A920S			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1029							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TTGCAGTTGGCGCACCACTGC	0.582000													28	92					4.14481e-20	7.40219e-20	0.006230	1	0
TRHR	7201	broad.mit.edu	37	8	110131617	110131617	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:110131617T>A	ENST00000518632.1	+	3	1481	c.1130T>A	c.(1129-1131)cTg>cAg	p.L377Q	TRHR_ENST00000311762.2_Missense_Mutation_p.L377Q			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	377						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)			GACACTTACCTGTCTGCCACA	0.418000													41	29					0	0	0.006999	0	0
OR10A5	144124	broad.mit.edu	37	11	6867387	6867387	+	Silent	SNP	T	T	A	rs142555747		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:6867387T>A	ENST00000299454.4	+	1	505	c.474T>A	c.(472-474)acT>acA	p.T158T	OR10A5_ENST00000379831.2_Silent_p.T162T			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T158T(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTGTAGCTACTGTGCAGACCA	0.547000													39	64					0	0	0.008740	0	0
CRLF1	9244	broad.mit.edu	37	19	18704380	18704380	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:18704380C>G	ENST00000392386.3	-	9	1458	c.1265G>C	c.(1264-1266)aGa>aCa	p.R422T	CRLF1_ENST00000594325.1_Intron	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	422					negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						TACAGCTTATCTGGCAGGACC	0.627000													6	6					0	0	0.003080	0	0
ITM2A	9452	broad.mit.edu	37	X	78622629	78622629	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:78622629C>T	ENST00000434584.2	-	1	420	c.84G>A	c.(82-84)acG>acA	p.T28T	ITM2A_ENST00000373298.2_Silent_p.T28T	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	28						integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						GAGTTCTGACCGTGCGGCTCA	0.587000													6	10					0	0	0.001168	0	0
TRPV2	51393	broad.mit.edu	37	17	16325967	16325967	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:16325967G>A	ENST00000338560.7	+	4	788	c.389G>A	c.(388-390)gGa>gAa	p.G130E	TRPV2_ENST00000577397.1_5'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	130	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTTAAGGACGGAGTCAATGCC	0.572000													8	4					0	0	0.004482	0	0
ZNF676	163223	broad.mit.edu	37	19	22363598	22363598	+	Silent	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:22363598T>C	ENST00000397121.2	-	3	1238	c.921A>G	c.(919-921)aaA>aaG	p.K307K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ACTTGTAGGGTTTCTCTCCAG	0.438000													3	70					0	0	0.008291	0	0
NPAS4	266743	broad.mit.edu	37	11	66192356	66192356	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:66192356G>A	ENST00000311034.2	+	7	2171	c.1995G>A	c.(1993-1995)ctG>ctA	p.L665L		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	665					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						TTGGAGGACTGGAGCCCCTGG	0.612000													104	88					0	0	0.003610	0	0
NEUROG1	4762	broad.mit.edu	37	5	134870935	134870935	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:134870935C>G	ENST00000314744.4	-	1	704	c.446G>C	c.(445-447)cGc>cCc	p.R149P		NM_006161.2	NP_006152.2	Q92886	NGN1_HUMAN	neurogenin 1	149					positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	nucleus	chromatin binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			endometrium(1)|liver(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATCCGCCAGGCGCAGTGTCTC	0.706000													3	5					0	0	0.004672	0	0
SCN2A	6326	broad.mit.edu	37	2	166179881	166179881	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:166179881C>A	ENST00000375437.2	+	12	2177	c.1887C>A	c.(1885-1887)agC>agA	p.S629R	SCN2A_ENST00000283256.6_Missense_Mutation_p.S629R|SCN2A_ENST00000375427.2_Missense_Mutation_p.S629R|SCN2A_ENST00000357398.3_Missense_Mutation_p.S629R	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	629					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GCCAGGCCAGCCGTGCCTCCA	0.602000													22	9					6.33239e-15	9.85656e-15	0.010504	1	0
SSH2	85464	broad.mit.edu	37	17	27958261	27958261	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:27958261C>G	ENST00000269033.3	-	15	4021	c.3870G>C	c.(3868-3870)caG>caC	p.Q1290H	SSH2_ENST00000540801.1_Missense_Mutation_p.Q1317H|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1290					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGAGGAAAGGCTGAAGCAGTT	0.537000													39	39					0	0	0.004878	0	0
CCL28	56477	broad.mit.edu	37	5	43381982	43381982	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:43381982C>A	ENST00000361115.4	-	3	438	c.364G>T	c.(364-366)Ggc>Tgc	p.G122C	CCL28_ENST00000513525.1_Missense_Mutation_p.G75C	NM_148672.2	NP_683513.1	Q9NRJ3	CCL28_HUMAN	chemokine (C-C motif) ligand 28	122					chemotaxis|immune response	extracellular space	chemokine activity	p.G122S(1)		kidney(3)|lung(3)|ovary(1)	7						GTTTTATGGCCGTATGTTTCG	0.413000													46	87					6.9144e-35	1.45039e-34	0.003610	1	0
CXADRP3	440224	broad.mit.edu	37	18	14478135	14478135	+	RNA	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:14478135C>A	ENST00000581457.1	-	0	1773					NR_024076.1																						AGGAAAGGAACACGGAAAGCA	0.393000													5	6					0.000602214	0.000646435	0.000602	1	0
ZFP64	55734	broad.mit.edu	37	20	50803371	50803371	+	Splice_Site	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:50803371C>A	ENST00000216923.4	-	2	635	c.286_splice	c.e2+1	p.V96_splice	ZFP64_ENST00000346617.4_Splice_Site_p.G96_splice|ZFP64_ENST00000371518.2_Splice_Site_p.V96_splice|ZFP64_ENST00000371515.4_Splice_Site_p.V94_splice|ZFP64_ENST00000361387.2_Splice_Site_p.V96_splice	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CCAGCTGTACCTGTGATTGTC	0.557000													19	26					1.33834e-09	1.76045e-09	0.007413	1	0
DSN1	79980	broad.mit.edu	37	20	35386978	35386978	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:35386978C>T	ENST00000426836.1	-	7	1005	c.633G>A	c.(631-633)atG>atA	p.M211I	DSN1_ENST00000448110.1_Missense_Mutation_p.M195I|DSN1_ENST00000373734.4_Missense_Mutation_p.M104I|DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373740.3_Missense_Mutation_p.M139I|DSN1_ENST00000373745.3_Missense_Mutation_p.M211I|DSN1_ENST00000373750.4_Missense_Mutation_p.M211I	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	211					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				TGTATTCCTTCATCTCAGCCA	0.303000													15	13					0	0	0.004007	0	0
FAM221A	340277	broad.mit.edu	37	7	23737895	23737895	+	Missense_Mutation	SNP	C	C	T	rs146231988		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:23737895C>T	ENST00000344962.4	+	5	811	c.722C>T	c.(721-723)tCt>tTt	p.S241F	FAM221A_ENST00000409653.1_Missense_Mutation_p.S183F|FAM221A_ENST00000409192.3_Intron|FAM221A_ENST00000409994.3_Intron	NM_199136.3	NP_954587.2	A4D161	CG046_HUMAN	family with sequence similarity 221, member A	241																	TCATCTAGTTCTTCTCCAGAA	0.358000													27	30					0	0	0.002096	0	0
SDR42E1	93517	broad.mit.edu	37	16	82034396	82034396	+	Splice_Site	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:82034396C>A	ENST00000328945.5	-	2	195	c.68_splice	c.e2+1	p.R23_splice	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	23					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						ATACACTTACCGAAAACCAAA	0.383000													9	13					3.09899e-07	3.78172e-07	0.004482	1	0
CLC	1178	broad.mit.edu	37	19	40224969	40224969	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:40224969C>T	ENST00000221804.4	-	3	332	c.257G>A	c.(256-258)gGc>gAc	p.G86D		NM_001828.5	NP_001819.2	Q05315	LPPL_HUMAN	Charcot-Leyden crystal galectin	86	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding	p.G86D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		AAATTCTTGGCCATCCTGAAA	0.547000													36	71					0	0	0.004289	0	0
LHFPL3	375612	broad.mit.edu	37	7	103969335	103969335	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:103969335C>T	ENST00000535008.1	+	1	232	c.108C>T	c.(106-108)atC>atT	p.I36I	LHFPL3_ENST00000543266.1_Silent_p.I36I|LHFPL3_ENST00000424859.1_Silent_p.I22I|LHFPL3_ENST00000401970.2_Silent_p.I22I			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	22						integral to membrane		p.I36I(1)		kidney(1)|large_intestine(2)|lung(6)	9						CGCGGGCCATCGGCGTGCTGT	0.672000													10	29					0	0	0.000978	0	0
TBK1	29110	broad.mit.edu	37	12	64860683	64860683	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:64860683G>T	ENST00000331710.5	+	5	700	c.361G>T	c.(361-363)Ggt>Tgt	p.G121C		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	121	Protein kinase.				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		TGTTGAAGTGGGTGGAATGAA	0.358000													28	8					7.01153e-11	9.72833e-11	0.007291	1	0
TMED3	23423	broad.mit.edu	37	15	79614395	79614395	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:79614395G>T	ENST00000299705.5	+	3	681	c.493G>T	c.(493-495)Gag>Tag	p.E165*	TMED3_ENST00000536821.1_Intron|TMED3_ENST00000424155.2_Intron|TMED3_ENST00000558562.1_3'UTR	NM_007364.2	NP_031390.1	Q9Y3Q3	TMED3_HUMAN	transmembrane emp24 protein transport domain containing 3	165					protein transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane				large_intestine(3)|lung(4)|ovary(1)|skin(1)	9						CCGGCTGCGGGAGGCCCAGGA	0.577000													19	35					6.94344e-10	9.24488e-10	0.006122	1	0
ZSCAN4	201516	broad.mit.edu	37	19	58190161	58190161	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:58190161C>A	ENST00000318203.5	+	5	1887	c.1190C>A	c.(1189-1191)aCa>aAa	p.T397K		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	397					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGCCTTATACATGTCCCTTT	0.473000													94	84					2.68873e-43	5.7767e-43	0.003610	1	0
ZNF676	163223	broad.mit.edu	37	19	22363718	22363718	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:22363718G>T	ENST00000397121.2	-	3	1118	c.801C>A	c.(799-801)acC>acA	p.T267T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GTGTATTAAGGGTTGAGACGC	0.388000													24	39					1.64293e-13	2.46788e-13	0.003330	1	0
ZAN	7455	broad.mit.edu	37	7	100355875	100355875	+	RNA	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:100355875G>T	ENST00000542585.1	+	0	3508				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_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)			GCCGCTGCTGGCCCGGCAGTC	0.582000													9	21					5.68852e-11	7.93149e-11	0.004482	1	0
ZIC1	7545	broad.mit.edu	37	3	147128676	147128676	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:147128676G>T	ENST00000282928.4	+	1	1506	c.777G>T	c.(775-777)gaG>gaT	p.E259D		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	259					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TCACCGTGGAGCACGTAGGTG	0.552000													66	5					3.13296e-38	6.65051e-38	0.003610	1	0
CCR5	1234	broad.mit.edu	37	3	46414426	46414426	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:46414426C>T	ENST00000343801.4	+	3	390	c.33C>T	c.(31-33)gaC>gaT	p.D11D	CCR5_ENST00000445772.1_Silent_p.D11D|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000292303.4_Silent_p.D11D	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	11					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)	CAATCTATGACATCAATTATT	0.408000													42	21					0	0	0.003610	0	0
ZNF521	25925	broad.mit.edu	37	18	22805247	22805247	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:22805247C>G	ENST00000361524.3	-	4	2783	c.2635G>C	c.(2635-2637)Gtt>Ctt	p.V879L	ZNF521_ENST00000538137.2_Missense_Mutation_p.V879L|ZNF521_ENST00000584787.1_Missense_Mutation_p.V659L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	879					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GAGGTGTCAACGTCTTCTTCG	0.537000			T	PAX5	ALL								32	15					0	0	0.009535	0	0
TRIOBP	11078	broad.mit.edu	37	22	38168672	38168672	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:38168672G>T	ENST00000406386.3	+	23	7256	c.7001G>T	c.(7000-7002)cGg>cTg	p.R2334L	RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000403663.2_Missense_Mutation_p.R621L	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2334					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)					ATCAAGACACGGTCTGAGCGG	0.607000													52	67					2.69774e-35	5.66726e-35	0.003610	1	0
NSUN2	54888	broad.mit.edu	37	5	6625754	6625754	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:6625754T>C	ENST00000264670.6	-	4	699	c.388A>G	c.(388-390)Aat>Gat	p.N130D	NSUN2_ENST00000506139.1_Missense_Mutation_p.N95D|NSUN2_ENST00000539938.1_5'UTR	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	130						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CGACTTAAATTTGTGTGCCAG	0.343000													13	17					0	0	0.001855	0	0
RELN	5649	broad.mit.edu	37	7	103193922	103193922	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:103193922T>C	ENST00000428762.1	-	40	6217	c.6058A>G	c.(6058-6060)Atc>Gtc	p.I2020V	RELN_ENST00000343529.5_Missense_Mutation_p.I2020V|RELN_ENST00000424685.2_Missense_Mutation_p.I2020V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2020					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)		AATTGTATGATGGTGTTCTCA	0.348000													7	32					0	0	0.004482	0	0
SFRP5	6425	broad.mit.edu	37	10	99531108	99531108	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:99531108G>A	ENST00000266066.3	-	1	601	c.483C>T	c.(481-483)ctC>ctT	p.L161L		NM_003015.3	NP_003006.2	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5	161	FZ.				apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception	cytoplasm|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			large_intestine(1)|lung(4)	5		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		CGGCGATGCAGAGGTCGTTGT	0.741000													7	6					0	0	0.001984	0	0
HIPK3	10114	broad.mit.edu	37	11	33358645	33358645	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:33358645G>T	ENST00000303296.4	+	4	1551	c.1246G>T	c.(1246-1248)Ggt>Tgt	p.G416C	HIPK3_ENST00000456517.1_Missense_Mutation_p.G416C|HIPK3_ENST00000525975.1_Missense_Mutation_p.G416C|HIPK3_ENST00000379016.3_Missense_Mutation_p.G416C|HIPK3_ENST00000534262.1_3'UTR	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	416	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TCAGACTCAAGGTTTGCCAGG	0.333000													9	18					1.58986e-06	1.89607e-06	0.008291	1	0
GPR50	9248	broad.mit.edu	37	X	150349445	150349445	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:150349445T>A	ENST00000218316.3	+	2	1459	c.1390T>A	c.(1390-1392)Tct>Act	p.S464T		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	464	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGCCTGACTCTGTTCATTT	0.547000													495	198					0	0	0.003610	0	0
C16orf62	57020	broad.mit.edu	37	16	19584460	19584460	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:19584460G>A	ENST00000438132.3	+	4	620	c.572G>A	c.(571-573)cGt>cAt	p.R191H	C16orf62_ENST00000251143.5_Missense_Mutation_p.R102H|C16orf62_ENST00000417362.2_Missense_Mutation_p.R102H|C16orf62_ENST00000538853.1_Missense_Mutation_p.R191H|C16orf62_ENST00000542263.1_Missense_Mutation_p.R191H	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	102						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						AGAAGGAAACGTGATAGAGAT	0.403000													32	38					0	0	0.002836	0	0
CSMD3	114788	broad.mit.edu	37	8	114185950	114185950	+	Splice_Site	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:114185950C>A	ENST00000297405.5	-	4	954		c.e4+1		CSMD3_ENST00000519485.1_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site|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						TTTCATTTTACCTCTACAGAT	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			35	13					2.42023e-17	4.05661e-17	0.003271	1	0
MYH3	4621	broad.mit.edu	37	17	10552923	10552923	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:10552923G>T	ENST00000583535.1	-	7	700	c.613C>A	c.(613-615)Ctg>Atg	p.L205M	MYH3_ENST00000226209.7_Missense_Mutation_p.L205M	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	205	Myosin head-like.				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						TTCTTGGCCAGGTCCCCAGTA	0.488000													67	11					9.07738e-34	1.88735e-33	0.003610	1	0
TPR	7175	broad.mit.edu	37	1	186310292	186310292	+	Splice_Site	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:186310292C>T	ENST00000367478.3	-	29	4185		c.e29-1			NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GTTTCCTCACCTGAAAATCAT	0.353000			T	NTRK1	papillary thyroid								24	19					0	0	0.002299	0	0
TBX3	6926	broad.mit.edu	37	12	115118881	115118881	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:115118881C>A	ENST00000349155.2	-	2	1423	c.460G>T	c.(460-462)Gac>Tac	p.D154Y	TBX3_ENST00000257566.3_Missense_Mutation_p.D154Y	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	154					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GCTATAATGTCCATCAATAAA	0.388000													52	32					1.11015e-26	2.17731e-26	0.003610	1	0
DRD2	1813	broad.mit.edu	37	11	113286302	113286302	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:113286302G>T	ENST00000362072.3	-	5	908	c.564C>A	c.(562-564)gcC>gcA	p.A188A	DRD2_ENST00000538967.1_Silent_p.A188A|DRD2_ENST00000544518.1_Silent_p.A187A|DRD2_ENST00000542968.1_Silent_p.A188A|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000355319.2_Silent_p.A188A|DRD2_ENST00000346454.3_Silent_p.A188A	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	188					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)	AGACCACGAAGGCCGGGTTGG	0.602000													8	9					0.000274275	0.000298482	0.004482	1	0
REG3A	5068	broad.mit.edu	37	2	79386515	79386515	+	Missense_Mutation	SNP	G	G	T	rs147363673		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:79386515G>T	ENST00000393878.1	-	1	271	c.17C>A	c.(16-18)gCc>gAc	p.A6D	REG3A_ENST00000305165.2_Missense_Mutation_p.A6D|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000409839.3_Missense_Mutation_p.A6D	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	6					acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.A6V(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						ACTGGGCAGGGCCATGGGAGG	0.532000													26	29					2.4375e-19	4.2883e-19	0.007291	1	0
NPAP1	23742	broad.mit.edu	37	15	24921513	24921513	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:24921513G>T	ENST00000329468.2	+	1	973	c.499G>T	c.(499-501)Gtg>Ttg	p.V167L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TGAGGATCCGGTGCAGATCGA	0.627000													11	21					1.08611e-07	1.34624e-07	0.000978	1	0
RBM44	375316	broad.mit.edu	37	2	238727147	238727147	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:238727147G>T	ENST00000316997.4	+	3	1720	c.1588G>T	c.(1588-1590)Gat>Tat	p.D530Y	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Missense_Mutation_p.D530Y	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	529							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		ATACAGTGAAGATTGTATAGA	0.333000													4	15					0.00909568	0.00952561	0.009096	1	0
KRT34	3885	broad.mit.edu	37	17	39535648	39535648	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:39535648G>T	ENST00000394001.1	-	5	989	c.959C>A	c.(958-960)aCa>aAa	p.T320K		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	320	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GGCGTTGACTGTGCGTCTCAG	0.597000													20	94					3.5997e-14	5.54221e-14	0.002299	1	0
C7orf60	154743	broad.mit.edu	37	7	112462099	112462099	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:112462099C>A	ENST00000297145.4	-	5	1083	c.918G>T	c.(916-918)aaG>aaT	p.K306N		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	306										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						ATTTTGAGTACTTGAAGCGTT	0.388000													38	20					1.07637e-12	1.59487e-12	0.004878	1	0
FLG	2312	broad.mit.edu	37	1	152284714	152284714	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:152284714G>C	ENST00000368799.1	-	3	2683	c.2648C>G	c.(2647-2649)tCc>tGc	p.S883C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	883	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)			CTGCCCACGGGAGGCATCAGA	0.567000									Ichthyosis				167	320					0	0	0.003610	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627341	21627341	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:21627341C>A	ENST00000425654.2	+	19	2688	c.2208C>A	c.(2206-2208)cgC>cgA	p.R736R	CNKSR2_ENST00000379510.3_Silent_p.R766R|CNKSR2_ENST00000279451.4_Silent_p.R766R|CNKSR2_ENST00000543067.1_Silent_p.R717R	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	766					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GTCAGCGCCGCTCCTGGCAGG	0.542000													51	9					5.57489e-27	1.09947e-26	0.003610	1	0
COL17A1	1308	broad.mit.edu	37	10	105830296	105830296	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:105830296G>T	ENST00000353479.5	-	9	785	c.495C>A	c.(493-495)ctC>ctA	p.L165L	COL17A1_ENST00000369733.3_Silent_p.L165L|COL17A1_ENST00000393211.3_Silent_p.L165L	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	165	Necessary for interaction with DST and for the recruitment of DST to hemidesmosome.|Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GACTCCCCTTGAGCAAACGCT	0.517000													20	51					1.56452e-12	2.2942e-12	0.007413	1	0
OR5T3	390154	broad.mit.edu	37	11	56020379	56020379	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:56020379C>A	ENST00000303059.3	+	1	704	c.704C>A	c.(703-705)tCt>tAt	p.S235Y		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTTGTGGGTTCTATTGAGATA	0.408000													56	123					3.21867e-24	6.14506e-24	0.003610	1	0
TRAPPC8	22878	broad.mit.edu	37	18	29446844	29446844	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:29446844T>A	ENST00000283351.4	-	18	2893	c.2558A>T	c.(2557-2559)gAt>gTt	p.D853V	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.D799V	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	853					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						ACCAATGCCATCTACTGTCAT	0.418000													23	32					0	0	0.004656	0	0
OR10K1	391109	broad.mit.edu	37	1	158435954	158435954	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:158435954G>T	ENST00000289451.2	+	1	683	c.603G>T	c.(601-603)atG>atT	p.M201I		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCATATTCATGCTTGGTGTAT	0.483000													70	61					1.34159e-35	2.82671e-35	0.003610	1	0
NOBOX	135935	broad.mit.edu	37	7	144098525	144098525	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:144098525G>T	ENST00000467773.1	-	4	457	c.458C>A	c.(457-459)gCt>gAt	p.A153D	NOBOX_ENST00000223140.5_Missense_Mutation_p.A68D|NOBOX_ENST00000483238.1_Missense_Mutation_p.A153D	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	153					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CCCAGCATCAGCCCCGGTGGC	0.637000													9	10					5.50884e-06	6.40815e-06	0.001368	1	0
KCND2	3751	broad.mit.edu	37	7	119915317	119915317	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:119915317T>A	ENST00000331113.4	+	1	1596	c.631T>A	c.(631-633)Tca>Aca	p.S211T		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	211					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GCCGTGCGGATCAAGCCCAGG	0.547000													17	48					0	0	0.006122	0	0
FKBP6	8468	broad.mit.edu	37	7	72754748	72754748	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:72754748G>T	ENST00000252037.4	+	6	766	c.697G>T	c.(697-699)Gac>Tac	p.D233Y	FKBP6_ENST00000413573.2_Missense_Mutation_p.D203Y|FKBP6_ENST00000431982.2_Missense_Mutation_p.D228Y	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	233					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCTGAAGCTAGACCGACCCAC	0.567000													17	32					9.16793e-09	1.1733e-08	0.004990	1	0
GABRA6	2559	broad.mit.edu	37	5	161119118	161119118	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:161119118A>T	ENST00000523217.1	+	8	1210	c.968A>T	c.(967-969)cAg>cTg	p.Q323L	GABRA6_ENST00000274545.5_Missense_Mutation_p.Q333L	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	333					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)	CTTCAGACACAGAAGGCCAAA	0.453000										TCGA Ovarian(5;0.080)			17	6					0	0	0.004007	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209933636	209933636	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:209933636C>A	ENST00000367024.1	+	3	768	c.252C>A	c.(250-252)gcC>gcA	p.A84A	TRAF3IP3_ENST00000367025.3_Silent_p.A84A|TRAF3IP3_ENST00000367026.3_Silent_p.A84A|TRAF3IP3_ENST00000010338.4_Silent_p.A84A|TRAF3IP3_ENST00000400959.3_Silent_p.A84A			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	84						integral to membrane	protein binding	p.A84A(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		ATCCCCAGGCCAGGGAGCAAG	0.602000													9	5					0.000442599	0.000477267	0.006214	1	0
RYR1	6261	broad.mit.edu	37	19	39063883	39063883	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:39063883A>G	ENST00000355481.4	+	95	14181	c.14050A>G	c.(14050-14052)Atc>Gtc	p.I4684V	RYR1_ENST00000360985.3_Missense_Mutation_p.I4684V|RYR1_ENST00000359596.3_Missense_Mutation_p.I4689V	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4689			F -> S (in MHS1).		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)	TGGCCTGTACATCACGGAGCA	0.622000													22	30					0	0	0.002780	0	0
EOMES	8320	broad.mit.edu	37	3	27759079	27759079	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:27759079G>T	ENST00000295743.4	-	6	1746	c.1543C>A	c.(1543-1545)Ccc>Acc	p.P515T	EOMES_ENST00000449599.1_Missense_Mutation_p.P534T|EOMES_ENST00000537516.1_Missense_Mutation_p.P239T			O95936	EOMES_HUMAN	eomesodermin	515					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						CACCGCTGGGGAGGGTTGGCC	0.522000													54	14					4.6707e-30	9.4615e-30	0.003610	1	0
ODF2	4957	broad.mit.edu	37	9	131262530	131262530	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:131262530C>G	ENST00000303890.5	+	23	2999	c.2414C>G	c.(2413-2415)gCc>gGc	p.A805G	ODF2_ENST00000434106.2_Missense_Mutation_p.A829G|ODF2_ENST00000372807.5_Missense_Mutation_p.A824G|ODF2_ENST00000444119.2_Missense_Mutation_p.A805G|ODF2_ENST00000351030.3_Missense_Mutation_p.A824G|ODF2_ENST00000372796.4_Missense_Mutation_p.A829G	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	829					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						TCTCCTCCTGCCTGAGGCCAC	0.552000													22	50					0	0	0.002299	0	0
WDR7	23335	broad.mit.edu	37	18	54444048	54444048	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:54444048G>T	ENST00000254442.3	+	17	3095	c.2884G>T	c.(2884-2886)Gat>Tat	p.D962Y	WDR7_ENST00000357574.3_Intron|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	962										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GTCTGATGCTGATCACTCTGG	0.428000													23	111					7.33532e-06	8.52581e-06	0.003954	1	0
CAMKK1	84254	broad.mit.edu	37	17	3779708	3779708	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:3779708G>A	ENST00000381771.2	-	11	1066	c.919C>T	c.(919-921)Cag>Tag	p.Q307*	CAMKK1_ENST00000348335.2_Nonsense_Mutation_p.Q269*|CAMKK1_ENST00000158166.5_Nonsense_Mutation_p.Q307*|CAMKK1_ENST00000381769.2_Nonsense_Mutation_p.Q296*			Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	269	Protein kinase.				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)		ACGATCTTCTGGCAGTGCACT	0.642000													35	11					0	0	0.004289	0	0
LRRC30	339291	broad.mit.edu	37	18	7231280	7231280	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:7231280G>T	ENST00000383467.2	+	1	158	c.144G>T	c.(142-144)atG>atT	p.M48I		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	48										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						AGCGGGGCATGCACCACGTCA	0.592000													23	31					1.10923e-09	1.46588e-09	0.002780	1	0
ATP2C1	27032	broad.mit.edu	37	3	130698177	130698177	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:130698177T>C	ENST00000510168.1	+	19	2205	c.1655T>C	c.(1654-1656)gTg>gCg	p.V552A	ATP2C1_ENST00000505330.1_Missense_Mutation_p.V536A|ATP2C1_ENST00000428331.2_Missense_Mutation_p.V552A|ATP2C1_ENST00000513801.1_Missense_Mutation_p.V536A|ATP2C1_ENST00000422190.2_Missense_Mutation_p.V552A|ATP2C1_ENST00000359644.3_Missense_Mutation_p.V552A|ATP2C1_ENST00000328560.8_Missense_Mutation_p.V552A|ATP2C1_ENST00000504948.1_Missense_Mutation_p.V536A|ATP2C1_ENST00000508532.1_Missense_Mutation_p.V552A|ATP2C1_ENST00000393221.4_Missense_Mutation_p.V586A|ATP2C1_ENST00000504381.1_Missense_Mutation_p.V497A|ATP2C1_ENST00000507488.2_Missense_Mutation_p.V536A|ATP2C1_ENST00000533801.2_Missense_Mutation_p.V547A			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	552					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)	AGAACTGGTGTGAAAGAAGCT	0.418000									Hailey-Hailey disease				77	12					0	0	0.003610	0	0
CD33	945	broad.mit.edu	37	19	51742912	51742912	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:51742912C>A	ENST00000262262.4	+	7	1085	c.1064C>A	c.(1063-1065)tCc>tAc	p.S355Y	CD33_ENST00000421133.2_Missense_Mutation_p.S228Y|CD33_ENST00000600557.1_3'UTR	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	355					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	AAGGACACCTCCACCGAATAC	0.537000													20	36					2.37509e-13	3.56389e-13	0.010504	1	0
WDR43	23160	broad.mit.edu	37	2	29164364	29164364	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:29164364A>T	ENST00000407426.3	+	15	1714	c.1658A>T	c.(1657-1659)cAg>cTg	p.Q553L		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	553						nucleolus				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					ACACTCTACCAGTTAATGGAA	0.388000													12	7					0	0	0.001368	0	0
BRWD3	254065	broad.mit.edu	37	X	79960191	79960191	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:79960191G>T	ENST00000373275.4	-	23	2923	c.2707C>A	c.(2707-2709)Cag>Aag	p.Q903K	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	903										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTTCTAGTCTGCTTAGGTTTC	0.318000													32	23					4.62619e-21	8.39941e-21	0.004289	1	0
ATP2B3	492	broad.mit.edu	37	X	152815537	152815537	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:152815537T>C	ENST00000370186.1	+	10	1900	c.1574T>C	c.(1573-1575)gTg>gCg	p.V525A	ATP2B3_ENST00000263519.4_Missense_Mutation_p.V539A|ATP2B3_ENST00000393842.1_Missense_Mutation_p.V525A|ATP2B3_ENST00000370181.2_Missense_Mutation_p.V525A|ATP2B3_ENST00000359149.3_Missense_Mutation_p.V539A|ATP2B3_ENST00000349466.2_Missense_Mutation_p.V539A			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	539					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCACGCCAGGTGGGCAATAAG	0.637000													44	17					0	0	0.008740	0	0
FNDC1	84624	broad.mit.edu	37	6	159654110	159654110	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:159654110C>T	ENST00000297267.9	+	11	2766	c.2566C>T	c.(2566-2568)Cga>Tga	p.R856*	FNDC1_ENST00000340366.6_Nonsense_Mutation_p.R793*	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	856						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGTGCCCTCCCGAGCCCACCC	0.622000													6	1					0	0	0.001984	0	0
SOCS2	8835	broad.mit.edu	37	12	93968550	93968550	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:93968550G>T	ENST00000340600.2	+	3	790	c.192G>T	c.(190-192)gaG>gaT	p.E64D	SOCS2_ENST00000536696.2_Missense_Mutation_p.E64D|SOCS2_ENST00000549206.1_Missense_Mutation_p.E64D|SOCS2_ENST00000548537.1_3'UTR|SOCS2_ENST00000551556.1_Missense_Mutation_p.E64D|SOCS2_ENST00000549122.1_Missense_Mutation_p.E64D	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN	suppressor of cytokine signaling 2	64	SH2.				anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						AATTAAAAGAGGCACCAGAAG	0.373000													9	1					7.48243e-07	9.00686e-07	0.006214	1	0
MYO1E	4643	broad.mit.edu	37	15	59523934	59523934	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:59523934G>A	ENST00000288235.4	-	6	876	c.477C>T	c.(475-477)gcC>gcT	p.A159A	MYO1E_ENST00000558814.1_5'UTR	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	159	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GGACGGTCTTGGCGTTCCCGA	0.522000													25	37					0	0	0.006320	0	0
TPRA1	131601	broad.mit.edu	37	3	127294893	127294893	+	Splice_Site	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:127294893C>A	ENST00000355552.3	-	7	875	c.498_splice	c.e7-1	p.G167_splice	TPRA1_ENST00000450633.2_Splice_Site_p.G167_splice|TPRA1_ENST00000296210.7_Splice_Site_p.G167_splice|TPRA1_ENST00000489960.1_Splice_Site_p.G167_splice	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	167					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						TCCAGGGTCCCCTGCAGGGGC	0.587000													23	20					1.28384e-07	1.58165e-07	0.001882	1	0
PCDHGB3	56102	broad.mit.edu	37	5	140751907	140751907	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:140751907G>T	ENST00000576222.1	+	1	2077	c.1946G>T	c.(1945-1947)gGa>gTa	p.G649V	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCGTGATGGAGGACAGCAG	0.637000													15	8					7.93312e-07	9.52512e-07	0.002450	1	0
GPR161	23432	broad.mit.edu	37	1	168054915	168054915	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:168054915C>T	ENST00000367838.1	-	8	1757	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	GPR161_ENST00000367835.1_Missense_Mutation_p.E482K|GPR161_ENST00000271357.5_Missense_Mutation_p.E482K|GPR161_ENST00000537209.1_Missense_Mutation_p.E502K|GPR161_ENST00000367836.1_Missense_Mutation_p.E350K|GPR161_ENST00000361697.2_Missense_Mutation_p.E482K|GPR161_ENST00000546300.1_Missense_Mutation_p.E368K|GPR161_ENST00000539777.1_Missense_Mutation_p.E404K	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	482					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					GGCAAAGCCTCCTCCCCAAAT	0.567000													56	70					0	0	0.003610	0	0
EMILIN2	84034	broad.mit.edu	37	18	2885111	2885111	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:2885111C>T	ENST00000254528.3	+	3	566	c.407C>T	c.(406-408)cCt>cTt	p.P136L		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	136					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCGGCTCGGCCTCGAAACAGC	0.507000													13	28					0	0	0.002450	0	0
COL13A1	1305	broad.mit.edu	37	10	71647246	71647246	+	Splice_Site	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:71647246C>G	ENST00000356340.3	+	6	1057	c.522_splice	c.e6+1	p.P174_splice	COL13A1_ENST00000398971.3_Splice_Site_p.P174_splice|COL13A1_ENST00000398969.3_Splice_Site_p.P136_splice|COL13A1_ENST00000398973.3_Splice_Site_p.P174_splice|COL13A1_ENST00000398972.3_Splice_Site_p.P174_splice|COL13A1_ENST00000398964.3_Splice_Site_p.P145_splice|COL13A1_ENST00000357811.3_Splice_Site_p.P174_splice|COL13A1_ENST00000398978.3_Splice_Site_p.P174_splice|COL13A1_ENST00000354547.3_Splice_Site_p.P174_splice|COL13A1_ENST00000398974.3_Splice_Site_p.P162_splice|COL13A1_ENST00000398966.3_Splice_Site_p.P174_splice|COL13A1_ENST00000398968.3_Splice_Site_p.P174_splice|COL13A1_ENST00000520267.1_Splice_Site_p.P136_splice|COL13A1_ENST00000522165.1_Splice_Site_p.P174_splice|COL13A1_ENST00000517713.1_Splice_Site_p.P174_splice|COL13A1_ENST00000520133.1_Splice_Site_p.P145_splice			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	174	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	CCTGGATTTCCGGTAAGTGGA	0.493000													6	7					0	0	0.003080	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133695	91133695	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:91133695C>A	ENST00000373094.1	+	2	3301	c.2456C>A	c.(2455-2457)gCt>gAt	p.A819D	PCDH11X_ENST00000298274.8_Missense_Mutation_p.A819D|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A819D|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A819D|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A819D|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A819D|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A819D|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A819D|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A819D	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	819					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCAGCTGTTGCTGGCACCATA	0.463000													42	69					5.85753e-14	8.96974e-14	0.003610	1	0
ADAD2	161931	broad.mit.edu	37	16	84227731	84227731	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:84227731G>T	ENST00000268624.3	+	2	631	c.538G>T	c.(538-540)Gac>Tac	p.D180Y	ADAD2_ENST00000315906.5_Intron|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	0	DRBM.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						ctggagaggggacctggattt	0.572000													14	17					4.36969e-10	5.85654e-10	0.001855	1	0
ADIG	149685	broad.mit.edu	37	20	37210018	37210018	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:37210018G>T	ENST00000537425.1	+	1	180		c.e1+1		ADIG_ENST00000373348.3_Splice_Site	NM_001018082.1	NP_001018092.1	Q0VDE8	ADIG_HUMAN	adipogenin						brown fat cell differentiation|positive regulation of fat cell differentiation|white fat cell differentiation	cytoplasm|integral to membrane|nucleus				endometrium(1)|kidney(1)	2		Myeloproliferative disorder(115;0.00878)				CTTAGCCAAGGTGAGCTTCTT	0.517000													15	50					0.000422831	0.00045804	0.004007	1	0
OR52A4P	390053	broad.mit.edu	37	11	5142772	5142772	+	RNA	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:5142772G>T	ENST00000498233.1	-	0	626																				breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGCACAAAAGGCATGAACAAG	0.418000													37	55					5.43694e-19	9.49455e-19	0.005524	1	0
SMARCA1	6594	broad.mit.edu	37	X	128652416	128652416	+	Silent	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:128652416A>G	ENST00000371122.4	-	2	312	c.183T>C	c.(181-183)gtT>gtC	p.V61V	SMARCA1_ENST00000371121.3_Silent_p.V61V|SMARCA1_ENST00000478420.1_5'UTR|SMARCA1_ENST00000371123.1_Silent_p.V61V	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	61					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GAAATGAAGAAACGTTTTTCT	0.348000													28	18					0	0	0.005443	0	0
SPTA1	6708	broad.mit.edu	37	1	158585084	158585084	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:158585084C>A	ENST00000368148.3	-	48	6890	c.6710G>T	c.(6709-6711)gGa>gTa	p.G2237V	SPTA1_ENST00000368147.3_Missense_Mutation_p.G2234V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2237					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGAGCCAATCCAATGGTGCT	0.527000													70	123					3.07281e-33	6.36095e-33	0.003610	1	0
BICD2	23299	broad.mit.edu	37	9	95482728	95482728	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:95482728C>A	ENST00000356884.6	-	4	983	c.916G>T	c.(916-918)Ggc>Tgc	p.G306C	BICD2_ENST00000375512.3_Missense_Mutation_p.G306C	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	306					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GCCAGGCCGCCGTGCTCAAAG	0.637000													22	4					7.41877e-09	9.53833e-09	0.001882	1	0
ARHGEF19	128272	broad.mit.edu	37	1	16535535	16535535	+	Silent	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:16535535T>A	ENST00000270747.3	-	2	151	c.15A>T	c.(13-15)ccA>ccT	p.P5P	ARHGEF19_ENST00000421561.1_Silent_p.P5P	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	5					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTAGCAGGTGGCCCACAGT	0.617000													13	4					0	0	0.004007	0	0
GPR50	9248	broad.mit.edu	37	X	150345294	150345294	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:150345294C>A	ENST00000218316.3	+	1	170	c.101C>A	c.(100-102)gCg>gAg	p.A34E	GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	34					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTTCTGCGCGATGGTTATC	0.522000													137	71					2.67552e-55	5.84573e-55	0.003610	1	0
PRUNE2	158471	broad.mit.edu	37	9	79325653	79325653	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:79325653C>A	ENST00000428286.1	-	8	1660	c.460G>T	c.(460-462)Gca>Tca	p.A154S	PRUNE2_ENST00000376718.3_Missense_Mutation_p.A513S			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	513					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GAGTAGTCTGCAGAATGAGAA	0.542000													6	2					3.59834e-05	4.06569e-05	0.001168	1	0
NPHS1	4868	broad.mit.edu	37	19	36336385	36336385	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:36336385G>T	ENST00000378910.5	-	14	1814	c.1815C>A	c.(1813-1815)gcC>gcA	p.A605A	NPHS1_ENST00000353632.6_Silent_p.A605A	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	605	Ig-like C2-type 6.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGACGCTCCTGGCGGCGGCGG	0.697000													22	15					1.28384e-07	1.58165e-07	0.001882	1	0
HOXB9	3219	broad.mit.edu	37	17	46703298	46703298	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:46703298C>A	ENST00000311177.5	-	1	541	c.334G>T	c.(334-336)Ggc>Tgc	p.G112C	HOXB9_ENST00000550387.1_Intron|HOXB7_ENST00000567101.1_Intron	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	112					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						GCCGCCTGGCCCTGCCCCGGG	0.741000													11	3					0.000673444	0.000721802	0.008291	1	0
ABCB4	5244	broad.mit.edu	37	7	87069682	87069682	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:87069682C>T	ENST00000265723.4	-	13	1504	c.1393G>A	c.(1393-1395)Gta>Ata	p.V465I	ABCB4_ENST00000545634.1_Missense_Mutation_p.V465I|ABCB4_ENST00000453593.1_Missense_Mutation_p.V465I|ABCB4_ENST00000358400.3_Missense_Mutation_p.V465I|ABCB4_ENST00000359206.3_Missense_Mutation_p.V465I	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	465	ABC transporter 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					AGATAGTTTACATTAAAGTTC	0.363000													15	18					0	0	0.004990	0	0
UTP14A	10813	broad.mit.edu	37	X	129055513	129055513	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:129055513G>T	ENST00000394422.3	+	11	1326	c.1298G>T	c.(1297-1299)aGa>aTa	p.R433I	UTP14A_ENST00000371051.5_Missense_Mutation_p.R379I|UTP14A_ENST00000498179.1_3'UTR|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.R381I|UTP14A_ENST00000371042.3_Missense_Mutation_p.R265I	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	433					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						CTTAGAAAAAGATCTGAGCTC	0.463000													22	23					2.89027e-11	4.06991e-11	0.002299	1	0
KXD1	79036	broad.mit.edu	37	19	18672929	18672929	+	Silent	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:18672929A>G	ENST00000602094.1	+	2	1523	c.63A>G	c.(61-63)acA>acG	p.T21T	KXD1_ENST00000599319.1_Silent_p.T21T|KXD1_ENST00000595073.1_Silent_p.T21T|KXD1_ENST00000601630.1_Silent_p.T21T|KXD1_ENST00000599000.1_Silent_p.T21T|KXD1_ENST00000539106.1_Silent_p.T21T|KXD1_ENST00000222307.4_Silent_p.T21T|KXD1_ENST00000598830.1_Silent_p.T21T|KXD1_ENST00000540691.1_Silent_p.T21T			Q9BQD3	CS050_HUMAN	KxDL motif containing 1	21							protein binding										TGGTGAACACAGATGATGTCA	0.587000													6	2					0	0	0.001168	0	0
PRDM9	56979	broad.mit.edu	37	5	23526698	23526698	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:23526698G>T	ENST00000296682.3	+	11	1683	c.1501G>T	c.(1501-1503)Ggc>Tgc	p.G501C		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	501					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GTCCAGAACAGGCCAGAAAGT	0.458000										HNSCC(3;0.000094)			17	13					1.99824e-07	2.449e-07	0.004990	1	0
OR51G1	79324	broad.mit.edu	37	11	4944805	4944805	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:4944805G>T	ENST00000321961.2	-	1	832	c.765C>A	c.(763-765)atC>atA	p.I255I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAATCATGGGGATGTAGAAGA	0.532000													25	62					7.87624e-14	1.19834e-13	0.002780	1	0
SPHKAP	80309	broad.mit.edu	37	2	228881720	228881720	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:228881720C>A	ENST00000392056.3	-	7	3896	c.3850G>T	c.(3850-3852)Ggt>Tgt	p.G1284C	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G1284C	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1284						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)		TTGCAGAGACCGGATGAGGAC	0.502000													38	5					2.75727e-19	4.82693e-19	0.004878	1	0
NCR1	9437	broad.mit.edu	37	19	55424185	55424185	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:55424185C>A	ENST00000594765.1	+	7	883	c.858C>A	c.(856-858)gcC>gcA	p.A286A	NCR1_ENST00000447255.1_Silent_p.A286A|NCR1_ENST00000357397.5_Silent_p.A180A|NCR1_ENST00000338835.5_Silent_p.A270A|NCR1_ENST00000350790.5_Silent_p.A192A|NCR1_ENST00000598576.1_Silent_p.A274A|NCR1_ENST00000291890.4_Silent_p.A287A			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	287					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GAGAGCGAGCCAGCAGAGCTT	0.542000													20	29					5.35267e-07	6.47066e-07	0.007413	1	0
SPATA31D1	389763	broad.mit.edu	37	9	84603853	84603853	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:84603853G>T	ENST00000344803.2	+	1	167	c.120G>T	c.(118-120)ctG>ctT	p.L40L		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TGTTTATACTGTACTTGTTCT	0.458000													25	7					5.35356e-11	7.4718e-11	0.002780	1	0
MAPK1	5594	broad.mit.edu	37	22	22143003	22143003	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:22143003T>A	ENST00000215832.6	-	5	892	c.704A>T	c.(703-705)gAc>gTc	p.D235V	MAPK1_ENST00000398822.3_Missense_Mutation_p.D235V|MAPK1_ENST00000544786.1_Missense_Mutation_p.D235V	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	235	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	GTTCAGCTGGTCAAGATAATG	0.438000													16	25					0	0	0.004007	0	0
INSL5	10022	broad.mit.edu	37	1	67263852	67263852	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:67263852C>A	ENST00000304526.2	-	2	286	c.252G>T	c.(250-252)aaG>aaT	p.K84N		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5	84						extracellular region	hormone activity			breast(2)|endometrium(1)|lung(5)	8						AGGCATCCACCTTCGGAAGGT	0.458000													40	8					1.8453e-21	3.37195e-21	0.002522	1	0
EPHX1	2052	broad.mit.edu	37	1	226032925	226032925	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:226032925C>A	ENST00000366837.4	+	9	1441	c.1245C>A	c.(1243-1245)ttC>ttA	p.F415L	EPHX1_ENST00000272167.5_Missense_Mutation_p.F415L|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	415					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GGGTGAGGTTCAAGTACCCAA	0.557000													27	13					7.41945e-09	9.53833e-09	0.005443	1	0
HHAT	55733	broad.mit.edu	37	1	210577926	210577926	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:210577926C>T	ENST00000367010.1	+	6	814	c.587C>T	c.(586-588)tCg>tTg	p.S196L	HHAT_ENST00000537898.1_Missense_Mutation_p.S131L|HHAT_ENST00000413764.2_Missense_Mutation_p.S196L|HHAT_ENST00000261458.3_Missense_Mutation_p.S196L|HHAT_ENST00000545154.1_Missense_Mutation_p.S197L|HHAT_ENST00000308852.6_Missense_Mutation_p.S151L|HHAT_ENST00000391905.3_Missense_Mutation_p.S196L|HHAT_ENST00000545781.1_Missense_Mutation_p.S133L|HHAT_ENST00000541565.1_Intron	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	196					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CCTGCTGCATCGACCTCCTAC	0.532000													42	4					0	0	0.003610	0	0
ASTN1	460	broad.mit.edu	37	1	177133544	177133544	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:177133544G>T	ENST00000367654.2	-	1	282	c.269C>A	c.(268-270)cCc>cAc	p.P90H	ASTN1_ENST00000367657.3_Missense_Mutation_p.P90H|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.P90H|ASTN1_ENST00000424564.2_Missense_Mutation_p.P90H			O14525	ASTN1_HUMAN	astrotactin 1	90					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						CACGAAGTAGGGCAGCTCCGT	0.692000													3	6					0.00024832	0.000272116	0.009096	1	0
POLE	5426	broad.mit.edu	37	12	133244114	133244114	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:133244114C>A	ENST00000320574.5	-	20	2337	c.2294G>T	c.(2293-2295)cGt>cTt	p.R765L	POLE_ENST00000535270.1_Missense_Mutation_p.R738L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	765					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)		GAACTCGTAACGCCTGTCCCG	0.572000								DNA polymerases (catalytic subunits)					67	39					2.40655e-23	4.53186e-23	0.003610	1	0
PCDHB11	56125	broad.mit.edu	37	5	140581353	140581353	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:140581353C>A	ENST00000354757.3	+	1	2006	c.2006C>A	c.(2005-2007)cCc>cAc	p.P669H	PCDHB11_ENST00000536699.1_Missense_Mutation_p.P304H	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		669	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTCCCAGCCCTACCTGCCG	0.687000													32	12					1.74807e-11	2.48622e-11	0.002096	1	0
SLC44A5	204962	broad.mit.edu	37	1	75677192	75677192	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:75677192C>T	ENST00000370855.5	-	23	2121	c.2008G>A	c.(2008-2010)Gtc>Atc	p.V670I	SLC44A5_ENST00000535611.1_Missense_Mutation_p.V540I|SLC44A5_ENST00000370859.3_Missense_Mutation_p.V670I	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	670						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						ATTGCATAGACGCTGAAGAAC	0.403000													11	5					0	0	0.001368	0	0
MYOM1	8736	broad.mit.edu	37	18	3126821	3126821	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:3126821G>A	ENST00000356443.4	-	19	3202	c.2869C>T	c.(2869-2871)Cca>Tca	p.P957S	MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000261606.7_Missense_Mutation_p.P861S|MYOM1_ENST00000400569.3_Missense_Mutation_p.P957S	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	957	Fibronectin type-III 4.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATCTTATCTGGTTGCTTCCAT	0.453000													6	13					0	0	0.001168	0	0
WDR17	116966	broad.mit.edu	37	4	177083325	177083325	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:177083325G>T	ENST00000393643.2	+	21	3102	c.2850_splice	c.e21+1	p.E950_splice	WDR17_ENST00000508596.1_Splice_Site_p.E950_splice|WDR17_ENST00000280190.4_Splice_Site_p.E974_splice|WDR17_ENST00000507824.2_Splice_Site_p.E957_splice	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	974										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ATAATATTGAGGTACGACATT	0.383000													11	3					9.70103e-10	1.28682e-09	0.008291	1	0
CSNK1G1	53944	broad.mit.edu	37	15	64499794	64499794	+	Splice_Site	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:64499794C>T	ENST00000303052.7	-	7	1103		c.e7-1		CSNK1G1_ENST00000607537.1_Splice_Site|CTD-2116N17.1_ENST00000606793.1_Splice_Site|CSNK1G1_ENST00000303032.6_Splice_Site	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1						Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						CGGCTTTGCTCTAAAAGGGAA	0.453000													11	16					0	0	0.008291	0	0
ATP2B2	491	broad.mit.edu	37	3	10392146	10392146	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:10392146C>A	ENST00000397077.1	-	14	2692	c.2117G>T	c.(2116-2118)gGg>gTg	p.G706V	ATP2B2_ENST00000383800.4_Missense_Mutation_p.G706V|ATP2B2_ENST00000343816.4_Missense_Mutation_p.G737V|ATP2B2_ENST00000352432.4_Missense_Mutation_p.G751V|ATP2B2_ENST00000360273.2_Missense_Mutation_p.G751V			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	751					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						AAAGTCCTCCCCAGGATGGAT	0.602000													25	7					1.66031e-10	2.26594e-10	0.003954	1	0
COL4A6	1288	broad.mit.edu	37	X	107402958	107402958	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:107402958G>T	ENST00000394872.2	-	44	4780	c.4549C>A	c.(4549-4551)Ccc>Acc	p.P1517T	COL4A6_ENST00000372216.4_Missense_Mutation_p.P1517T|COL4A6_ENST00000545689.1_Missense_Mutation_p.P1492T|COL4A6_ENST00000538570.1_Missense_Mutation_p.P1459T|COL4A6_ENST00000334504.7_Missense_Mutation_p.P1516T|COL4A6_ENST00000418180.1_Missense_Mutation_p.P51T			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1517	Collagen IV NC1.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CTGAAGCGGGGCAGACAGGAG	0.567000									Alport syndrome with Diffuse Leiomyomatosis				46	130					2.47872e-24	4.74336e-24	0.002522	1	0
KSR2	283455	broad.mit.edu	37	12	117968764	117968764	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:117968764G>A	ENST00000425217.1	-	12	1751	c.1697C>T	c.(1696-1698)cCg>cTg	p.P566L	KSR2_ENST00000302438.5_Missense_Mutation_p.P292L|KSR2_ENST00000339824.5_Missense_Mutation_p.P595L|KSR2_ENST00000545002.1_5'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	595					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.P292Q(1)|p.P627Q(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGAGGTCACCGGATGCAGGAT	0.542000													36	70					0	0	0.006999	0	0
CHCHD3	54927	broad.mit.edu	37	7	132709316	132709316	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:132709316C>T	ENST00000262570.5	-	3	385	c.241G>A	c.(241-243)Gat>Aat	p.D81N	CHCHD3_ENST00000476546.1_5'UTR|CHCHD3_ENST00000542753.1_Missense_Mutation_p.D81N|CHCHD3_ENST00000448878.1_Missense_Mutation_p.D81N	NM_017812.2	NP_060282.1	Q9NX63	CHCH3_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3	81					inner mitochondrial membrane organization|mitochondrial fusion	mitochondrial inner membrane	protein complex scaffold			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						CGTTTCTGATCTTCGGATTCT	0.383000													47	70					0	0	0.003610	0	0
RAD50	10111	broad.mit.edu	37	5	131973867	131973867	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:131973867G>T	ENST00000378823.3	+	23	3971	c.3153G>T	c.(3151-3153)aaG>aaT	p.K1051N	AC004041.2_ENST00000458509.1_RNA|AC004041.2_ENST00000457489.1_RNA|RAD50_ENST00000265335.6_Missense_Mutation_p.K1190N|AC004041.2_ENST00000435042.1_RNA|AC004041.2_ENST00000417516.1_RNA	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1190					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGATGCTGAAGGGAGACACAG	0.453000								Homologous recombination					10	3					0.00829132	0.00872188	0.008291	1	0
PDE1C	5137	broad.mit.edu	37	7	31917651	31917651	+	Splice_Site	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:31917651T>A	ENST00000396184.3	-	6	630		c.e6-2		PDE1C_ENST00000396182.2_Splice_Site|PDE1C_ENST00000321453.7_Splice_Site|PDE1C_ENST00000396191.1_Splice_Site|PDE1C_ENST00000396193.1_Splice_Site	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa						activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CTATACATTCTGAAAAGCCAA	0.348000													10	19					0	0	0.008291	0	0
ABCA5	23461	broad.mit.edu	37	17	67266797	67266797	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:67266797T>A	ENST00000392676.3	-	22	3051	c.2987A>T	c.(2986-2988)aAt>aTt	p.N996I	ABCA5_ENST00000588877.1_Missense_Mutation_p.N996I|ABCA5_ENST00000392677.2_Missense_Mutation_p.N997I			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	996					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TTCAGTCACATTTAAATGATA	0.303000													65	208					0	0	0.003610	0	0
ACTB	60	broad.mit.edu	37	7	5568883	5568883	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:5568883T>C	ENST00000331789.5	-	3	463	c.272A>G	c.(271-273)tAc>tGc	p.Y91C		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	91					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CAGCTCATTGTAGAAGGTGTG	0.617000													27	32					0	0	0.004656	0	0
ANO5	203859	broad.mit.edu	37	11	22271871	22271871	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:22271871G>T	ENST00000324559.8	+	10	1284	c.967G>T	c.(967-969)Gct>Tct	p.A323S		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	323						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						AGTTGGCTTAGCTTGTTTTAT	0.338000													20	14					2.39187e-15	3.77272e-15	0.008871	1	0
ZMYND8	23613	broad.mit.edu	37	20	45853080	45853080	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:45853080G>A	ENST00000311275.7	-	19	3339	c.3086C>T	c.(3085-3087)gCc>gTc	p.A1029V	ZMYND8_ENST00000471951.2_Missense_Mutation_p.A1049V|ZMYND8_ENST00000396281.4_Missense_Mutation_p.A1029V|ZMYND8_ENST00000458360.2_Missense_Mutation_p.A897V|ZMYND8_ENST00000536340.1_Missense_Mutation_p.A1056V|ZMYND8_ENST00000360911.3_Missense_Mutation_p.A978V|ZMYND8_ENST00000355972.4_Missense_Mutation_p.A1029V|ZMYND8_ENST00000540497.1_Missense_Mutation_p.A977V|ZMYND8_ENST00000352431.2_Missense_Mutation_p.A1003V|ZMYND8_ENST00000461685.1_Missense_Mutation_p.A1003V|ZMYND8_ENST00000372023.3_Missense_Mutation_p.A951V|ZMYND8_ENST00000262975.4_Missense_Mutation_p.A983V|ZMYND8_ENST00000446994.2_Missense_Mutation_p.A920V			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1029							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CTTGCAGTTGGCGCACCACTG	0.582000													27	91					0	0	0.005524	0	0
FGF13	2258	broad.mit.edu	37	X	137939743	137939743	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:137939743C>G	ENST00000441825.2	-	1	98	c.61G>C	c.(61-63)Gct>Cct	p.A21P	FGF13_ENST00000370603.3_Missense_Mutation_p.A50P|FGF13_ENST00000541469.1_Intron	NM_001139501.1|NM_001139502.1	NP_001132973.1|NP_001132974.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	0					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TGACACTTAGCACGAAAGGGG	0.488000													55	115					0	0	0.003610	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209082	140209082	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:140209082C>A	ENST00000529310.1	+	1	1520	c.1406C>A	c.(1405-1407)cCg>cAg	p.P469Q	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.P469Q|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAACAACCCGCCGGGCTGC	0.662000													26	12					2.65835e-16	4.32286e-16	0.007291	1	0
FOXG1	2290	broad.mit.edu	37	14	29237535	29237535	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:29237535G>A	ENST00000382535.3	+	2	1419	c.1050G>A	c.(1048-1050)ctG>ctA	p.L350L	FOXG1_ENST00000313071.4_Silent_p.L350L			P55316	FOXG1_HUMAN	forkhead box G1	350					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|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			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		AGAACTCGCTGGGCAACAACC	0.667000													67	9					0	0	0.003610	0	0
TEX10	54881	broad.mit.edu	37	9	103111484	103111484	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:103111484A>T	ENST00000374902.4	-	2	338	c.162T>A	c.(160-162)aaT>aaA	p.N54K	TEX10_ENST00000535814.1_Missense_Mutation_p.N57K|TEX10_ENST00000537512.1_Intron	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	54						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TAAGTTTTCTATTGTTTGTTG	0.303000													11	16					0	0	0.001855	0	0
OR13C8	138802	broad.mit.edu	37	9	107331522	107331522	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:107331522C>G	ENST00000335040.1	+	1	74	c.74C>G	c.(73-75)aCa>aGa	p.T25R		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						AAGCTCCAGACAGTTTTCTTC	0.443000													51	61					0	0	0.003610	0	0
SETBP1	26040	broad.mit.edu	37	18	42530401	42530401	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:42530401G>T	ENST00000282030.5	+	4	1392	c.1096G>T	c.(1096-1098)Gaa>Taa	p.E366*		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	366						nucleus	DNA binding	p.E366K(2)|p.E312K(2)		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)		TGACAATACAGAAGGGAAAAG	0.453000									Schinzel-Giedion syndrome				20	19					0.000958276	0.00102476	0.007413	1	0
OR10Z1	128368	broad.mit.edu	37	1	158577002	158577002	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:158577002G>A	ENST00000361284.1	+	1	774	c.774G>A	c.(772-774)gtG>gtA	p.V258V		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTTCCTTCGTGTACCTGAGGC	0.498000													123	98					0	0	0.003610	0	0
CCDC85A	114800	broad.mit.edu	37	2	56420333	56420333	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:56420333G>T	ENST00000407595.2	+	2	1500	c.998G>T	c.(997-999)gGa>gTa	p.G333V	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	333	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)			AGGCACAGTGGAGGGAGCCCG	0.627000													22	43					1.50039e-11	2.13825e-11	0.001882	1	0
TRABD2A	129293	broad.mit.edu	37	2	85049164	85049164	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:85049164C>A	ENST00000335459.5	-	6	1453	c.1248G>T	c.(1246-1248)cgG>cgT	p.R416R	TRABD2A_ENST00000479944.1_5'UTR|TRABD2A_ENST00000409520.2_Silent_p.R465R	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		GGCGAGGGAGCCGCAGTTCAG	0.592000													4	5					0.00909568	0.00952561	0.009096	1	0
HTN1	3346	broad.mit.edu	37	4	70921224	70921224	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:70921224C>A	ENST00000511674.1	+	5	183	c.112C>A	c.(112-114)Cat>Aat	p.H38N	HTN1_ENST00000246896.3_Missense_Mutation_p.H38N			P15515	HIS1_HUMAN	histatin 1	38					biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6						GGAAAAGCATCATTCACATCG	0.338000													7	2					8.12818e-05	9.06827e-05	0.001984	1	0
GPR141	353345	broad.mit.edu	37	7	37780648	37780648	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:37780648A>T	ENST00000447769.1	+	4	942	c.653A>T	c.(652-654)cAc>cTc	p.H218L	GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.H218L|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	218						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTACTATCCCACCAGGAGTTC	0.413000													39	64					0	0	0.004878	0	0
NBEA	26960	broad.mit.edu	37	13	35923251	35923251	+	Silent	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:35923251G>C	ENST00000400445.3	+	37	6444	c.5910G>C	c.(5908-5910)ctG>ctC	p.L1970L	NBEA_ENST00000379939.2_Silent_p.L1967L|NBEA_ENST00000310336.4_Silent_p.L1970L|NBEA_ENST00000540320.1_Silent_p.L1970L	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1970						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)		TTAGATTACTGTGCCATGCTA	0.323000													8	18					0	0	0.004482	0	0
TRAV25	28658	broad.mit.edu	37	14	22580941	22580941	+	RNA	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:22580941C>G	ENST00000390454.2	+	0	360																											CTGCACATCACAGCCACCCAG	0.483000													6	12					0	0	0.003080	0	0
DLG2	1740	broad.mit.edu	37	11	83497829	83497829	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:83497829C>A	ENST00000398309.2	-	13	1884	c.1414G>T	c.(1414-1416)Ggc>Tgc	p.G472C	DLG2_ENST00000532653.1_Missense_Mutation_p.G472C|DLG2_ENST00000531015.1_Missense_Mutation_p.G439C|DLG2_ENST00000418306.2_Missense_Mutation_p.G369C|DLG2_ENST00000376104.2_Missense_Mutation_p.G577C|DLG2_ENST00000524982.1_Missense_Mutation_p.G472C|DLG2_ENST00000398301.2_Missense_Mutation_p.G511C|DLG2_ENST00000280241.8_Missense_Mutation_p.G511C|DLG2_ENST00000330014.6_Missense_Mutation_p.G411C|DLG2_ENST00000543673.1_Missense_Mutation_p.G577C|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_Missense_Mutation_p.G226C	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	472	PDZ 3.					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)				AGGTCAATGCCATTCACCTGA	0.458000													33	18					5.8336e-16	9.40006e-16	0.003271	1	0
PINX1	54984	broad.mit.edu	37	8	10623065	10623065	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:10623065C>A	ENST00000314787.3	-	7	952	c.833G>T	c.(832-834)gGg>gTg	p.G278V	SOX7_ENST00000553390.1_Intron|SOX7_ENST00000554914.1_Intron|PINX1_ENST00000426190.2_3'UTR|CTD-2135J3.3_ENST00000519568.1_RNA|PINX1_ENST00000519088.1_3'UTR	NM_017884.4	NP_060354.4			PIN2/TERF1 interacting, telomerase inhibitor 1											kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		CACATGGTCCCCTGCATCCTG	0.597000													6	8					3.59834e-05	4.06569e-05	0.001168	1	0
RAB30	27314	broad.mit.edu	37	11	82705151	82705151	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:82705151G>A	ENST00000533486.1	-	4	391	c.107C>T	c.(106-108)cCa>cTa	p.P36L	RAB30_ENST00000260056.2_Missense_Mutation_p.P36L|RAB30_ENST00000527633.1_Missense_Mutation_p.P36L|RAB30_ENST00000532548.1_Missense_Mutation_p.P36L|RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000525117.1_Intron|RAB30_ENST00000534141.1_Missense_Mutation_p.P36L	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	36					protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TCCTTGACCTGGGGGGAAAAG	0.383000													30	89					0	0	0.002096	0	0
MYT1	4661	broad.mit.edu	37	20	62863576	62863576	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:62863576G>T	ENST00000536311.1	+	19	3180	c.2816G>T	c.(2815-2817)aGg>aTg	p.R939M	MYT1_ENST00000328439.1_Missense_Mutation_p.R912M			Q01538	MYT1_HUMAN	myelin transcription factor 1	912					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GCCTCTCACAGGAGCGCATCC	0.632000													22	36					7.45023e-12	1.07144e-11	0.010504	1	0
KCNQ2	3785	broad.mit.edu	37	20	62046337	62046337	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:62046337T>G	ENST00000354587.3	-	11	1536	c.1360A>C	c.(1360-1362)Aag>Cag	p.K454Q	KCNQ2_ENST00000370222.3_Missense_Mutation_p.K454Q|KCNQ2_ENST00000344462.3_Missense_Mutation_p.K442Q|KCNQ2_ENST00000360480.3_Missense_Mutation_p.K454Q|KCNQ2_ENST00000370224.1_Missense_Mutation_p.K454Q|KCNQ2_ENST00000357249.2_Missense_Mutation_p.K464Q|KCNQ2_ENST00000430658.1_Missense_Mutation_p.K452Q|KCNQ2_ENST00000370226.1_Missense_Mutation_p.K452Q|KCNQ2_ENST00000359689.1_Missense_Mutation_p.K482Q|KCNQ2_ENST00000359125.2_Missense_Mutation_p.K482Q			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	482					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CTCCAGCTCTTGGGCACCTTG	0.692000													33	51					0	0	0.002096	0	0
CIT	11113	broad.mit.edu	37	12	120171981	120171981	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:120171981T>A	ENST00000392521.2	-	26	3393	c.3338A>T	c.(3337-3339)gAg>gTg	p.E1113V	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.E1071V	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1071	Interaction with Rho/Rac.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCTCTGTTTCTCGGTGTCCAG	0.562000													28	13					0	0	0.009535	0	0
LAMA4	3910	broad.mit.edu	37	6	112480078	112480078	+	Missense_Mutation	SNP	G	G	T	rs137893207		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:112480078G>T	ENST00000230538.7	-	14	2070	c.1673C>A	c.(1672-1674)gCg>gAg	p.A558E	LAMA4_ENST00000522006.1_Missense_Mutation_p.A551E|LAMA4_ENST00000424408.2_Missense_Mutation_p.A551E|LAMA4_ENST00000389463.4_Missense_Mutation_p.A551E|RP1-142L7.5_ENST00000585373.1_RNA	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	558	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	p.A551V(2)		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)		AATCCCTGACGCATTCTAAAG	0.303000													14	3					1.5842e-08	2.02014e-08	0.001855	1	0
KRT31	3881	broad.mit.edu	37	17	39551818	39551818	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:39551818C>A	ENST00000251645.2	-	4	698	c.646G>T	c.(646-648)Gct>Tct	p.A216S		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	216	Linker 12.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				ACAGTGGGAGCAGCATCCACC	0.542000													25	41					5.35047e-06	6.26504e-06	0.003330	1	0
HCN1	348980	broad.mit.edu	37	5	45262443	45262443	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:45262443C>T	ENST00000303230.4	-	8	2310	c.2253G>A	c.(2251-2253)ccG>ccA	p.P751P		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	751	Gln-rich.					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						GCTGCGGGGACGgctgctgtg	0.637000													17	16					0	0	0.006122	0	0
TRRAP	8295	broad.mit.edu	37	7	98564763	98564763	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:98564763G>C	ENST00000359863.4	+	49	7464	c.7255G>C	c.(7255-7257)Gat>Cat	p.D2419H	TRRAP_ENST00000446306.3_Missense_Mutation_p.D2401H|TRRAP_ENST00000355540.3_Missense_Mutation_p.D2401H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2419					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.D2419H(1)|p.D2401H(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCAGTTTTTAGATCTTGTTAA	0.418000													41	89					0	0	0.007835	0	0
SLC38A10	124565	broad.mit.edu	37	17	79219442	79219442	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:79219442G>A	ENST00000374759.3	-	16	3657	c.3274C>T	c.(3274-3276)Cag>Tag	p.Q1092*		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	1092					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGGCGGAGCTGGGCATCCAGG	0.667000													15	57					0	0	0.003163	0	0
GATA3	2625	broad.mit.edu	37	10	8111517	8111517	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:8111517G>C	ENST00000379328.3	+	5	1574	c.1006G>C	c.(1006-1008)Gac>Cac	p.D336H	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Missense_Mutation_p.D335H	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	335					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	p.D336fs*17(3)		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						TGCCAATGGGGACCCTGTCTG	0.562000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						20	14					0	0	0.007413	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	25					0	0	0.009096	0	0
KRT19	3880	broad.mit.edu	37	17	39684352	39684352	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:39684352C>A	ENST00000361566.3	-	1	208	c.148G>T	c.(148-150)Gcc>Tcc	p.A50S		NM_002276.4	NP_002267.2			keratin 19											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				ACAAAGCGGGCGGAGGACACG	0.741000													16	22					3.32936e-07	4.04891e-07	0.006122	1	0
APC2	10297	broad.mit.edu	37	19	1462038	1462038	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:1462038G>A	ENST00000535453.1	+	13	3428	c.1715G>A	c.(1714-1716)tGc>tAc	p.C572Y	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Missense_Mutation_p.C572Y|CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000238483.4_Missense_Mutation_p.C298Y			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	572					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCCATCTGCCAGGTGGAT	0.652000													14	2					0	0	0.004007	0	0
FMN2	56776	broad.mit.edu	37	1	240370313	240370313	+	Missense_Mutation	SNP	G	G	A	rs140911005		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:240370313G>A	ENST00000319653.9	+	5	2431	c.2201G>A	c.(2200-2202)cGg>cAg	p.R734Q		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	734					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)			AAGGAAGTACGGCATCATAGG	0.557000													13	5					0	0	0.001368	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554148	140554148	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:140554148C>A	ENST00000231137.3	+	1	1906	c.1732C>A	c.(1732-1734)Cgg>Agg	p.R578R		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		578	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R578R(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCGTTGCCCCGGGCGGCCGA	0.706000													35	10					1.56738e-10	2.1599e-10	0.004289	1	0
SND1	27044	broad.mit.edu	37	7	127338952	127338952	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:127338952G>T	ENST00000354725.3	+	4	567	c.373G>T	c.(373-375)Gaa>Taa	p.E125*		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	125	TNase-like 1.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						AAACATTGCAGAATCACTGGT	0.473000													18	21					8.10497e-08	1.01348e-07	0.010504	1	0
ZSCAN4	201516	broad.mit.edu	37	19	58189661	58189661	+	Silent	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:58189661T>A	ENST00000318203.5	+	5	1387	c.690T>A	c.(688-690)ccT>ccA	p.P230P		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	230					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTCCTAGGCCTGAAGAGGGAG	0.413000													19	35					0	0	0.010504	0	0
DUOXA1	90527	broad.mit.edu	37	15	45411404	45411404	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:45411404G>A	ENST00000558996.1	-	6	851	c.797C>T	c.(796-798)gCt>gTt	p.A266V	DUOXA1_ENST00000267803.4_Missense_Mutation_p.A311V|DUOXA1_ENST00000560572.1_Missense_Mutation_p.A311V|DUOXA1_ENST00000558422.1_Missense_Mutation_p.A266V|DUOXA1_ENST00000559014.1_Missense_Mutation_p.A311V|DUOXA1_ENST00000430224.2_Missense_Mutation_p.A266V	NM_001276267.1|NM_001276268.1	NP_001263196.1|NP_001263197.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	311					protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		GGGACTGTCAGCCATGGACCG	0.552000													37	38					0	0	0.006230	0	0
LY86	9450	broad.mit.edu	37	6	6649876	6649876	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:6649876G>T	ENST00000379953.2	+	5	723	c.371G>T	c.(370-372)gGg>gTg	p.G124V	LY86_ENST00000230568.4_Missense_Mutation_p.G124V			O95711	LY86_HUMAN	lymphocyte antigen 86	124					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					TACTATGCTGGGCCTGTCAAT	0.299000													14	7					4.14922e-12	6.0098e-12	0.004007	1	0
SNX9	51429	broad.mit.edu	37	6	158349650	158349650	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:158349650G>T	ENST00000392185.3	+	12	1375	c.1204G>T	c.(1204-1206)Gtg>Ttg	p.V402L		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	402	BAR.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		GTGCGAGGCTGTGGGGAAGTT	0.592000													9	4					1.12685e-05	1.29803e-05	0.004482	1	0
LAIR2	3904	broad.mit.edu	37	19	55020268	55020268	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:55020268C>A	ENST00000301202.2	+	4	510	c.388C>A	c.(388-390)Ccg>Acg	p.P130T	LAIR2_ENST00000351841.2_Intron	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	130						extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		CCCGGACTCCCCGGACACAGA	0.627000													26	37					2.65835e-16	4.32286e-16	0.007291	1	0
KCNV2	169522	broad.mit.edu	37	9	2717905	2717905	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:2717905G>A	ENST00000382082.3	+	1	404	c.166G>A	c.(166-168)Gag>Aag	p.E56K		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	56						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.E56K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CTACTACATCGAGGAAGACGA	0.647000													17	27					0	0	0.006122	0	0
INO80	54617	broad.mit.edu	37	15	41347448	41347448	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:41347448C>A	ENST00000361937.3	-	18	2609	c.2185G>T	c.(2185-2187)Gag>Tag	p.E729*	INO80_ENST00000401393.3_Nonsense_Mutation_p.E729*			Q9ULG1	INO80_HUMAN	INO80 complex subunit	729	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TACTCACTCTCATCAATAGCA	0.348000													9	12					4.68919e-08	5.89997e-08	0.008291	1	0
TRPC4	7223	broad.mit.edu	37	13	38248495	38248495	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:38248495C>T	ENST00000379705.3	-	5	2101	c.1244G>A	c.(1243-1245)tGg>tAg	p.W415*	TRPC4_ENST00000379673.2_Nonsense_Mutation_p.W415*|TRPC4_ENST00000426868.2_Nonsense_Mutation_p.W415*|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.W415*|TRPC4_ENST00000379681.3_Nonsense_Mutation_p.W415*|TRPC4_ENST00000447043.1_Nonsense_Mutation_p.W415*|TRPC4_ENST00000358477.2_Nonsense_Mutation_p.W415*|TRPC4_ENST00000379679.1_Nonsense_Mutation_p.W242*|TRPC4_ENST00000338947.5_Nonsense_Mutation_p.W242*			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	415					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)		AATTTCTCCCCATATGAAGCC	0.333000													10	17					0	0	0.006214	0	0
TCOF1	6949	broad.mit.edu	37	5	149747463	149747463	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:149747463A>C	ENST00000451292.1	+	4	469	c.361A>C	c.(361-363)Atg>Ctg	p.M121L	TCOF1_ENST00000513346.1_Missense_Mutation_p.M121L|TCOF1_ENST00000394269.3_Missense_Mutation_p.M121L|TCOF1_ENST00000323668.7_Missense_Mutation_p.M121L|TCOF1_ENST00000445265.2_Missense_Mutation_p.M121L|TCOF1_ENST00000377797.3_Missense_Mutation_p.M121L|TCOF1_ENST00000439160.2_Missense_Mutation_p.M121L|TCOF1_ENST00000504761.2_Missense_Mutation_p.M121L			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	121					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCATCAAGCATGAAAGAAAA	0.493000													9	3					0	0	0.008291	0	0
PPIG	9360	broad.mit.edu	37	2	170487403	170487403	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:170487403A>G	ENST00000260970.3	+	10	887	c.667A>G	c.(667-669)Act>Gct	p.T223A	PPIG_ENST00000409714.3_Missense_Mutation_p.T208A|PPIG_ENST00000462903.1_Missense_Mutation_p.T223A|PPIG_ENST00000448752.2_Missense_Mutation_p.T223A|PPIG_ENST00000482772.1_3'UTR	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	223	Asp/Glu/Ser-rich.				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CGAAAGTGCTACTGAAGAGAA	0.373000													83	9					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179640216	179640216	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:179640216G>A	ENST00000589042.1	-	28	6599	c.6375C>T	c.(6373-6375)taC>taT	p.Y2125Y	TTN_ENST00000360870.5_Silent_p.Y2125Y|TTN_ENST00000591111.1_Silent_p.Y2125Y|TTN_ENST00000342992.6_Silent_p.Y2125Y|TTN_ENST00000342175.6_Silent_p.Y2079Y|TTN_ENST00000460472.2_Silent_p.Y2079Y|TTN_ENST00000359218.5_Silent_p.Y2079Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1888	Ig-like 10.						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)			GCCAGTACCAGTAGATCCGGT	0.483000													24	5					0	0	0.002780	0	0
ANK2	287	broad.mit.edu	37	4	114290745	114290745	+	Silent	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:114290745T>A	ENST00000357077.4	+	43	11447	c.11394T>A	c.(11392-11394)ccT>ccA	p.P3798P	ANK2_ENST00000394537.3_Silent_p.P1713P|ANK2_ENST00000509550.1_Silent_p.P889P|ANK2_ENST00000510275.2_Silent_p.P365P|ANK2_ENST00000264366.6_Silent_p.P3765P|ANK2_ENST00000506722.1_Silent_p.P1704P	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3765					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCAAGACACCTGAGGAAGTTA	0.527000													24	11					0	0	0.002780	0	0
CXorf66	347487	broad.mit.edu	37	X	139038471	139038471	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:139038471C>G	ENST00000370540.1	-	3	693	c.670G>C	c.(670-672)Gaa>Caa	p.E224Q		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	224						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GGTGAGATTTCATTTTGTGGA	0.443000													94	62					0	0	0.003610	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580953	140580953	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:140580953C>A	ENST00000354757.3	+	1	1606	c.1606C>A	c.(1606-1608)Cgc>Agc	p.R536S	PCDHB11_ENST00000536699.1_Missense_Mutation_p.R171S	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		536	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCACAGACCGCGGCTCCCC	0.667000													29	10					3.17567e-06	3.75258e-06	0.008361	1	0
E2F7	144455	broad.mit.edu	37	12	77444526	77444526	+	Splice_Site	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:77444526T>A	ENST00000322886.7	-	4	605		c.e4-2		E2F7_ENST00000416496.2_Splice_Site	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7						cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						AACATCAAGCTACAGAGGGCA	0.473000													19	4					0	0	0.007413	0	0
WBP4	11193	broad.mit.edu	37	13	41656988	41656988	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:41656988A>C	ENST00000379487.3	+	10	1469	c.1069A>C	c.(1069-1071)Aaa>Caa	p.K357Q	WBP4_ENST00000542082.1_Missense_Mutation_p.K336Q	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	357					nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		CCCAGTCTTCAAAAAGAGAAG	0.403000													11	16					0	0	0.001368	0	0
OLFML2B	25903	broad.mit.edu	37	1	161970018	161970018	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:161970018G>T	ENST00000294794.3	-	5	1257	c.834C>A	c.(832-834)ccC>ccA	p.P278P	OLFML2B_ENST00000367940.2_Silent_p.P279P	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	278										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GCCTCTGCAGGGGCCGCTGTG	0.597000													25	40					2.79863e-10	3.79757e-10	0.004656	1	0
MS4A3	932	broad.mit.edu	37	11	59834453	59834453	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:59834453C>T	ENST00000278865.3	+	5	454	c.381C>T	c.(379-381)gcC>gcT	p.A127A	MS4A3_ENST00000534744.1_Silent_p.A81A|MS4A3_ENST00000395032.2_Silent_p.A4A|MS4A3_ENST00000358152.2_Silent_p.A81A	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	127						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)				TGAACATTGCCAGTGCTACAA	0.363000													7	9					0	0	0.001984	0	0
CACNA1E	777	broad.mit.edu	37	1	181689992	181689992	+	Splice_Site	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:181689992G>C	ENST00000526775.1	+	15	2121		c.e15+1		CACNA1E_ENST00000357570.5_Splice_Site|CACNA1E_ENST00000360108.3_Splice_Site|CACNA1E_ENST00000367570.1_Splice_Site|CACNA1E_ENST00000358338.5_Splice_Site|CACNA1E_ENST00000367567.4_Splice_Site|CACNA1E_ENST00000367573.2_Splice_Site	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit						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						TGTGTTCCAGGTATGAGGCCA	0.438000													8	8					0	0	0.004482	0	0
NPAS4	266743	broad.mit.edu	37	11	66190227	66190227	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:66190227C>A	ENST00000311034.2	+	4	689	c.513C>A	c.(511-513)ggC>ggA	p.G171G		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	171					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						TTATTCGAGGCCGATTCCATG	0.592000													23	37					1.10513e-12	1.63068e-12	0.002299	1	0
KLF3	51274	broad.mit.edu	37	4	38698816	38698816	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:38698816G>A	ENST00000261438.5	+	6	1275	c.970G>A	c.(970-972)Gac>Aac	p.D324N		NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	324					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						CCAGTGCCCGGACTGTGACCG	0.512000													44	12					0	0	0.003214	0	0
GPI	2821	broad.mit.edu	37	19	34868446	34868446	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:34868446G>T	ENST00000356487.5	+	5	682	c.441G>T	c.(439-441)aaG>aaT	p.K147N	GPI_ENST00000586425.1_Missense_Mutation_p.K147N|GPI_ENST00000415930.3_Intron	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	147					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					ACACAGGCAAGACCATCACGG	0.597000													20	55					1.10923e-09	1.46588e-09	0.002780	1	0
NLRP1	22861	broad.mit.edu	37	17	5485233	5485233	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:5485233C>A	ENST00000345221.3	-	3	1152	c.598G>T	c.(598-600)Gag>Tag	p.E200*	NLRP1_ENST00000572272.1_Nonsense_Mutation_p.E200*|NLRP1_ENST00000262467.5_Nonsense_Mutation_p.E200*|NLRP1_ENST00000269280.4_Nonsense_Mutation_p.E200*|NLRP1_ENST00000354411.3_Nonsense_Mutation_p.E200*|NLRP1_ENST00000577119.1_Nonsense_Mutation_p.E200*|NLRP1_ENST00000571307.1_5'UTR	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	200					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CCAGGAGCCTCCTGCTCTCTG	0.622000													61	16					9.61844e-40	2.05097e-39	0.003610	1	0
ADCY2	108	broad.mit.edu	37	5	7766897	7766897	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:7766897C>A	ENST00000338316.4	+	17	2281	c.2192C>A	c.(2191-2193)gCg>gAg	p.A731E	ADCY2_ENST00000537121.1_Missense_Mutation_p.A551E	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	731					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.A731V(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ATTCTGCGTGCGCAGAATTTA	0.428000													31	40					1.36615e-20	2.46149e-20	0.002836	1	0
POTEC	388468	broad.mit.edu	37	18	14537921	14537921	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:14537921G>T	ENST00000358970.5	-	3	688	c.689C>A	c.(688-690)gCt>gAt	p.A230D	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	230										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						ATTTTGATCAGCGCCATGTTC	0.383000													34	48					2.09667e-21	3.82143e-21	0.003755	1	0
PLXNB2	23654	broad.mit.edu	37	22	50722093	50722093	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:50722093C>T	ENST00000449103.1	-	15	2648	c.2508G>A	c.(2506-2508)caG>caA	p.Q836Q	PLXNB2_ENST00000496720.1_5'UTR|PLXNB2_ENST00000359337.4_Silent_p.Q836Q			O15031	PLXB2_HUMAN	plexin B2	836	IPT/TIG 1.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGAGATCCTCTGGATGTCCC	0.647000													9	20					0	0	0.004482	0	0
C10orf120	399814	broad.mit.edu	37	10	124459225	124459225	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:124459225C>A	ENST00000329446.4	-	1	113	c.82G>T	c.(82-84)Gaa>Taa	p.E28*		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	28										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				ACTGGCTTTTCATTCTTCCTT	0.443000													17	20					4.7546e-09	6.17402e-09	0.004007	1	0
ZC3H11A	9877	broad.mit.edu	37	1	203798748	203798748	+	Silent	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:203798748A>G	ENST00000545588.1	+	5	4295	c.468A>G	c.(466-468)gtA>gtG	p.V156V	ZC3H11A_ENST00000367210.1_Silent_p.V156V|ZC3H11A_ENST00000367212.3_Silent_p.V156V|ZC3H11A_ENST00000332127.4_Silent_p.V156V|ZC3H11A_ENST00000367214.1_Silent_p.V156V	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	156							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACCAGTTGTAATTAATGCTG	0.438000													70	13					0	0	0.003610	0	0
PC	5091	broad.mit.edu	37	11	66617321	66617321	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:66617321C>T	ENST00000393960.1	-	21	3189	c.2908G>A	c.(2908-2910)Gac>Aac	p.D970N	PC_ENST00000529047.1_Missense_Mutation_p.D90N|PC_ENST00000528224.1_5'UTR|PC_ENST00000393955.2_Missense_Mutation_p.D970N|PC_ENST00000393958.2_Missense_Mutation_p.D970N	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	970					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CTTGGCAGGTCCTTCAGTACC	0.637000													21	35					0	0	0.001882	0	0
ABCG8	64241	broad.mit.edu	37	2	44099212	44099212	+	Silent	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:44099212T>A	ENST00000272286.2	+	7	1152	c.1062T>A	c.(1060-1062)cgT>cgA	p.R354R		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	354					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AAAAAGTGCGTGACTTAGATG	0.542000													47	9					0	0	0.002852	0	0
C6orf118	168090	broad.mit.edu	37	6	165712974	165712974	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:165712974G>T	ENST00000543069.1	-	4	1163	c.582C>A	c.(580-582)taC>taA	p.Y194*	C6orf118_ENST00000230301.8_Nonsense_Mutation_p.Y298*			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	298										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GCGTTGCCATGTAGAGTTCAT	0.463000													13	4					3.27435e-08	4.13081e-08	0.002450	1	0
TASP1	55617	broad.mit.edu	37	20	13561609	13561609	+	Silent	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:13561609C>G	ENST00000337743.4	-	6	543	c.423G>C	c.(421-423)tcG>tcC	p.S141S	TASP1_ENST00000539805.1_Intron|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	141					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						TGTTGGCAACCGAGACTGGGT	0.418000													18	30					0	0	0.007413	0	0
COL24A1	255631	broad.mit.edu	37	1	86591275	86591275	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:86591275G>T	ENST00000370571.2	-	3	1110	c.744C>A	c.(742-744)taC>taA	p.Y248*	COL24A1_ENST00000436319.1_Nonsense_Mutation_p.Y248*	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	248					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)		TTTCAGGTTGGTATTTGTCTG	0.428000													35	7					3.76114e-14	5.78448e-14	0.004289	1	0
FLNA	2316	broad.mit.edu	37	X	153590134	153590134	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:153590134T>G	ENST00000422373.1	-	20	3096	c.2848A>C	c.(2848-2850)Act>Cct	p.T950P	FLNA_ENST00000369850.3_Missense_Mutation_p.T950P|FLNA_ENST00000360319.4_Missense_Mutation_p.T950P|FLNA_ENST00000344736.4_Missense_Mutation_p.T950P	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	950					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					CCTCCATAAGTGACATTGACG	0.557000													52	53					0	0	0.003610	0	0
STC2	8614	broad.mit.edu	37	5	172745124	172745124	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:172745124G>T	ENST00000265087.4	-	4	1944	c.635C>A	c.(634-636)aCc>aAc	p.T212N		NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	212					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GATGGCCGAGGTGCAGAAGCT	0.647000													14	9					0.000219431	0.000242332	0.002450	1	0
OGDHL	55753	broad.mit.edu	37	10	50964945	50964945	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:50964945G>T	ENST00000374103.4	-	3	337	c.252C>A	c.(250-252)ggC>ggA	p.G84G	OGDHL_ENST00000419399.1_Intron|OGDHL_ENST00000432695.1_Intron	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	84					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCTGAGCAGAGCCAGAAAAGG	0.592000													17	20					2.48551e-13	3.7217e-13	0.004990	1	0
RAB3IP	117177	broad.mit.edu	37	12	70195437	70195437	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:70195437G>A	ENST00000550536.1	+	8	1571	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	RAB3IP_ENST00000247833.7_Missense_Mutation_p.E356K|RAB3IP_ENST00000325555.9_Missense_Mutation_p.E150K|RAB3IP_ENST00000553099.1_Missense_Mutation_p.E150K|RAB3IP_ENST00000362025.5_Missense_Mutation_p.E372K|RAB3IP_ENST00000551641.1_Missense_Mutation_p.E150K|RAB3IP_ENST00000483530.2_Missense_Mutation_p.E356K|RAB3IP_ENST00000550847.1_Missense_Mutation_p.E63K	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	372					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)			TCTAAGCATTGAACCAGTGGG	0.398000													19	6					0	0	0.001882	0	0
VIM	7431	broad.mit.edu	37	10	17276749	17276749	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:17276749C>T	ENST00000544301.1	+	6	1353	c.940C>T	c.(940-942)Cag>Tag	p.Q314*	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000224237.5_Nonsense_Mutation_p.Q314*	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	314	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCAGGCAAAGCAGGAGTCCAC	0.517000													43	21					0	0	0.008740	0	0
MED12	9968	broad.mit.edu	37	X	70352315	70352315	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:70352315G>T	ENST00000333646.6	+	31	4541	c.4342G>T	c.(4342-4344)Ggg>Tgg	p.G1448W	MED12_ENST00000374102.1_Missense_Mutation_p.G1448W|MED12_ENST00000374080.3_Missense_Mutation_p.G1448W|MED12_ENST00000478889.1_Intron	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1448					androgen receptor signaling pathway|negative regulation of Wnt 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|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AAAGGCTGCTGGGGAAGAATT	0.542000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						9	9					2.17888e-05	2.48764e-05	0.006214	1	0
MYO3A	53904	broad.mit.edu	37	10	26446279	26446279	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:26446279A>T	ENST00000265944.5	+	26	3000	c.2834A>T	c.(2833-2835)cAa>cTa	p.Q945L	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	945	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GTGGTGGGCCAACCTCATTTT	0.383000													17	9					0	0	0.007413	0	0
RELN	5649	broad.mit.edu	37	7	103474000	103474000	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:103474000C>A	ENST00000428762.1	-	3	616	c.457G>T	c.(457-459)Ggc>Tgc	p.G153C	RELN_ENST00000343529.5_Missense_Mutation_p.G153C|RELN_ENST00000424685.2_Missense_Mutation_p.G153C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	153	Reelin.				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)		TTCACACAGCCTGTGCCCGCA	0.453000													14	50					5.01169e-05	5.62675e-05	0.004990	1	0
F8	2157	broad.mit.edu	37	X	154158167	154158167	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:154158167C>A	ENST00000360256.4	-	14	4098	c.3898G>T	c.(3898-3900)Gga>Tga	p.G1300*		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1300	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GTTTGATTTCCCAAGCCTTCC	0.373000													45	138					9.9191e-30	2.00646e-29	0.008740	1	0
FAM133A	286499	broad.mit.edu	37	X	92964479	92964479	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:92964479G>T	ENST00000538690.1	+	5	622	c.61G>T	c.(61-63)Ggc>Tgc	p.G21C	FAM133A_ENST00000332647.4_Missense_Mutation_p.G21C|FAM133A_ENST00000355813.5_Missense_Mutation_p.G21C|FAM133A_ENST00000322139.4_Missense_Mutation_p.G21C	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	21										breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						CAGATGGAGAGGCCCAACTCA	0.458000													16	19					9.16793e-09	1.1733e-08	0.004990	1	0
NPR3	4883	broad.mit.edu	37	5	32784940	32784940	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:32784940G>T	ENST00000265074.8	+	7	1808	c.1465G>T	c.(1465-1467)Gtg>Ttg	p.V489L	NPR3_ENST00000434067.2_Missense_Mutation_p.V273L|NPR3_ENST00000415685.2_Missense_Mutation_p.V272L|NPR3_ENST00000415167.2_Missense_Mutation_p.V488L	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	489					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	AGGAATTGTCGTGGGGGCTTT	0.453000													19	34					2.89027e-11	4.06991e-11	0.002299	1	0
DGKG	1608	broad.mit.edu	37	3	185983091	185983091	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:185983091C>T	ENST00000265022.3	-	14	1753	c.1214G>A	c.(1213-1215)aGg>aAg	p.R405K	DGKG_ENST00000382164.4_Missense_Mutation_p.R366K|DGKG_ENST00000544847.1_Intron|DGKG_ENST00000344484.4_Missense_Mutation_p.R405K	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	405					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			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CTCACCTGGCCTGTCCTGTGA	0.448000													11	28					0	0	0.000978	0	0
FILIP1	27145	broad.mit.edu	37	6	76023481	76023481	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:76023481G>T	ENST00000393004.2	-	5	2288	c.2067C>A	c.(2065-2067)gcC>gcA	p.A689A	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Silent_p.A689A|FILIP1_ENST00000370020.1_Silent_p.A590A			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	689										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTTTATTCTTGGCAATTTGGT	0.433000													89	22					7.28744e-38	1.54233e-37	0.003610	1	0
OLFML2B	25903	broad.mit.edu	37	1	161989882	161989882	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:161989882A>T	ENST00000294794.3	-	2	688	c.265T>A	c.(265-267)Tgc>Agc	p.C89S	OLFML2B_ENST00000367940.2_Missense_Mutation_p.C89S	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	89										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			ATCCTCTGGCAGGCATCCCGG	0.587000													28	25					0	0	0.006320	0	0
FLNC	2318	broad.mit.edu	37	7	128494601	128494601	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:128494601G>T	ENST00000325888.8	+	41	7123	c.6862G>T	c.(6862-6864)Gtc>Ttc	p.V2288F	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.V2255F	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2288					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						GCCCCATACGGTCGCTGTCAA	0.672000													4	7					0.00024832	0.000272116	0.009096	1	0
PCDHGA4	56111	broad.mit.edu	37	5	140736547	140736547	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:140736547G>T	ENST00000571252.1	+	1	1780	c.1780G>T	c.(1780-1782)Gtg>Ttg	p.V594L	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGGTGGCAGTGGACAGAGA	0.607000													44	19					1.00001e-27	1.9972e-27	0.009718	1	0
CD44	960	broad.mit.edu	37	11	35227679	35227679	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:35227679C>A	ENST00000428726.2	+	11	1426	c.1303C>A	c.(1303-1305)Cat>Aat	p.H435N	CD44_ENST00000449691.2_Missense_Mutation_p.H392N|CD44_ENST00000415148.2_Missense_Mutation_p.H392N|CD44_ENST00000433354.2_Missense_Mutation_p.H436N|CD44_ENST00000526669.2_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.H435N|CD44_ENST00000434472.2_Intron|CD44_ENST00000433892.2_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	435	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	TCATACCAGCCATCCAATGCA	0.473000													17	27					1.5739e-10	2.16049e-10	0.004007	1	0
KCNT2	343450	broad.mit.edu	37	1	196227369	196227369	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:196227369C>A	ENST00000367433.5	-	25	3195	c.3094G>T	c.(3094-3096)Gtg>Ttg	p.V1032L	KCNT2_ENST00000294725.8_Missense_Mutation_p.V1056L|KCNT2_ENST00000367431.4_Missense_Mutation_p.V990L|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1056						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CTATTTTTCACAAGTTCAGCA	0.398000													27	32					3.69857e-22	6.82886e-22	0.008361	1	0
GPR149	344758	broad.mit.edu	37	3	154146871	154146871	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:154146871C>A	ENST00000389740.2	-	1	633	c.534G>T	c.(532-534)acG>acT	p.T178T		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	178						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)			AGCCCCAGGGCGTGCGCACGA	0.667000													18	28					5.01169e-05	5.62675e-05	0.004990	1	0
LRRC7	57554	broad.mit.edu	37	1	70504653	70504653	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:70504653G>T	ENST00000310961.5	+	22	3465	c.3047G>T	c.(3046-3048)gGa>gTa	p.G1016V	LRRC7_ENST00000415775.2_Missense_Mutation_p.G295V|LRRC7_ENST00000035383.5_Missense_Mutation_p.G1011V			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1011						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						CTCACCTACGGAAGTAGTAAG	0.468000													12	4					4.36969e-10	5.85654e-10	0.001855	1	0
CSMD3	114788	broad.mit.edu	37	8	113241120	113241120	+	Splice_Site	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:113241120C>A	ENST00000297405.5	-	70	11073	c.10828_splice	c.e70-1	p.G3610_splice	CSMD3_ENST00000455883.2_Splice_Site_p.G3441_splice|CSMD3_ENST00000352409.3_Splice_Site_p.G3540_splice|CSMD3_ENST00000343508.3_Splice_Site_p.G3570_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3610						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						CATATTCAGTCCTACaaaata	0.279000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	2					6.40141e-05	7.16433e-05	0.000978	1	0
PRKCG	5582	broad.mit.edu	37	19	54403679	54403679	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:54403679C>A	ENST00000263431.3	+	13	1662	c.1380C>A	c.(1378-1380)taC>taA	p.Y460*	PRKCG_ENST00000542049.1_Nonsense_Mutation_p.Y347*|PRKCG_ENST00000540413.1_Nonsense_Mutation_p.Y460*	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	460	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCAGGTTCTACGCGGCAGAAA	0.597000													28	15					5.77227e-19	1.00554e-18	0.008361	1	0
MYLIP	29116	broad.mit.edu	37	6	16143360	16143360	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:16143360G>T	ENST00000349606.4	+	3	535	c.31G>T	c.(31-33)Gtg>Ttg	p.V11L	MYLIP_ENST00000356840.3_Missense_Mutation_p.V192L			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	192	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			ATGGCATTCTGTGCGGGATAG	0.453000													32	6					2.20262e-25	4.24941e-25	0.002836	1	0
MEOX2	4223	broad.mit.edu	37	7	15666476	15666476	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:15666476G>T	ENST00000262041.5	-	2	994	c.585C>A	c.(583-585)acC>acA	p.T195T		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	195					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)		TTTGCTCTTTGGTAAATGCTG	0.408000													11	32					6.40141e-05	7.16433e-05	0.000978	1	0
ERRFI1	54206	broad.mit.edu	37	1	8073505	8073505	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:8073505T>A	ENST00000377482.5	-	4	1377	c.1154A>T	c.(1153-1155)aAt>aTt	p.N385I	ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000474874.1_Intron	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	385					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CTTCTTCCCATTTTCAATAAT	0.413000													52	9					0	0	0.003610	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735035	55735035	+	Nonstop_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:55735035C>G	ENST00000312345.2	-	1	955	c.905G>C	c.(904-906)tGa>tCa	p.*302S		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	0					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)					GTCTTCATCTCATGTTAATAA	0.303000													16	28					0	0	0.004007	0	0
LILRB2	10288	broad.mit.edu	37	19	54780277	54780277	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:54780277C>T	ENST00000391748.1	-	11	1641	c.1514G>A	c.(1513-1515)gGg>gAg	p.G505E	LILRB2_ENST00000391746.1_Intron|LILRB2_ENST00000314446.5_Missense_Mutation_p.G505E|LILRB2_ENST00000391749.4_Missense_Mutation_p.G506E|LILRB2_ENST00000434421.1_Missense_Mutation_p.G390E	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	506					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCCACAGCCCCTGCAGGATG	0.622000													18	23					0	0	0.001882	0	0
ALK	238	broad.mit.edu	37	2	30143132	30143132	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:30143132C>A	ENST00000389048.3	-	1	1300	c.394G>T	c.(394-396)Gtg>Ttg	p.V132L	ALK_ENST00000431873.1_Missense_Mutation_p.V132L	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	132					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AGCTTGCGCACGGAGCCGCCC	0.741000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				4	1					0.00909568	0.00952561	0.009096	1	0
REM1	28954	broad.mit.edu	37	20	30064330	30064330	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:30064330C>G	ENST00000201979.2	+	2	375	c.82C>G	c.(82-84)Cac>Gac	p.H28D	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	28			H -> R (in dbSNP:rs1006459).		small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CCCACGGGGCCACCAGCCTGG	0.647000													33	35					0	0	0.004289	0	0
ITIH6	347365	broad.mit.edu	37	X	54777568	54777568	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:54777568G>C	ENST00000218436.6	-	12	3627	c.3598C>G	c.(3598-3600)Cgc>Ggc	p.R1200G		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1200					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										GGCCCAAGGCGGAGGGTAAGG	0.642000													6	3					0	0	0.001168	0	0
CCDC148	130940	broad.mit.edu	37	2	159033120	159033120	+	Silent	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:159033120T>C	ENST00000283233.5	-	13	1855	c.1542A>G	c.(1540-1542)gcA>gcG	p.A514A	CCDC148-AS1_ENST00000412781.2_RNA|CCDC148_ENST00000409187.1_Silent_p.A523A	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	514										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TAGCTTTTGATGCCATTGTAT	0.343000													19	1					0	0	0.008871	0	0
OR5K1	26339	broad.mit.edu	37	3	98189183	98189183	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:98189183C>T	ENST00000332650.5	+	1	860	c.763C>T	c.(763-765)Ctt>Ttt	p.L255F		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTATGGATCTCTTTTCTTCAT	0.343000													84	7					0	0	0.003610	0	0
FAM47A	158724	broad.mit.edu	37	X	34150258	34150258	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:34150258C>A	ENST00000346193.3	-	1	189	c.138G>T	c.(136-138)caG>caT	p.Q46H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	46										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ATACCCAGTTCTGGGTGTCCA	0.572000													29	9					7.38237e-10	9.82007e-10	0.006320	1	0
PNLIPRP2	5408	broad.mit.edu	37	10	118385498	118385498	+	RNA	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:118385498C>A	ENST00000537242.1	+	0	272				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		AGGCTTCAAACTTCCAACTGG	0.478000													7	23					8.12818e-05	9.06827e-05	0.001984	1	0
SLC43A1	8501	broad.mit.edu	37	11	57259335	57259335	+	Splice_Site	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:57259335C>T	ENST00000278426.3	-	9	1227	c.871_splice	c.e9-1	p.R291_splice	SLC43A1_ENST00000528450.1_Splice_Site_p.R291_splice|SLC43A1_ENST00000533515.1_5'UTR	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	291					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GGGGACAGACCCTGGGGAGAC	0.602000											OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	17					0	0	0.006122	0	0
MS4A7	58475	broad.mit.edu	37	11	60157001	60157001	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:60157001C>A	ENST00000358246.1	+	4	536	c.343C>A	c.(343-345)Cct>Act	p.P115T	MS4A7_ENST00000530234.2_Intron|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000300184.3_Missense_Mutation_p.P160T|MS4A7_ENST00000534016.1_Missense_Mutation_p.P115T	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	160						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						ATCCTCATTGCCTTATTCGGA	0.438000													12	43					2.61681e-11	3.70324e-11	0.002450	1	0
SSTR1	6751	broad.mit.edu	37	14	38678810	38678810	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:38678810G>A	ENST00000267377.2	+	3	833	c.216G>A	c.(214-216)ggG>ggA	p.G72G		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	72					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GCCTGGTGGGGCTGTGTGGGA	0.567000													43	4					0	0	0.002522	0	0
SRCAP	10847	broad.mit.edu	37	16	30718950	30718950	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:30718950C>T	ENST00000262518.4	+	6	935	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	SRCAP_ENST00000344771.4_Missense_Mutation_p.R184W|SRCAP_ENST00000395059.2_Missense_Mutation_p.R184W	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	184	HSA.				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)			GGAACGGGCCCGGAGGGAGGA	0.587000													15	21					0	0	0.003163	0	0
GYS2	2998	broad.mit.edu	37	12	21689983	21689983	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:21689983C>T	ENST00000261195.2	-	16	2271	c.2017G>A	c.(2017-2019)Gag>Aag	p.E673K		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	673					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTTTCAGCCTCCTCTTCCTCA	0.468000													13	7					0	0	0.001368	0	0
SMARCA1	6594	broad.mit.edu	37	X	128657242	128657242	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:128657242C>T	ENST00000371122.4	-	1	235	c.106G>A	c.(106-108)Gag>Aag	p.E36K	SMARCA1_ENST00000371121.3_Missense_Mutation_p.E36K|SMARCA1_ENST00000371123.1_Missense_Mutation_p.E36K	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	36					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GCTCCCTCCTCCTGAGAGGTG	0.677000													34	105					0	0	0.002445	0	0
PLXDC2	84898	broad.mit.edu	37	10	20506453	20506453	+	Silent	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:20506453T>C	ENST00000377252.3	+	11	2062	c.1221T>C	c.(1219-1221)acT>acC	p.T407T	PLXDC2_ENST00000377242.3_Silent_p.T358T|PLXDC2_ENST00000377238.2_3'UTR	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	407	Thr-rich.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GGGTCCTAACTACCACCAGAA	0.423000													17	7					0	0	0.008871	0	0
HOXB3	3213	broad.mit.edu	37	17	46629746	46629746	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:46629746C>A	ENST00000470495.1	-	1	1538	c.91G>T	c.(91-93)Gtc>Ttc	p.V31F	HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000485909.2_Intron|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000476342.1_Missense_Mutation_p.V31F|HOXB3_ENST00000498678.1_Missense_Mutation_p.V31F|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000311626.4_Missense_Mutation_p.V31F			P14651	HXB3_HUMAN	homeobox B3	31					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						TGGGGGGGGACATCGAAGCCG	0.642000													13	58					1.41608e-15	2.26126e-15	0.001855	1	0
C8orf74	203076	broad.mit.edu	37	8	10555224	10555224	+	Silent	SNP	C	C	T	rs138937646	by1000genomes	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:10555224C>T	ENST00000304519.5	+	3	386	c.357C>T	c.(355-357)atC>atT	p.I119I	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	119										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		ACACCTTCATCCGCCACTACA	0.597000													23	18					0	0	0.002780	0	0
HSF2	3298	broad.mit.edu	37	6	122744005	122744005	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:122744005A>T	ENST00000452194.1	+	9	1160	c.973A>T	c.(973-975)Agt>Tgt	p.S325C	HSF2_ENST00000465214.1_3'UTR|HSF2_ENST00000368455.4_Missense_Mutation_p.S325C	NM_001135564.1	NP_001129036.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	325					response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		TCTCATGTCTAGTGCTGTCCA	0.463000													22	8					0	0	0.001882	0	0
MUC17	140453	broad.mit.edu	37	7	100678938	100678938	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:100678938G>C	ENST00000306151.4	+	3	4305	c.4241G>C	c.(4240-4242)aGc>aCc	p.S1414T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1414	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTGAGGCTAGCACCCTTTCA	0.512000													126	381					0	0	0.003610	0	0
CALHM1	255022	broad.mit.edu	37	10	105218463	105218463	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:105218463G>T	ENST00000329905.5	-	1	182	c.46C>A	c.(46-48)Cag>Aag	p.Q16K	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	16						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						AAGGACTCCTGGTTGGACTGC	0.602000													6	13					3.59834e-05	4.06569e-05	0.001168	1	0
NPAS4	266743	broad.mit.edu	37	11	66190315	66190315	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:66190315C>A	ENST00000311034.2	+	4	777	c.601C>A	c.(601-603)Cca>Aca	p.P201T		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	201					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						GAGACCCCGCCCAGGTCCTGG	0.622000													17	35					3.41278e-10	4.61328e-10	0.004990	1	0
RXFP2	122042	broad.mit.edu	37	13	32355867	32355867	+	Nonsense_Mutation	SNP	C	C	A	rs144275111		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:32355867C>A	ENST00000298386.2	+	10	916	c.845C>A	c.(844-846)tCg>tAg	p.S282*	RXFP2_ENST00000380314.1_Nonsense_Mutation_p.S282*	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	282						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TCGTGCGATTCGCTCACAGTG	0.323000													16	15					9.7654e-05	0.000108863	0.007413	1	0
NEU2	4759	broad.mit.edu	37	2	233897540	233897540	+	Silent	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:233897540C>G	ENST00000233840.3	+	1	159	c.159C>G	c.(157-159)gtC>gtG	p.V53V		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	53							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		AGCTGATTGTCCTGCGCAGAG	0.632000													23	4					0	0	0.001882	0	0
MIPEP	4285	broad.mit.edu	37	13	24415500	24415500	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:24415500C>A	ENST00000382172.3	-	11	1332	c.1234G>T	c.(1234-1236)Gtg>Ttg	p.V412L		NM_005932.3	NP_005923.2	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	412					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		TCGCTCCACACCTCTCCTTTT	0.493000													7	19					0.000157383	0.000174215	0.003080	1	0
ARMCX5	64860	broad.mit.edu	37	X	101857943	101857943	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:101857943G>T	ENST00000604957.1	+	1	3496	c.874G>T	c.(874-876)Ggg>Tgg	p.G292W	ARMCX5_ENST00000536530.1_Missense_Mutation_p.G292W|ARMCX5_ENST00000246174.2_Missense_Mutation_p.G292W|ARMCX5_ENST00000537008.1_Missense_Mutation_p.G292W|ARMCX5_ENST00000541409.1_Missense_Mutation_p.G292W|ARMCX5_ENST00000372742.1_Missense_Mutation_p.G292W|RP4-769N13.7_ENST00000602441.1_RNA|RP4-769N13.6_ENST00000476910.1_RNA	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	292							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						GGAAAAGTATGGGCCTAATCC	0.443000													61	54					6.60958e-23	1.23321e-22	0.003610	1	0
XKR7	343702	broad.mit.edu	37	20	30584609	30584609	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:30584609C>A	ENST00000217299.3	+	3	1263	c.1089C>A	c.(1087-1089)gtC>gtA	p.V363V		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	363						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)			ACAACATGGTCGTGGGCATCA	0.582000													10	17					0.00621372	0.00655584	0.006214	1	0
AFF2	2334	broad.mit.edu	37	X	148037572	148037572	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:148037572C>A	ENST00000370460.2	+	11	2476	c.1997C>A	c.(1996-1998)cCa>cAa	p.P666Q	AFF2_ENST00000286437.5_Missense_Mutation_p.P307Q|AFF2_ENST00000342251.3_Missense_Mutation_p.P633Q|AFF2_ENST00000370457.5_Missense_Mutation_p.P633Q	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	666					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCATGACCCACCAAGAGGC	0.498000													139	63					1.95558e-62	4.29259e-62	0.003610	1	0
ZNF208	7757	broad.mit.edu	37	19	22171598	22171598	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:22171598G>T	ENST00000397126.4	-	2	265	c.117C>A	c.(115-117)aaC>aaA	p.N39K	ZNF208_ENST00000599916.1_Missense_Mutation_p.N39K|ZNF208_ENST00000597040.1_Missense_Mutation_p.N7K|ZNF208_ENST00000601773.1_Missense_Mutation_p.N39K	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)				GGAAGACCAGGTTTCTGTAGT	0.423000													28	99					1.06801e-11	1.52819e-11	0.009535	1	0
PKIG	11142	broad.mit.edu	37	20	43246994	43246994	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:43246994A>T	ENST00000372889.1	+	6	805	c.220A>T	c.(220-222)Acc>Tcc	p.T74S	PKIG_ENST00000372891.3_Missense_Mutation_p.T74S|PKIG_ENST00000372886.1_Missense_Mutation_p.T74S|PKIG_ENST00000372894.3_Missense_Mutation_p.T74S|Z97053.1_ENST00000597250.1_Intron|PKIG_ENST00000372892.3_Missense_Mutation_p.T74S|PKIG_ENST00000372887.1_Intron|PKIG_ENST00000349959.3_Missense_Mutation_p.T74S|PKIG_ENST00000372882.3_Intron			Q9Y2B9	IPKG_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor gamma	74							cAMP-dependent protein kinase inhibitor activity|protein binding			breast(1)|urinary_tract(1)	2		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)			CGATGGGACCACCTCGTCTTG	0.597000													48	53					0	0	0.003610	0	0
SYN1	6853	broad.mit.edu	37	X	47466569	47466569	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:47466569G>T	ENST00000295987.7	-	2	530	c.406C>A	c.(406-408)Cat>Aat	p.H136N	SYN1_ENST00000340666.4_Missense_Mutation_p.H136N	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	136	C; actin-binding and synaptic-vesicle binding.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						ATTTCTCCATGGATCTTTTTC	0.428000													8	5					1.06961e-07	1.33162e-07	0.003080	1	0
EXO1	9156	broad.mit.edu	37	1	242021860	242021860	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:242021860G>T	ENST00000366548.3	+	8	1189	c.596G>T	c.(595-597)cGg>cTg	p.R199L	EXO1_ENST00000348581.5_Missense_Mutation_p.R199L|EXO1_ENST00000518483.1_Missense_Mutation_p.R199L|EXO1_ENST00000493702.1_Intron	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	199	I-domain.|Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GATCAAGCTCGGCTAGGAATG	0.423000								Editing and processing nucleases					40	5					2.68985e-26	5.23211e-26	0.003610	1	0
BAAT	570	broad.mit.edu	37	9	104133567	104133567	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:104133567G>A	ENST00000259407.2	-	2	228	c.120C>T	c.(118-120)aaC>aaT	p.N40N	BAAT_ENST00000395051.3_Silent_p.N40N	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	40					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	ACATGTCTCCGTTTTCATCTT	0.483000													10	41					0	0	0.008291	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													2	2					0	0	0.004672	0	0
IGHV2-70	28454	broad.mit.edu	37	14	107179003	107179003	+	RNA	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:107179003G>T	ENST00000390634.2	-	0	249																											GGGGCTGACGGATCCAGCTCA	0.542000													18	46					6.33239e-15	9.85656e-15	0.010504	1	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													3	40					0	0	0.009096	0	0
ITIH5	80760	broad.mit.edu	37	10	7621837	7621837	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:7621837G>A	ENST00000256861.6	-	9	1377	c.1299C>T	c.(1297-1299)atC>atT	p.I433I	ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Silent_p.I433I|ITIH5_ENST00000446830.2_Silent_p.I215I|ITIH5_ENST00000298441.6_Silent_p.I219I|ITIH5_ENST00000397145.2_Silent_p.I433I	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	433	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CAATGGTGAAGATGCAGACTT	0.617000													23	15					0	0	0.003330	0	0
THSD1	55901	broad.mit.edu	37	13	52972231	52972231	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:52972231T>C	ENST00000349258.4	-	3	701	c.157A>G	c.(157-159)Aat>Gat	p.N53D	THSD1_ENST00000544466.1_Intron|THSD1_ENST00000258613.4_Missense_Mutation_p.N53D	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	53						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		AGTGTCCCATTAGCACCATCA	0.473000													25	32					0	0	0.002780	0	0
ASTN1	460	broad.mit.edu	37	1	176993816	176993816	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:176993816G>T	ENST00000367654.2	-	6	1186	c.1173C>A	c.(1171-1173)atC>atA	p.I391I	ASTN1_ENST00000367657.3_Silent_p.I391I|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.I391I|ASTN1_ENST00000424564.2_Silent_p.I391I			O14525	ASTN1_HUMAN	astrotactin 1	391					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						CACAGCTGGTGATGCTGATCA	0.512000													23	23					1.50039e-11	2.13825e-11	0.001882	1	0
VEZF1	7716	broad.mit.edu	37	17	56060145	56060145	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:56060145C>A	ENST00000584396.1	-	2	704	c.616G>T	c.(616-618)Gac>Tac	p.D206Y	VEZF1_ENST00000581208.1_Missense_Mutation_p.D215Y			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	215					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GTCATCCGGTCCTTCCTCTTG	0.473000													26	87					8.58068e-18	1.45892e-17	0.007291	1	0
IGF2BP1	10642	broad.mit.edu	37	17	47115774	47115774	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:47115774G>A	ENST00000290341.3	+	6	980	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	IGF2BP1_ENST00000431824.2_Intron	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	216	KH 1.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				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						CAAGGAGGGGGCCACCATCCG	0.587000													7	14					0	0	0.001984	0	0
LAMB2	3913	broad.mit.edu	37	3	49167053	49167053	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:49167053C>A	ENST00000418109.1	-	12	1666	c.1502G>T	c.(1501-1503)gGa>gTa	p.G501V	LAMB2_ENST00000305544.4_Missense_Mutation_p.G501V	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	501	Laminin EGF-like 4.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCGGTCACATCCACGTCCAGT	0.567000													8	2					5.18039e-06	6.07593e-06	0.003080	1	0
PDGFRA	5156	broad.mit.edu	37	4	55133888	55133888	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:55133888G>A	ENST00000257290.5	+	7	1432	c.1101G>A	c.(1099-1101)gtG>gtA	p.V367V	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	367	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CCACTGATGTGGAAAAGATTC	0.443000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			9	4					0	0	0.006214	0	0
NONO	4841	broad.mit.edu	37	X	70517785	70517785	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:70517785T>A	ENST00000535149.1	+	7	1504	c.861T>A	c.(859-861)gaT>gaA	p.D287E	NONO_ENST00000373841.1_Missense_Mutation_p.D376E|NONO_ENST00000373856.3_Missense_Mutation_p.D376E|NONO_ENST00000276079.8_Missense_Mutation_p.D376E|NONO_ENST00000490044.1_3'UTR	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	376	DBHS.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CCTTCCCTGATGCGGTATATC	0.532000			T	TFE3	papillary renal cancer								5	15					0	0	0.000602	0	0
MYF5	4617	broad.mit.edu	37	12	81111175	81111175	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:81111175G>T	ENST00000228644.3	+	1	485	c.333G>T	c.(331-333)acG>acT	p.T111T		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	111	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GGTGTACCACGACCAACCCCA	0.592000													33	13					2.08457e-15	3.29534e-15	0.002096	1	0
PRX	57716	broad.mit.edu	37	19	40902280	40902280	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:40902280G>A	ENST00000324001.7	-	7	2249	c.1979C>T	c.(1978-1980)cCg>cTg	p.P660L	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	660	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGGACTTTCGGGAGCTGCAC	0.562000													118	113					0	0	0.003610	0	0
ABCC8	6833	broad.mit.edu	37	11	17438477	17438477	+	Splice_Site	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:17438477C>T	ENST00000302539.4	-	17	2383	c.2258_splice	c.e17+1	p.S753_splice	ABCC8_ENST00000389817.3_Splice_Site_p.S752_splice	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	752	ABC transporter 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)	AAGGCTGTACCTGGGGTCCTC	0.562000													8	18					0	0	0.008291	0	0
MROH5	389690	broad.mit.edu	37	8	142458055	142458055	+	RNA	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:142458055G>T	ENST00000430863.1	-	0	2851					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		CTTGGGCTAGGGCTCGCTGGG	0.647000													14	7					1.3612e-06	1.62748e-06	0.003163	1	0
PLCB3	5331	broad.mit.edu	37	11	64032518	64032518	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:64032518C>T	ENST00000540288.1	+	23	2851	c.2748C>T	c.(2746-2748)tcC>tcT	p.S916S	PLCB3_ENST00000279230.6_Silent_p.S916S|PLCB3_ENST00000325234.5_Silent_p.S849S	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	916					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TGGATGCCTCCCCCCGCCGGC	0.701000													7	4					0	0	0.001984	0	0
COL4A6	1288	broad.mit.edu	37	X	107422547	107422547	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:107422547G>A	ENST00000394872.2	-	26	2487	c.2256C>T	c.(2254-2256)gaC>gaT	p.D752D	COL4A6_ENST00000372216.4_Silent_p.D752D|COL4A6_ENST00000545689.1_Silent_p.D751D|COL4A6_ENST00000538570.1_Silent_p.D751D|COL4A6_ENST00000334504.7_Silent_p.D751D			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	752	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CACCAAAGATGTCACCAGTGG	0.547000									Alport syndrome with Diffuse Leiomyomatosis				19	60					0	0	0.001882	0	0
WNK2	65268	broad.mit.edu	37	9	96024316	96024316	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:96024316C>G	ENST00000297954.4	+	12	3287	c.3287C>G	c.(3286-3288)cCa>cGa	p.P1096R	WNK2_ENST00000395477.2_Missense_Mutation_p.P1096R|WNK2_ENST00000349097.3_Missense_Mutation_p.P708R|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.P708R|WNK2_ENST00000356055.3_5'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1096					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						CCAGCAAACCCACCGCTGCCT	0.672000													5	3					0	0	0.000602	0	0
SETD5	55209	broad.mit.edu	37	3	9517764	9517764	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:9517764G>C	ENST00000402466.1	+	24	4792	c.4024G>C	c.(4024-4026)Gga>Cga	p.G1342R	SETD5_ENST00000402198.1_Missense_Mutation_p.G1440R|SETD5_ENST00000407969.1_Missense_Mutation_p.G1459R|SETD5_ENST00000406341.1_Missense_Mutation_p.G1440R|SETD5_ENST00000302463.6_Missense_Mutation_p.G1342R			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1440	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GACTCAGACGGGACTTTCCTA	0.557000													12	0					0	0	0.000978	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072312	34072312	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:34072312C>A	ENST00000254466.6	-	6	2231	c.2204G>T	c.(2203-2205)aGc>aTc	p.S735I	GAS2L2_ENST00000587565.1_Missense_Mutation_p.S719I	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	735					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGCCTCCGGGCTGGCAGACAC	0.632000													76	76					8.79861e-51	1.91356e-50	0.003610	1	0
ECI2	10455	broad.mit.edu	37	6	4125573	4125573	+	Nonsense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:4125573T>A	ENST00000465828.1	-	7	901	c.616A>T	c.(616-618)Aag>Tag	p.K206*	C6orf201_ENST00000380175.4_Intron|ECI2_ENST00000380118.3_Nonsense_Mutation_p.K236*|ECI2_ENST00000380125.2_Nonsense_Mutation_p.K206*|ECI2_ENST00000413766.2_Nonsense_Mutation_p.K69*|C6orf201_ENST00000430835.2_3'UTR|ECI2_ENST00000361538.2_Nonsense_Mutation_p.K206*|C6orf201_ENST00000333388.5_Intron			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	236	ECH-like.				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						ATCAGAGGCTTAGGAAAATCT	0.463000													32	5					0	0	0.002445	0	0
MAB21L1	4081	broad.mit.edu	37	13	36049778	36049778	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:36049778G>T	ENST00000379919.4	-	1	1054	c.498C>A	c.(496-498)taC>taA	p.Y166*	NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	166					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		TCTGCACCACGTACCTATCTC	0.592000													16	18					1.5739e-10	2.16049e-10	0.004007	1	0
HGF	3082	broad.mit.edu	37	7	81355309	81355309	+	Silent	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:81355309T>A	ENST00000222390.5	-	9	1291	c.1065A>T	c.(1063-1065)cgA>cgT	p.R355R	HGF_ENST00000457544.2_Silent_p.R350R	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	355	Kringle 3.				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						CATCTGGATTTCGGCAGTAAT	0.428000													22	46					0	0	0.002299	0	0
CYLC1	1538	broad.mit.edu	37	X	83128432	83128432	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:83128432C>A	ENST00000329312.4	+	4	753	c.716C>A	c.(715-717)tCa>tAa	p.S239*		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	239					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	p.S238*(1)|p.S239*(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GAGATTTGCTCAGAAAATAGT	0.333000													11	28					4.68919e-08	5.89997e-08	0.008291	1	0
ANO7	50636	broad.mit.edu	37	2	242141710	242141710	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:242141710C>A	ENST00000274979.8	+	8	979	c.876C>A	c.(874-876)ccC>ccA	p.P292P	ANO7_ENST00000402430.3_Silent_p.P291P	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	292						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CCGCCTTCCCCCTGCATGACG	0.647000													44	7					8.86878e-18	1.5061e-17	0.003610	1	0
FAT2	2196	broad.mit.edu	37	5	150920179	150920179	+	Silent	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:150920179A>T	ENST00000261800.5	-	10	9000	c.8988T>A	c.(8986-8988)acT>acA	p.T2996T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2996	Cadherin 26.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGATCTCCACAGTGACCGAAG	0.532000													16	2					0	0	0.004007	0	0
SLC4A3	6508	broad.mit.edu	37	2	220502304	220502304	+	Splice_Site	SNP	T	T	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:220502304T>G	ENST00000358055.3	+	17	3049	c.2535_splice	c.e17-1	p.V846_splice	SLC4A3_ENST00000273063.6_Splice_Site_p.V873_splice|SLC4A3_ENST00000373762.3_Splice_Site_p.V873_splice|SLC4A3_ENST00000373760.2_Splice_Site_p.V846_splice|SLC4A3_ENST00000317151.3_Splice_Site_p.V846_splice			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	846	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACACACAGGTGTTCACAGAG	0.602000													28	4					0	0	0.007291	0	0
NPAP1	23742	broad.mit.edu	37	15	24922265	24922265	+	Silent	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:24922265T>A	ENST00000329468.2	+	1	1725	c.1251T>A	c.(1249-1251)acT>acA	p.T417T		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCACTTACACTTCCCAGGTCT	0.552000													18	32					0	0	0.010504	0	0
IRS1	3667	broad.mit.edu	37	2	227662185	227662185	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:227662185C>T	ENST00000305123.4	-	1	2290	c.1270G>A	c.(1270-1272)Ggt>Agt	p.G424S		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	424	Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GAGATGAAACCGCCATCGCTG	0.612000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	65	11					0	0	0.003610	0	0
PXDNL	137902	broad.mit.edu	37	8	52232505	52232505	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:52232505G>T	ENST00000356297.4	-	23	4438	c.4338C>A	c.(4336-4338)tgC>tgA	p.C1446*	RP11-401H2.1_ENST00000521294.1_RNA|PXDNL_ENST00000543296.1_3'UTR	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1446	VWFC.				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)				AAACTGGACAGCAGGTTCCTT	0.512000													9	5					9.31168e-06	1.07612e-05	0.001855	1	0
PCDHB3	56132	broad.mit.edu	37	5	140480990	140480990	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:140480990G>T	ENST00000231130.2	+	1	757	c.757G>T	c.(757-759)Gag>Tag	p.E253*	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		253	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGTTCTAGAGAATACCCC	0.448000													28	9					3.69857e-22	6.82886e-22	0.008361	1	0
WISP1	8840	broad.mit.edu	37	8	134225300	134225300	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:134225300C>A	ENST00000250160.6	+	2	369	c.263C>A	c.(262-264)aCg>aAg	p.T88K	WISP1_ENST00000377863.2_Intron|WISP1_ENST00000220856.6_Missense_Mutation_p.T88K|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000517423.1_Missense_Mutation_p.T88K	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	88	IGFBP N-terminal.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GACAACTGCACGGAGGCTGCC	0.637000													29	11					3.73988e-18	6.40478e-18	0.006320	1	0
NAPEPLD	222236	broad.mit.edu	37	7	102760610	102760610	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:102760610C>A	ENST00000417955.1	-	3	509	c.355G>T	c.(355-357)Gga>Tga	p.G119*	NAPEPLD_ENST00000465647.1_Nonsense_Mutation_p.G119*|NAPEPLD_ENST00000341533.4_Nonsense_Mutation_p.G119*|NAPEPLD_ENST00000455523.2_Nonsense_Mutation_p.G192*|NAPEPLD_ENST00000427257.1_Nonsense_Mutation_p.G119*			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	119					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TCCCTCACTCCAGCTTCTTCA	0.433000													31	71					3.00307e-07	3.67416e-07	0.008361	1	0
ZNF365	22891	broad.mit.edu	37	10	64219554	64219554	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:64219554G>C	ENST00000410046.3	+	4	1259	c.979G>C	c.(979-981)Gag>Cag	p.E327Q	ZNF365_ENST00000395255.3_Missense_Mutation_p.E327Q	NM_199451.2	NP_955523.1	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CCTGGAATTGGAGGTAAAGCC	0.557000													4	2					0	0	0.000602	0	0
C2CD2L	9854	broad.mit.edu	37	11	118982044	118982044	+	Silent	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:118982044A>T	ENST00000336702.3	+	6	1229	c.870A>T	c.(868-870)ctA>ctT	p.L290L	C2CD2L_ENST00000528586.1_Silent_p.L38L	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	290						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						GGTTATTCCTACGGCAGCTTC	0.562000													16	64					0	0	0.004990	0	0
SORCS1	114815	broad.mit.edu	37	10	108466362	108466362	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:108466362C>A	ENST00000263054.6	-	8	1181	c.1174G>T	c.(1174-1176)Gtg>Ttg	p.V392L	SORCS1_ENST00000344440.6_Missense_Mutation_p.V392L	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	392						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CGGTAGGACACGTAGTAATGT	0.463000													8	28					0.00829132	0.00872188	0.008291	1	0
SLITRK5	26050	broad.mit.edu	37	13	88327910	88327910	+	Silent	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:88327910C>G	ENST00000325089.6	+	2	486	c.267C>G	c.(265-267)tcC>tcG	p.S89S	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	89						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TCTTGTTGTCCGGAAACCTTT	0.458000													58	83					0	0	0.003610	0	0
FAT1	2195	broad.mit.edu	37	4	187518259	187518259	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:187518259C>A	ENST00000441802.2	-	25	12644	c.12435G>T	c.(12433-12435)acG>acT	p.T4145T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4145	EGF-like 5; calcium-binding (Potential).				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						AGGAGCCGTGCGTGTTCTCAC	0.582000										HNSCC(5;0.00058)			17	4					2.48551e-13	3.7217e-13	0.004990	1	0
CSRP2BP	57325	broad.mit.edu	37	20	18143305	18143305	+	Missense_Mutation	SNP	G	G	T	rs144863968		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:18143305G>T	ENST00000278816.2	+	7	2037	c.1387G>T	c.(1387-1389)Gtg>Ttg	p.V463L	CSRP2BP_ENST00000435364.2_Missense_Mutation_p.V463L|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.V335L|CSRP2BP_ENST00000377681.2_Missense_Mutation_p.V462L			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	463					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GTATACTCCCGTGAGCATCTA	0.512000													16	13					3.45872e-05	3.92357e-05	0.004007	1	0
SLFN12	55106	broad.mit.edu	37	17	33738442	33738442	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:33738442G>A	ENST00000394562.1	-	6	2175	c.1652C>T	c.(1651-1653)gCa>gTa	p.A551V	SLFN12_ENST00000460530.1_5'UTR|SLFN12_ENST00000452764.3_Missense_Mutation_p.A551V|SLFN12_ENST00000304905.5_Missense_Mutation_p.A551V			Q8IYM2	SLN12_HUMAN	schlafen family member 12	551							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TAGATTTTCTGCAAAGGAAAA	0.368000													42	30					0	0	0.006999	0	0
VCAN	1462	broad.mit.edu	37	5	82786165	82786165	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:82786165C>G	ENST00000265077.3	+	3	884	c.319C>G	c.(319-321)Ccc>Gcc	p.P107A	VCAN_ENST00000342785.4_Missense_Mutation_p.P107A|VCAN_ENST00000502527.2_Missense_Mutation_p.P107A|VCAN_ENST00000343200.5_Missense_Mutation_p.P107A|VCAN_ENST00000513984.1_Missense_Mutation_p.P107A|VCAN_ENST00000512590.2_Missense_Mutation_p.P59A	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	107	Ig-like V-type.				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)		GCCCACACATCCCGAGGCTGT	0.502000													24	10					0	0	0.002780	0	0
PKHD1	5314	broad.mit.edu	37	6	51890206	51890206	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:51890206G>A	ENST00000371117.3	-	32	4677	c.4402C>T	c.(4402-4404)Cta>Tta	p.L1468L	PKHD1_ENST00000340994.4_Silent_p.L1468L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1468	IPT/TIG 9.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCGCTGGTTAGCCCATTGACC	0.547000													15	35					0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179436924	179436924	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:179436924G>T	ENST00000589042.1	-	326	74159	c.73935C>A	c.(73933-73935)ggC>ggA	p.G24645G	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.G23004G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.G22077G|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.G15772G|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.G15580G|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.G15705G|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23004							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)			GAATTCGGCTGCCTCCATCAT	0.478000													39	3					3.09479e-21	5.63339e-21	0.006999	1	0
SPANXN3	139067	broad.mit.edu	37	X	142605142	142605142	+	Splice_Site	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:142605142C>A	ENST00000370503.2	-	1	161	c.78_splice	c.e1+1	p.E26_splice		NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	26										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					acaATCTTACCTCATCATTTT	0.463000													12	147					6.40141e-05	7.16433e-05	0.000978	1	0
PSMD7	5713	broad.mit.edu	37	16	74339560	74339560	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:74339560G>A	ENST00000219313.4	+	7	1044	c.904G>A	c.(904-906)Gag>Aag	p.E302K	PSMD7_ENST00000540379.1_Missense_Mutation_p.E225K|AC009120.6_ENST00000565313.1_RNA|AC009120.6_ENST00000566411.1_RNA	NM_002811.4	NP_002802.2	P51665	PSD7_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 7	302	Glu/Lys-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						ggataggaaagaggacaagga	0.388000													8	20					0	0	0.003080	0	0
GPR112	139378	broad.mit.edu	37	X	135431007	135431007	+	Silent	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:135431007T>A	ENST00000394143.1	+	6	5433	c.5142T>A	c.(5140-5142)acT>acA	p.T1714T	GPR112_ENST00000412101.1_Silent_p.T1509T|GPR112_ENST00000370652.1_Silent_p.T1714T|GPR112_ENST00000394141.1_Silent_p.T1509T|GPR112_ENST00000287534.4_Silent_p.T1651T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1714					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGGCTACAACTTTGGGCATAT	0.433000													88	59					0	0	0.003610	0	0
PADI6	353238	broad.mit.edu	37	1	17707550	17707550	+	RNA	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:17707550G>C	ENST00000434762.2	+	0	494							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)	AGAAAAAATGGATCTGGGGTC	0.507000													5	3					0	0	0.000602	0	0
NETO1	81832	broad.mit.edu	37	18	70526112	70526112	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:70526112C>T	ENST00000327305.6	-	4	1075	c.418G>A	c.(418-420)Gat>Aat	p.D140N	NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Missense_Mutation_p.D139N|NETO1_ENST00000299430.2_Missense_Mutation_p.D139N|NETO1_ENST00000583169.1_Missense_Mutation_p.D140N	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	140	CUB 1.			D -> A (in Ref. 3; AAH50329).	memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AGCTCTCCATCAGCAAAAAAT	0.338000													34	17					0	0	0.002836	0	0
CD8B	926	broad.mit.edu	37	2	87085357	87085357	+	Missense_Mutation	SNP	C	C	A	rs150505433		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:87085357C>A	ENST00000390655.6	-	2	284	c.226G>T	c.(226-228)Gca>Tca	p.A76S	CD8B_ENST00000431506.2_Intron|CD8B_ENST00000349455.3_Missense_Mutation_p.A76S|CD8B_ENST00000393761.2_Missense_Mutation_p.A76S|CD8B_ENST00000393759.2_Missense_Mutation_p.A76S|CD8B_ENST00000331469.2_Missense_Mutation_p.A76S	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	76	Ig-like V-type.				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						GTCCCTTTTGCGGAATCCCAG	0.547000													34	30					2.42023e-17	4.05661e-17	0.003271	1	0
LPPR4	9890	broad.mit.edu	37	1	99767365	99767365	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:99767365G>T	ENST00000370185.3	+	6	1375	c.878G>T	c.(877-879)tGc>tTc	p.C293F	LPPR4_ENST00000370184.1_Missense_Mutation_p.C135F|LPPR4_ENST00000457765.1_Intron	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		293							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)		GGAATAATCTGCGGGCTAACA	0.378000													30	8					1.88708e-17	3.18558e-17	0.008361	1	0
ABCA13	154664	broad.mit.edu	37	7	48522714	48522714	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:48522714C>A	ENST00000435803.1	+	47	13160	c.13136C>A	c.(13135-13137)gCt>gAt	p.A4379D	ABCA13_ENST00000544596.1_Missense_Mutation_p.A109D	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4379					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						CCCAGTGAAGCTGGAGGTGCA	0.373000													8	8					0.000157383	0.000174215	0.003080	1	0
LHFP	10186	broad.mit.edu	37	13	40175298	40175298	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:40175298C>A	ENST00000379589.3	-	2	518	c.56G>T	c.(55-57)tGt>tTt	p.C19F		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	19						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		GGTGGCAGCACAAAGAAAAGA	0.532000			T	HMGA2	lipoma								14	32					3.27435e-08	4.13081e-08	0.002450	1	0
RRM1	6240	broad.mit.edu	37	11	4156359	4156359	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:4156359G>T	ENST00000300738.5	+	18	2253	c.2049G>T	c.(2047-2049)gtG>gtT	p.V683V	RRM1_ENST00000423050.2_Silent_p.V586V|RRM1_ENST00000537197.1_Silent_p.V345V|RRM1_ENST00000534285.1_Silent_p.V461V	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	683					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	ATAAAACTGTGTGGGAAATCT	0.393000													20	29					5.26018e-13	7.82679e-13	0.001882	1	0
PTCRA	171558	broad.mit.edu	37	6	42883861	42883861	+	Silent	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:42883861C>G	ENST00000304672.1	+	1	135	c.54C>G	c.(52-54)ccC>ccG	p.P18P	PTCRA_ENST00000446507.1_Silent_p.P18P|PTCRA_ENST00000441198.1_Silent_p.P18P	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	18						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)			CAGCCCTACCCACAGGTGAGC	0.642000													18	7					0	0	0.010504	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073042	17073042	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:17073042C>A	ENST00000359963.3	-	1	658	c.399G>T	c.(397-399)cgG>cgT	p.R133R		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	133					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)				CGTAGGCCTCCCGGAGCTGCG	0.647000													8	21					0.000274275	0.000298482	0.004482	1	0
P2RY2	5029	broad.mit.edu	37	11	72945641	72945641	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:72945641G>A	ENST00000311131.2	+	3	904	c.437G>A	c.(436-438)cGg>cAg	p.R146Q	P2RY2_ENST00000393597.2_Missense_Mutation_p.R146Q|P2RY2_ENST00000393596.2_Missense_Mutation_p.R146Q	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	146					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CGCTGGGGCCGGGCCCGCTAC	0.687000													26	69					0	0	0.003954	0	0
UNC13A	23025	broad.mit.edu	37	19	17756795	17756795	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:17756795C>G	ENST00000428389.2	-	19	2433	c.2434G>C	c.(2434-2436)Gag>Cag	p.E812Q	UNC13A_ENST00000552293.1_Missense_Mutation_p.E724Q|UNC13A_ENST00000551649.1_Missense_Mutation_p.E724Q|UNC13A_ENST00000519716.2_Missense_Mutation_p.E724Q|UNC13A_ENST00000550896.1_Missense_Mutation_p.E722Q|UNC13A_ENST00000252773.7_Missense_Mutation_p.E724Q			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	724					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AAATTCTCCTCCCACACCGGG	0.567000													4	1					0	0	0.009096	0	0
FGF13	2258	broad.mit.edu	37	X	137715101	137715101	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:137715101G>T	ENST00000315930.6	-	5	1309	c.648C>A	c.(646-648)tcC>tcA	p.S216S	FGF13_ENST00000441825.2_Silent_p.S197S|FGF13_ENST00000370603.3_Silent_p.S226S|FGF13_ENST00000305414.4_Silent_p.S163S|FGF13_ENST00000541469.1_Silent_p.S170S	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	216					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TTCCAGATCGGGAGAACTCCG	0.517000													27	85					2.12542e-12	3.11026e-12	0.006320	1	0
FER	2241	broad.mit.edu	37	5	108133938	108133938	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:108133938G>T	ENST00000281092.4	+	3	439	c.55G>T	c.(55-57)Gac>Tac	p.D19Y	FER_ENST00000536402.1_Missense_Mutation_p.D19Y|FER_ENST00000438717.2_5'UTR|FER_ENST00000502752.1_3'UTR	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	19	FCH.|Important for interaction with membranes containing phosphoinositides.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AAAATTGCAAGACTGGGAATT	0.388000													19	5					1.56452e-12	2.2942e-12	0.007413	1	0
MMP7	4316	broad.mit.edu	37	11	102398608	102398608	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:102398608C>A	ENST00000260227.4	-	2	267	c.215G>T	c.(214-216)gGa>gTa	p.G72V		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	72					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		GTTTAACATTCCAGTTATAGG	0.393000													23	24					3.10358e-05	3.532e-05	0.002299	1	0
ARRB1	408	broad.mit.edu	37	11	74983955	74983955	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:74983955C>A	ENST00000420843.2	-	12	1079	c.982G>T	c.(982-984)Gtg>Ttg	p.V328L	ARRB1_ENST00000360025.3_Missense_Mutation_p.V328L|ARRB1_ENST00000393505.4_Missense_Mutation_p.V328L	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	328	Interaction with TRAF6.				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CGAGACACCACCAGCTTCACT	0.617000													29	16					1.06647e-15	1.70684e-15	0.003755	1	0
TBX22	50945	broad.mit.edu	37	X	79286260	79286260	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:79286260C>A	ENST00000442340.1	+	9	1343	c.853C>A	c.(853-855)Cca>Aca	p.P285T	TBX22_ENST00000373291.1_Missense_Mutation_p.P285T|TBX22_ENST00000373294.5_Missense_Mutation_p.P405T|TBX22_ENST00000373296.3_Missense_Mutation_p.P405T	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	405					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTCTTTAGCCCCACTCATGAT	0.443000													133	85					1.13993e-56	2.49448e-56	0.003610	1	0
GIF	2694	broad.mit.edu	37	11	59611418	59611418	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:59611418C>A	ENST00000541311.1	-	2	349	c.115G>T	c.(115-117)Gcc>Tcc	p.A39S	GIF_ENST00000257248.2_Missense_Mutation_p.A64S			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	64					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						TAGGCTCCGGCCAGATTCATG	0.537000													17	30					5.01169e-05	5.62675e-05	0.004990	1	0
ELMO1	9844	broad.mit.edu	37	7	37382250	37382250	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:37382250C>A	ENST00000310758.4	-	2	692	c.45G>T	c.(43-45)ccG>ccT	p.P15P	ELMO1_ENST00000442504.1_Silent_p.P15P|ELMO1_ENST00000448602.1_Silent_p.P15P	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	15					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GGTAGGCGCCCGGCCATTCTA	0.478000													41	88					2.26627e-22	4.21177e-22	0.007835	1	0
TYW1B	441250	broad.mit.edu	37	7	72159680	72159680	+	RNA	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:72159680G>C	ENST00000438125.1	-	0	1116							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										TTCTTACCTTGACTGCCAAGG	0.398000													11	42					0	0	0.008291	0	0
TMEFF2	23671	broad.mit.edu	37	2	192818493	192818493	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:192818493G>T	ENST00000392314.1	-	9	1331	c.940C>A	c.(940-942)Cct>Act	p.P314T	AC098617.1_ENST00000424116.2_RNA|AC098617.1_ENST00000428980.2_RNA|TMEFF2_ENST00000272771.5_Missense_Mutation_p.P314T			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	314	Required for shedding.					extracellular region|integral to membrane		p.P314S(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			AATCGTACAGGACCGGGAACA	0.443000													58	5					4.33383e-22	7.97065e-22	0.003610	1	0
NPHS2	7827	broad.mit.edu	37	1	179544726	179544726	+	Splice_Site	SNP	C	C	A	rs74315345		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:179544726C>A	ENST00000367615.4	-	1	342	c.274_splice	c.e1+1	p.G92_splice	NPHS2_ENST00000367616.4_Splice_Site_p.G92_splice	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	92			G -> C (in NPHS2).		excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GAATCCGTACCTTCCTCGGGC	0.632000													15	17					1.45105e-14	2.24383e-14	0.006122	1	0
DDX6	1656	broad.mit.edu	37	11	118650398	118650398	+	Silent	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:118650398T>C	ENST00000264018.4	-	4	617	c.312A>G	c.(310-312)aaA>aaG	p.K104K	DDX6_ENST00000534980.1_Silent_p.K104K|DDX6_ENST00000526070.2_Silent_p.K104K	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	104					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		GTAACTCCCGTTTCAAACAGT	0.343000			T	IGH@	B-NHL								8	6					0	0	0.004482	0	0
PHLDB1	23187	broad.mit.edu	37	11	118498106	118498106	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:118498106G>T	ENST00000361417.2	+	7	978	c.567G>T	c.(565-567)ctG>ctT	p.L189L	PHLDB1_ENST00000356063.5_Silent_p.L189L	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	189										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACAGTTCCCTGGTGAGCTCTA	0.562000													17	29					3.41278e-10	4.61328e-10	0.004990	1	0
AMER1	139285	broad.mit.edu	37	X	63412928	63412928	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:63412928C>A	ENST00000330258.3	-	2	511	c.239G>T	c.(238-240)gGt>gTt	p.G80V	AMER1_ENST00000374869.3_Missense_Mutation_p.G80V|AMER1_ENST00000403336.1_Missense_Mutation_p.G80V	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									TTTCCCAGAACCTTTGCTCCG	0.532000													29	5					3.73988e-18	6.40478e-18	0.006320	1	0
ZNF277	11179	broad.mit.edu	37	7	111926927	111926927	+	Splice_Site	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:111926927G>C	ENST00000421043.1	+	2	111		c.e2-1		ZNF277_ENST00000450657.1_Splice_Site|ZNF277_ENST00000361822.3_Splice_Site			Q9NRM2	ZN277_HUMAN	zinc finger protein 277							nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						GTCTATTCCAGACAGTAAGGA	0.403000													5	12					0	0	0.000602	0	0
ZNF260	339324	broad.mit.edu	37	19	37005495	37005495	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:37005495C>G	ENST00000523638.1	-	3	1767	c.646G>C	c.(646-648)Gga>Cga	p.G216R	ZNF260_ENST00000588993.1_Missense_Mutation_p.G216R|ZNF260_ENST00000593142.1_Missense_Mutation_p.G216R|ZNF260_ENST00000592282.1_Missense_Mutation_p.G216R	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	216					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					GGTTTCTCTCCAGTATGGATT	0.403000													63	58					0	0	0.003610	0	0
TECPR2	9895	broad.mit.edu	37	14	102874864	102874864	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:102874864A>G	ENST00000359520.7	+	4	614	c.388A>G	c.(388-390)Att>Gtt	p.I130V	TECPR2_ENST00000558678.1_Missense_Mutation_p.I130V|TECPR2_ENST00000561228.1_3'UTR	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	130							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CAAAAATAGCATTACAGCTCT	0.378000													70	8					0	0	0.003610	0	0
OR4D9	390199	broad.mit.edu	37	11	59283051	59283051	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:59283051G>C	ENST00000329328.3	+	1	666	c.666G>C	c.(664-666)ttG>ttC	p.L222F		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CGGTCATCTTGATGATGCTGA	0.498000													82	68					0	0	0.003610	0	0
UBR5	51366	broad.mit.edu	37	8	103293656	103293656	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:103293656C>T	ENST00000520539.1	-	41	6394	c.5788G>A	c.(5788-5790)Gat>Aat	p.D1930N	UBR5_ENST00000521922.1_Missense_Mutation_p.D1924N|UBR5_ENST00000220959.4_Missense_Mutation_p.D1930N	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1930					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GAATGCTCATCATTATGAGAC	0.413000													14	49					0	0	0.002450	0	0
TENM2	57451	broad.mit.edu	37	5	167653201	167653201	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:167653201C>A	ENST00000519204.1	+	23	4972	c.4854C>A	c.(4852-4854)aaC>aaA	p.N1618K	TENM2_ENST00000403607.2_Missense_Mutation_p.N1563K|TENM2_ENST00000545108.1_Missense_Mutation_p.N1738K|TENM2_ENST00000518659.1_Missense_Mutation_p.N1739K|TENM2_ENST00000520394.1_Missense_Mutation_p.N1500K					teneurin transmembrane protein 2																		AGAACTCCAACCGTGATGATG	0.542000													10	2					3.86212e-05	4.34642e-05	0.008291	1	0
WDR61	80349	broad.mit.edu	37	15	78585583	78585583	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:78585583C>A	ENST00000267973.2	-	4	343	c.72G>T	c.(70-72)tgG>tgT	p.W24C	WDR61_ENST00000558311.1_Missense_Mutation_p.W24C|WDR61_ENST00000558459.1_Intron			Q9GZS3	WDR61_HUMAN	WD repeat domain 61	24							protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						TGTTTGTCCCCCAAGCAACTG	0.458000													21	54					1.00905e-13	1.52378e-13	0.008871	1	0
DYSF	8291	broad.mit.edu	37	2	71797024	71797024	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:71797024G>T	ENST00000258104.3	+	27	3162	c.2885G>T	c.(2884-2886)gGa>gTa	p.G962V	DYSF_ENST00000394120.2_Missense_Mutation_p.G963V|DYSF_ENST00000409651.1_Missense_Mutation_p.G994V|DYSF_ENST00000429174.2_Missense_Mutation_p.G962V|DYSF_ENST00000410020.3_Missense_Mutation_p.G980V|DYSF_ENST00000413539.2_Missense_Mutation_p.G993V|DYSF_ENST00000410041.1_Missense_Mutation_p.G980V|DYSF_ENST00000409582.3_Missense_Mutation_p.G979V|DYSF_ENST00000409744.1_Missense_Mutation_p.G949V|DYSF_ENST00000409366.1_Missense_Mutation_p.G963V|DYSF_ENST00000409762.1_Missense_Mutation_p.G979V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	962						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						CGGCTTCCCGGAGGCCAGTGG	0.577000													7	28					0.00621372	0.00655584	0.006214	1	0
TMTC2	160335	broad.mit.edu	37	12	83251126	83251126	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:83251126G>T	ENST00000549919.1	+	3	2208	c.403G>T	c.(403-405)Gat>Tat	p.D135Y	TMTC2_ENST00000321196.3_Missense_Mutation_p.D141Y|TMTC2_ENST00000548305.1_Missense_Mutation_p.D141Y			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	141						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						GGGACGAGCCGATGTCGGGGC	0.542000													31	2					3.03874e-20	5.44057e-20	0.003271	1	0
OR5L2	26338	broad.mit.edu	37	11	55594843	55594843	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:55594843A>G	ENST00000378397.1	+	1	149	c.149A>G	c.(148-150)cAg>cGg	p.Q50R		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GCACTGATTCAGGTCAGCTCT	0.488000										HNSCC(27;0.073)			68	132					0	0	0.003610	0	0
NALCN	259232	broad.mit.edu	37	13	102051437	102051437	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:102051437G>T	ENST00000251127.6	-	2	122	c.41C>A	c.(40-42)cCa>cAa	p.P14Q	NALCN_ENST00000376200.5_Missense_Mutation_p.P14Q|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.P14Q	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	14						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)					GTCAGTGACTGGCTGGGCTTC	0.453000													13	24					1.3612e-06	1.62748e-06	0.003163	1	0
NF1	4763	broad.mit.edu	37	17	29562765	29562765	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:29562765G>T	ENST00000358273.4	+	28	4228	c.3845G>T	c.(3844-3846)aGt>aTt	p.S1282I	NF1_ENST00000356175.3_Missense_Mutation_p.S1282I	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1282	Ras-GAP.				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)	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)		AGCTTGGCCAGTAAAATAATG	0.408000			"""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)			80	52					9.42754e-34	1.95729e-33	0.003610	1	0
UBA6	55236	broad.mit.edu	37	4	68539437	68539437	+	Missense_Mutation	SNP	C	C	T	rs147806141	byFrequency	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:68539437C>T	ENST00000322244.4	-	7	583	c.524G>A	c.(523-525)cGt>cAt	p.R175H	UBA6_ENST00000420827.2_Missense_Mutation_p.R175H	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	175					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GCACTGAGAACGGCAAAAGTC	0.318000													46	8					0	0	0.003610	0	0
HCN4	10021	broad.mit.edu	37	15	73616435	73616435	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:73616435C>T	ENST00000261917.3	-	7	3131	c.2138G>A	c.(2137-2139)cGc>cAc	p.R713H		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	713					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CTCACCAATGCGGTCCAGGCG	0.652000													19	27					0	0	0.006122	0	0
FRG1	2483	broad.mit.edu	37	4	190882991	190882991	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:190882991G>T	ENST00000226798.4	+	8	866	c.644G>T	c.(643-645)aGc>aTc	p.S215I		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	215					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		p.S215N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AAATTTCAGAGCTTCCAAGAC	0.294000													69	15					2.42712e-22	4.50479e-22	0.003610	1	0
PLIN2	123	broad.mit.edu	37	9	19126234	19126234	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:19126234C>A	ENST00000276914.2	-	3	283	c.104G>T	c.(103-105)aGt>aTt	p.S35I	PLIN2_ENST00000411567.1_Missense_Mutation_p.S35I|PLIN2_ENST00000380464.3_Missense_Mutation_p.S35I|PLIN2_ENST00000380465.3_Missense_Mutation_p.S35I	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	35					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						GTCCTTTGTACTGAGATAGGC	0.542000													18	40					8.00594e-06	9.27486e-06	0.007413	1	0
OR5M9	390162	broad.mit.edu	37	11	56230340	56230340	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:56230340G>T	ENST00000279791.1	-	1	537	c.538C>A	c.(538-540)Ccc>Acc	p.P180T		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ATGAGAGGGGGATCTGCACAA	0.408000													20	12					1.00905e-13	1.52378e-13	0.008871	1	0
RELN	5649	broad.mit.edu	37	7	103202352	103202352	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:103202352C>A	ENST00000428762.1	-	35	5418	c.5259G>T	c.(5257-5259)ggG>ggT	p.G1753G	RELN_ENST00000343529.5_Silent_p.G1753G|RELN_ENST00000424685.2_Silent_p.G1753G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1753					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)		AGGAATCAGCCCCCACAGTGT	0.478000													10	18					2.17888e-05	2.48764e-05	0.006214	1	0
MAATS1	89876	broad.mit.edu	37	3	119451224	119451224	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:119451224G>T	ENST00000273390.5	+	9	1179	c.1102G>T	c.(1102-1104)Gca>Tca	p.A368S		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		TTCTGATTATGCATCACAGGT	0.378000													72	7					3.94896e-32	8.11541e-32	0.003610	1	0
IL6R	3570	broad.mit.edu	37	1	154422387	154422387	+	Splice_Site	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:154422387G>C	ENST00000368485.3	+	8	1434	c.996_splice	c.e8-1	p.A333_splice	IL6R_ENST00000507256.1_3'UTR|IL6R_ENST00000344086.4_Splice_Site_p.A333_splice	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	333					acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCTCTTTTAGGCACTTACTAC	0.458000													15	22					0	0	0.004990	0	0
RPLP1	6176	broad.mit.edu	37	15	69747561	69747561	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:69747561G>T	ENST00000260379.6	+	3	365	c.200G>T	c.(199-201)gGa>gTa	p.G67V	RPLP1_ENST00000560274.1_Intron|RPLP1_ENST00000357790.5_Missense_Mutation_p.G42V	NM_001003.2	NP_000994.1	P05386	RLA1_HUMAN	ribosomal protein, large, P1	67					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			ovary(1)	1						GGGGCCGGTGGACCTGCTCCA	0.562000													21	27					1.64113e-05	1.88279e-05	0.010504	1	0
HTR2A	3356	broad.mit.edu	37	13	47469908	47469908	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:47469908C>A	ENST00000378688.4	-	1	265	c.134G>T	c.(133-135)tGg>tTg	p.W45L	HTR2A_ENST00000543956.1_Intron|HTR2A_ENST00000542664.1_Missense_Mutation_p.W45L			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	45					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GTCGACTGTCCAGTTAAATGC	0.448000													14	25					2.31682e-05	2.63876e-05	0.003163	1	0
ASB17	127247	broad.mit.edu	37	1	76397963	76397963	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:76397963G>T	ENST00000284142.6	-	1	153	c.14C>A	c.(13-15)aCt>aAt	p.T5N		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	5					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						ACATAATTTAGTAGATTTACT	0.363000													14	7					4.36969e-10	5.85654e-10	0.001855	1	0
SORCS3	22986	broad.mit.edu	37	10	106802854	106802854	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:106802854G>T	ENST00000369701.3	+	5	1223	c.996G>T	c.(994-996)atG>atT	p.M332I		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	332						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)		GGCAACTCATGCATGAACGCA	0.433000													32	33					9.93527e-08	1.24125e-07	0.002836	1	0
EMD	2010	broad.mit.edu	37	X	153608666	153608666	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:153608666C>A	ENST00000369842.4	+	4	626	c.338C>A	c.(337-339)cCg>cAg	p.P113Q	EMD_ENST00000369835.3_Missense_Mutation_p.P78Q|EMD_ENST00000492448.1_3'UTR	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	113	Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					TCTGCCGGCCCGTCCAGGGCT	0.592000													84	37					1.67174e-50	3.63022e-50	0.003610	1	0
CD38	952	broad.mit.edu	37	4	15841733	15841733	+	Silent	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:15841733A>G	ENST00000226279.2	+	6	881	c.744A>G	c.(742-744)gaA>gaG	p.E248E		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	248					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GTGGAAGAGAAGATTCCAGGT	0.413000													50	9					0	0	0.003610	0	0
CALB2	794	broad.mit.edu	37	16	71418248	71418248	+	Silent	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:71418248G>C	ENST00000302628.4	+	8	617	c.540G>C	c.(538-540)ctG>ctC	p.L180L	CALB2_ENST00000349553.5_Intron	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	180	EF-hand 4.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				CCAGACTCCTGCCTGTCCAGG	0.547000													30	38					0	0	0.007291	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64607593	64607593	+	Splice_Site	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:64607593T>A	ENST00000342711.5	-	5	579	c.581_splice	c.e5+1	p.R194_splice		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	194	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GGGCCCCACCTGTGGACATAA	0.667000													11	9					0	0	0.008291	0	0
WASL	8976	broad.mit.edu	37	7	123334896	123334896	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:123334896C>T	ENST00000223023.4	-	8	1031	c.699G>A	c.(697-699)aaG>aaA	p.K233K		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	233					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						CGAAAAGATTCTTCAATTCTG	0.299000													104	78					0	0	0.003610	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75407866	75407866	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:75407866G>T	ENST00000394810.2	-	4	1693	c.1544C>A	c.(1543-1545)cCc>cAc	p.P515H	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.P291H|SYNPO2L_ENST00000372872.4_Missense_Mutation_p.P515H	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	515	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CAGAGGGGTGGGCCCCTGCGA	0.677000													5	4					1.23904e-05	1.42495e-05	0.000602	1	0
CSMD3	114788	broad.mit.edu	37	8	113347615	113347615	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:113347615G>C	ENST00000297405.5	-	45	7352	c.7108C>G	c.(7108-7110)Cta>Gta	p.L2370V	CSMD3_ENST00000455883.2_Missense_Mutation_p.L2266V|CSMD3_ENST00000352409.3_Missense_Mutation_p.L2300V|CSMD3_ENST00000343508.3_Missense_Mutation_p.L2330V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2370	CUB 13.					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						AATTTGATTAGAATCTGATTT	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	12					0	0	0.002450	0	0
RPH3A	22895	broad.mit.edu	37	12	113307593	113307593	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:113307593C>G	ENST00000389385.4	+	9	1137	c.640C>G	c.(640-642)Cag>Gag	p.Q214E	RPH3A_ENST00000415485.3_Missense_Mutation_p.Q214E|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000447659.2_Missense_Mutation_p.Q165E|RPH3A_ENST00000543106.2_Missense_Mutation_p.Q214E|RPH3A_ENST00000420983.2_Missense_Mutation_p.Q214E|RPH3A_ENST00000548866.1_Missense_Mutation_p.Q165E|RPH3A_ENST00000551052.1_Missense_Mutation_p.Q210E	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	214	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GGGCCCGGGTCAGAAGACAGG	0.453000													59	30					0	0	0.003610	0	0
KMT2A	4297	broad.mit.edu	37	11	118376564	118376564	+	Silent	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:118376564A>T	ENST00000534358.1	+	27	9980	c.9957A>T	c.(9955-9957)acA>acT	p.T3319T	KMT2A_ENST00000389506.5_Silent_p.T3316T|KMT2A_ENST00000354520.4_Silent_p.T3278T	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CGGCAGGCACATCAACAATAA	0.478000													40	31					0	0	0.006230	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43851102	43851102	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:43851102G>A	ENST00000420765.1	-	29	3458	c.3276C>T	c.(3274-3276)acC>acT	p.T1092T	PPIP5K1_ENST00000381879.4_Silent_p.T1068T|PPIP5K1_ENST00000381885.1_Silent_p.T1088T|PPIP5K1_ENST00000334933.4_Silent_p.T1067T|PPIP5K1_ENST00000396923.3_Silent_p.T1092T|PPIP5K1_ENST00000348806.6_Silent_p.T1025T|PPIP5K1_ENST00000360135.4_Silent_p.T1025T|PPIP5K1_ENST00000360301.4_Silent_p.T1067T	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1092					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						GAGGGTAGATGGTAGGCACCA	0.507000													27	44					0	0	0.006320	0	0
FLNA	2316	broad.mit.edu	37	X	153587460	153587460	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:153587460G>T	ENST00000422373.1	-	26	4614	c.4366C>A	c.(4366-4368)Ccc>Acc	p.P1456T	FLNA_ENST00000369850.3_Missense_Mutation_p.P1456T|FLNA_ENST00000360319.4_Missense_Mutation_p.P1456T|FLNA_ENST00000344736.4_Missense_Mutation_p.P1456T	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1456					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					CTCAGGCCGGGCCCAGAGCAC	0.597000													181	116					3.54974e-74	7.85263e-74	0.003610	1	0
GPR32	2854	broad.mit.edu	37	19	51274689	51274689	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:51274689G>C	ENST00000270590.4	+	1	969	c.832G>C	c.(832-834)Gtc>Ctc	p.V278L		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	278						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GGTGCTGTTGGTCCATCTGTG	0.597000													42	48					0	0	0.008740	0	0
PATZ1	23598	broad.mit.edu	37	22	31741545	31741545	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:31741545T>C	ENST00000266269.5	-	1	673	c.44A>G	c.(43-45)tAc>tGc	p.Y15C	PATZ1_ENST00000215919.3_Missense_Mutation_p.Y15C|PATZ1_ENST00000351933.4_Missense_Mutation_p.Y15C|PATZ1_ENST00000405309.3_Missense_Mutation_p.Y15C	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	15					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CTGGTATGTGTAGCAGCCAGA	0.682000													10	18					0	0	0.001855	0	0
KLHDC10	23008	broad.mit.edu	37	7	129765756	129765756	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:129765756C>T	ENST00000335420.5	+	7	1050	c.916C>T	c.(916-918)Ccc>Tcc	p.P306S		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	306										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						TGCAACAAAACCCCATGAAAA	0.269000													10	10					0	0	0.001368	0	0
TBX5	6910	broad.mit.edu	37	12	114793770	114793770	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:114793770C>A	ENST00000310346.4	-	9	1790	c.1124G>T	c.(1123-1125)cGg>cTg	p.R375L	TBX5_ENST00000405440.2_Missense_Mutation_p.R375L|TBX5_ENST00000349716.5_Missense_Mutation_p.R325L	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	375					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GCAAGCTTGCCGCTGTGCCGA	0.592000													47	28					1.63429e-32	3.37325e-32	0.003610	1	0
GSTT2	2953	broad.mit.edu	37	22	24323170	24323170	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:24323170C>T	ENST00000215780.5	+	2	194	c.144C>T	c.(142-144)atC>atT	p.I48I	GSTT2_ENST00000402588.3_Silent_p.I48I	NM_000854.3	NP_000845.1	P0CG30	GSTT2_HUMAN	glutathione S-transferase theta 2	48	GST N-terminal.					cytoplasm	glutathione transferase activity			lung(1)	1						TCTTGCAGATCAACAGCCTGG	0.547000													33	68					0	0	0.003610	0	0
CAND1	55832	broad.mit.edu	37	12	67699358	67699358	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:67699358G>T	ENST00000545606.1	+	10	2347	c.1910G>T	c.(1909-1911)gGg>gTg	p.G637V		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	637					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CTGATTGCTGGGTCACCTTTG	0.408000													57	8					2.93687e-30	5.95778e-30	0.003610	1	0
THBS2	7058	broad.mit.edu	37	6	169648861	169648861	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:169648861G>T	ENST00000366787.3	-	4	509	c.260C>A	c.(259-261)aCg>aAg	p.T87K		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	87	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.T87M(1)		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)		GAGCTGGGCCGTGAGGAAGAA	0.617000													31	8					1.39806e-14	2.16424e-14	0.008361	1	0
PSG4	5672	broad.mit.edu	37	19	43702180	43702180	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:43702180G>A	ENST00000405312.3	-	3	915	c.678C>T	c.(676-678)agC>agT	p.S226S	PSG4_ENST00000244295.9_Silent_p.S226S|PSG4_ENST00000433626.2_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	226	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGTCACTGCGGCTGGCACTCA	0.522000													45	162					0	0	0.003610	0	0
ZNF530	348327	broad.mit.edu	37	19	58118528	58118528	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:58118528G>A	ENST00000332854.6	+	3	1855	c.1635G>A	c.(1633-1635)agG>agA	p.R545R	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	545					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTGGAGAAAGGCCTTATGAGT	0.448000													21	46					0	0	0.002299	0	0
CLCA4	22802	broad.mit.edu	37	1	87036808	87036808	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:87036808C>A	ENST00000370563.3	+	8	1273	c.1231C>A	c.(1231-1233)Ctg>Atg	p.L411M	CLCA4_ENST00000496322.1_3'UTR|CLCA4_ENST00000263723.5_Missense_Mutation_p.L124M	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	411	VWFA.					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)		AGTACTGCTGCTGACTGATGG	0.433000													50	16					5.18031e-10	6.93644e-10	0.003610	1	0
PENK	5179	broad.mit.edu	37	8	57354422	57354422	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:57354422C>A	ENST00000314922.3	-	2	289	c.213G>T	c.(211-213)ctG>ctT	p.L71L	PENK_ENST00000451791.2_Silent_p.L71L|PENK_ENST00000523274.1_5'UTR	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	71					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CTGGTTTGGACAGCTGCAGGA	0.463000													39	9					1.02591e-13	1.54759e-13	0.002522	1	0
GLI2	2736	broad.mit.edu	37	2	121746742	121746742	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:121746742G>C	ENST00000452319.1	+	14	3312	c.3252G>C	c.(3250-3252)caG>caC	p.Q1084H	GLI2_ENST00000361492.4_Missense_Mutation_p.Q1084H|GLI2_ENST00000314490.11_Missense_Mutation_p.Q756H			P10070	GLI2_HUMAN	GLI family zinc finger 2	1084					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)				GCACCGGGCAGGTGTATCCCA	0.672000													57	10					0	0	0.003610	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724269	38724269	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:38724269G>T	ENST00000342213.2	-	1	1305	c.959C>A	c.(958-960)cCa>cAa	p.P320Q		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	320						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GACCCTGATTGGCCATGTTCT	0.612000													60	11					7.73544e-29	1.55366e-28	0.003610	1	0
OR51Q1	390061	broad.mit.edu	37	11	5444288	5444288	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:5444288C>T	ENST00000300778.4	+	1	948	c.858C>T	c.(856-858)ccC>ccT	p.P286P	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTGGCACCCCCGGTGATGA	0.448000													23	52					0	0	0.002780	0	0
AMER3	205147	broad.mit.edu	37	2	131520865	131520865	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:131520865C>T	ENST00000423981.1	+	2	1330	c.1220C>T	c.(1219-1221)aCt>aTt	p.T407I	AMER3_ENST00000321420.4_Missense_Mutation_p.T407I	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																		AGCCCAGGCACTCCTGCCGCC	0.617000													44	3					0	0	0.003610	0	0
KDM2B	84678	broad.mit.edu	37	12	122012500	122012500	+	Splice_Site	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:122012500T>C	ENST00000377069.4	-	4	664		c.e4-2		KDM2B_ENST00000377071.4_Splice_Site|KDM2B_ENST00000536437.1_Splice_Site|KDM2B_ENST00000538046.2_Splice_Site	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B						embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCAGGCATCCTGGGGAAAGAG	0.547000													5	38					0	0	0.001984	0	0
CACNA1B	774	broad.mit.edu	37	9	141016023	141016023	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:141016023C>A	ENST00000277549.5	+	47	6743	c.4174C>A	c.(4174-4176)Cgc>Agc	p.R1392S	CACNA1B_ENST00000371372.1_Missense_Mutation_p.R2198S|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R2196S|CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R2199S|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R2197S			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2198					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)	CCTGACTCCCCGCCCCAGCAT	0.687000													11	8					3.86212e-05	4.34642e-05	0.008291	1	0
ATP6V1C1	528	broad.mit.edu	37	8	104053095	104053095	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:104053095G>T	ENST00000395862.3	+	2	190	c.31G>T	c.(31-33)Ggg>Tgg	p.G11W	ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.G11W|ATP6V1C1_ENST00000521514.1_Intron|ATP6V1C1_ENST00000518857.1_Intron	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	11					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			ATCTGCTCCTGGGGAGAAAAC	0.358000													21	11					3.8784e-16	6.25663e-16	0.001882	1	0
CCDC73	493860	broad.mit.edu	37	11	32636042	32636042	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:32636042G>T	ENST00000335185.5	-	16	1865	c.1822C>A	c.(1822-1824)Cca>Aca	p.P608T		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	608										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)					CGAGTCCCTGGAAGCAATCTG	0.333000													18	17					1.99824e-07	2.449e-07	0.004990	1	0
PKD1L2	114780	broad.mit.edu	37	16	81151043	81151043	+	RNA	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:81151043C>A	ENST00000534142.1	-	0	1093				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA			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						ACAAACACCGCCAGGGCGCTC	0.622000													24	37					3.28513e-13	4.90865e-13	0.003954	1	0
PCDHGB6	56100	broad.mit.edu	37	5	140788431	140788431	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:140788431C>A	ENST00000520790.1	+	1	662	c.662C>A	c.(661-663)cCa>cAa	p.P221Q	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGACCCACCAAGAAGTGCC	0.458000													4	2					0.00909568	0.00952561	0.009096	1	0
OR10S1	219873	broad.mit.edu	37	11	123847751	123847751	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:123847751G>T	ENST00000531945.1	-	1	737	c.648C>A	c.(646-648)agC>agA	p.S216R		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CGATGCCAATGCTGGCAAGCA	0.562000													8	15					5.18039e-06	6.07593e-06	0.003080	1	0
ZC3H13	23091	broad.mit.edu	37	13	46559869	46559869	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:46559869T>C	ENST00000242848.4	-	10	1631	c.1283A>G	c.(1282-1284)aAg>aGg	p.K428R	ZC3H13_ENST00000282007.3_Missense_Mutation_p.K428R			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	428	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCTTGAGTCCTTTTCTCTGTC	0.403000													3	68					0	0	0.004672	0	0
LAMC3	10319	broad.mit.edu	37	9	133932507	133932507	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:133932507C>A	ENST00000361069.4	+	12	2264	c.2131C>A	c.(2131-2133)Cag>Aag	p.Q711K	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	711	Laminin EGF-like 6.				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)		CACCTGTAACCAGCATGGCAC	0.587000													23	27					1.85244e-09	2.43219e-09	0.003330	1	0
KLC1	3831	broad.mit.edu	37	14	104121095	104121095	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:104121095T>C	ENST00000389744.4	+	2	463	c.194T>C	c.(193-195)gTg>gCg	p.V65A	KLC1_ENST00000555836.1_Missense_Mutation_p.V65A|KLC1_ENST00000553286.1_Missense_Mutation_p.V65A|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.V237A|KLC1_ENST00000554280.1_Missense_Mutation_p.V65A|KLC1_ENST00000557575.1_Missense_Mutation_p.V65A|KLC1_ENST00000348520.6_Missense_Mutation_p.V65A|KLC1_ENST00000334553.6_Missense_Mutation_p.V65A|KLC1_ENST00000445352.4_Missense_Mutation_p.V65A|KLC1_ENST00000246489.7_Missense_Mutation_p.V65A|KLC1_ENST00000347839.6_Missense_Mutation_p.V65A|KLC1_ENST00000557450.1_Missense_Mutation_p.V65A|KLC1_ENST00000452929.2_Missense_Mutation_p.V65A|KLC1_ENST00000380038.3_Missense_Mutation_p.V65A			Q07866	KLC1_HUMAN	kinesin light chain 1	65					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				AGTAATTTGGTGGAGGAGAAA	0.443000													8	28					0	0	0.003080	0	0
DOCK9	23348	broad.mit.edu	37	13	99505739	99505739	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:99505739C>A	ENST00000376460.1	-	35	3949	c.3869G>T	c.(3868-3870)cGc>cTc	p.R1290L	DOCK9_ENST00000339416.2_Missense_Mutation_p.R1291L|DOCK9_ENST00000448493.2_Missense_Mutation_p.R1302L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1291					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)					TTTATCACAGCGAACCACGGA	0.378000													62	84					6.05568e-20	1.08012e-19	0.003610	1	0
RIMBP2	23504	broad.mit.edu	37	12	130935811	130935811	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:130935811G>T	ENST00000261655.4	-	5	545	c.382C>A	c.(382-384)Ccg>Acg	p.P128T	RIMBP2_ENST00000536002.1_Missense_Mutation_p.P36T|RIMBP2_ENST00000535703.1_Missense_Mutation_p.P36T	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	128						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGAGGCTCCGGCCTGTCACCA	0.612000													19	8					1.00905e-13	1.52378e-13	0.008871	1	0
JPH3	57338	broad.mit.edu	37	16	87636837	87636837	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:87636837G>A	ENST00000284262.2	+	1	327	c.85G>A	c.(85-87)Gtc>Atc	p.V29I		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	29	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CGGCCATGGCGTCTGCACCGG	0.637000													18	31					0	0	0.001882	0	0
RUNX1T1	862	broad.mit.edu	37	8	93023228	93023228	+	Splice_Site	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:93023228A>G	ENST00000523629.1	-	5	1013		c.e5+1		RUNX1T1_ENST00000521553.1_Splice_Site|RUNX1T1_ENST00000360348.2_Splice_Site|RUNX1T1_ENST00000265814.3_Splice_Site|RUNX1T1_ENST00000520724.1_Splice_Site|RUNX1T1_ENST00000436581.2_Splice_Site|RUNX1T1_ENST00000518844.1_Splice_Site|RUNX1T1_ENST00000396218.1_Splice_Site|RUNX1T1_ENST00000422361.2_Splice_Site	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)						generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			ACTGTGCAATACCTTCAAAAA	0.358000													14	44					0	0	0.002450	0	0
MMP8	4317	broad.mit.edu	37	11	102593335	102593335	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:102593335C>A	ENST00000236826.3	-	2	270	c.172G>T	c.(172-174)Gtg>Ttg	p.V58L		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	58					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		TCAACGATCACATTAGTGCCA	0.438000													29	24					1.5548e-18	2.68867e-18	0.005443	1	0
MAGEE1	57692	broad.mit.edu	37	X	75650314	75650314	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:75650314C>A	ENST00000361470.2	+	1	2269	c.1991C>A	c.(1990-1992)aCc>aAc	p.T664N		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	664	MAGE 1.		T -> N (in a breast cancer sample; somatic mutation).			dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		p.T664N(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CTAGAAACCACCAAGATGAAA	0.433000													16	14					5.3912e-06	6.29714e-06	0.006122	1	0
MUC3A	4584	broad.mit.edu	37	7	100552602	100552602	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:100552602C>A	ENST00000319509.7	+	1	1353	c.1353C>A	c.(1351-1353)agC>agA	p.S451R						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CAAGCAGTAGCCTCCCGACCA	0.577000													24	208					2.81731e-10	3.81562e-10	0.002096	1	0
SLC10A2	6555	broad.mit.edu	37	13	103718339	103718339	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:103718339C>A	ENST00000245312.3	-	1	857	c.261G>T	c.(259-261)tcG>tcT	p.S87S		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	87					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)					CAAAGGCCACCGACAGGATGA	0.522000													30	37					8.53417e-09	1.09615e-08	0.002836	1	0
MTERFD1	51001	broad.mit.edu	37	8	97256192	97256192	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:97256192G>A	ENST00000523821.1	-	7	1133	c.1014C>T	c.(1012-1014)caC>caT	p.H338H	MTERFD1_ENST00000287025.3_Silent_p.H338H|MTERFD1_ENST00000524341.1_Intron|MTERFD1_ENST00000522822.1_Silent_p.H217H			Q96E29	MTER1_HUMAN	MTERF domain containing 1	338					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					TCATCACATTGTGCACAAAAT	0.413000													56	28					0	0	0.003610	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166384	19166384	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:19166384G>A	ENST00000375371.3	-	6	2250	c.2229C>T	c.(2227-2229)ttC>ttT	p.F743F		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	743					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGGCGAAGCTGAAACCCACCA	0.542000													19	3					0	0	0.010504	0	0
FNDC1	84624	broad.mit.edu	37	6	159687132	159687132	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:159687132G>A	ENST00000297267.9	+	21	5501	c.5301G>A	c.(5299-5301)tgG>tgA	p.W1767*	FNDC1_ENST00000340366.6_Nonsense_Mutation_p.W1704*	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1767						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGCCTATCTGGATCCCATTCG	0.493000													16	4					0	0	0.006122	0	0
KLF4	9314	broad.mit.edu	37	9	110249774	110249774	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:110249774C>A	ENST00000374672.4	-	3	1374	c.901G>T	c.(901-903)Gct>Tct	p.A301S		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	301	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						TCGTGTGCAGCCGGCCGGTGG	0.697000													6	9					2.7689e-08	3.50875e-08	0.001984	1	0
BCL9L	283149	broad.mit.edu	37	11	118773205	118773205	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:118773205T>A	ENST00000334801.3	-	6	2211	c.1247A>T	c.(1246-1248)gAc>gTc	p.D416V	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	416	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TCGCTCAATGTCTCGCAGCGT	0.682000													9	11					0	0	0.008291	0	0
PKHD1	5314	broad.mit.edu	37	6	51503728	51503728	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:51503728C>A	ENST00000371117.3	-	64	11700	c.11425G>T	c.(11425-11427)Ggt>Tgt	p.G3809C		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3809					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTAACATAACCATCTTGAGTT	0.383000													45	92					1.32136e-16	2.17113e-16	0.008740	1	0
ZDHHC9	51114	broad.mit.edu	37	X	128957772	128957772	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:128957772G>T	ENST00000357166.6	-	5	761	c.370C>A	c.(370-372)Cct>Act	p.P124T	ZDHHC9_ENST00000371064.3_Missense_Mutation_p.P124T	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	124						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						TTGATACGAGGCGGTGGTCGC	0.483000													71	71					2.28164e-27	4.52499e-27	0.003610	1	0
FCRL5	83416	broad.mit.edu	37	1	157494099	157494099	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:157494099G>A	ENST00000361835.3	-	10	2366	c.2209C>T	c.(2209-2211)Cgc>Tgc	p.R737C	FCRL5_ENST00000368190.3_Missense_Mutation_p.R737C|FCRL5_ENST00000368191.3_Missense_Mutation_p.R652C|FCRL5_ENST00000356953.4_Missense_Mutation_p.R737C	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	737	Ig-like C2-type 7.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ATCTCACTGCGCTGGGCCTCC	0.562000													26	46					0	0	0.004656	0	0
IGHG1	3500	broad.mit.edu	37	14	106208309	106208309	+	RNA	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:106208309C>A	ENST00000390548.2	-	0	590																											CCTTGCCATTCAGCCAGTCCT	0.592000													207	21					7.61031e-125	1.69676e-124	0.003610	1	0
SZT2	23334	broad.mit.edu	37	1	43891741	43891741	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:43891741G>T	ENST00000562955.1	+	21	2962	c.2962G>T	c.(2962-2964)Gag>Tag	p.E988*	SZT2_ENST00000372442.1_Nonsense_Mutation_p.E146*	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1004						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						CTGCGTCCATGAGATCCCTTT	0.552000													17	1					8.00594e-06	9.27486e-06	0.007413	1	0
DIAPH2	1730	broad.mit.edu	37	X	96212929	96212929	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:96212929G>C	ENST00000324765.8	+	16	2064	c.1717G>C	c.(1717-1719)Gga>Cga	p.G573R	DIAPH2_ENST00000355827.4_Missense_Mutation_p.G573R|DIAPH2_ENST00000373049.4_Missense_Mutation_p.G573R|DIAPH2_ENST00000373061.3_Missense_Mutation_p.G573R|DIAPH2_ENST00000373054.4_Missense_Mutation_p.G569R			O60879	DIAP2_HUMAN	diaphanous-related formin 2	573	FH1.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	p.G573R(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						ACCTCTACCCGGAGGAGCTCC	0.592000													19	16					0	0	0.006122	0	0
PXDNL	137902	broad.mit.edu	37	8	52412259	52412259	+	Splice_Site	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:52412259A>T	ENST00000356297.4	-	5	552	c.452_splice	c.e5+1	p.L151_splice	PXDNL_ENST00000543296.1_Splice_Site_p.L151_splice	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	151					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)				CAACACTTACAGTCGCTCTAA	0.423000													28	69					0	0	0.007291	0	0
TECPR2	9895	broad.mit.edu	37	14	102918939	102918939	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:102918939G>T	ENST00000359520.7	+	16	3841	c.3615G>T	c.(3613-3615)tgG>tgT	p.W1205C	TECPR2_ENST00000558678.1_Missense_Mutation_p.W1205C	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1205							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GCATGCACTGGACCAGGCTGG	0.647000													14	1					7.93312e-07	9.52512e-07	0.002450	1	0
TMEM168	64418	broad.mit.edu	37	7	112407276	112407276	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:112407276T>A	ENST00000312814.5	-	5	2630	c.2070A>T	c.(2068-2070)caA>caT	p.Q690H	TMEM168_ENST00000454074.1_Missense_Mutation_p.Q690H	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	690						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GTTTGAAGCCTTGTCCTGTGT	0.373000													12	40					0	0	0.001368	0	0
LHFPL3	375612	broad.mit.edu	37	7	103969337	103969337	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:103969337G>T	ENST00000535008.1	+	1	234	c.110G>T	c.(109-111)gGc>gTc	p.G37V	LHFPL3_ENST00000543266.1_Missense_Mutation_p.G37V|LHFPL3_ENST00000424859.1_Missense_Mutation_p.G23V|LHFPL3_ENST00000401970.2_Missense_Mutation_p.G23V			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	23						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						CGGGCCATCGGCGTGCTGTGG	0.677000													8	31					2.17888e-05	2.48764e-05	0.006214	1	0
KIAA2013	90231	broad.mit.edu	37	1	11983315	11983315	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:11983315T>A	ENST00000376572.3	-	2	1450	c.1265A>T	c.(1264-1266)cAg>cTg	p.Q422L	KIAA2013_ENST00000376576.3_Missense_Mutation_p.Q422L	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	422						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCAGGATCTGCTGGACGGA	0.642000													11	1					0	0	0.001368	0	0
DNAH9	1770	broad.mit.edu	37	17	11737983	11737983	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:11737983C>A	ENST00000262442.3	+	49	9343	c.9275C>A	c.(9274-9276)gCc>gAc	p.A3092D	DNAH9_ENST00000454412.2_Missense_Mutation_p.A3092D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3092	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAGCTGGCTGCCCAGGAAGTA	0.512000													14	5					0.000219431	0.000242332	0.002450	1	0
ZNF521	25925	broad.mit.edu	37	18	22805797	22805797	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:22805797G>A	ENST00000361524.3	-	4	2233	c.2085C>T	c.(2083-2085)atC>atT	p.I695I	ZNF521_ENST00000538137.2_Silent_p.I695I|ZNF521_ENST00000584787.1_Silent_p.I475I	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	695					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AACTCTCACAGATGTAATACG	0.453000			T	PAX5	ALL								16	42					0	0	0.006122	0	0
EXOC4	60412	broad.mit.edu	37	7	132959880	132959880	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:132959880A>G	ENST00000253861.4	+	2	259	c.230A>G	c.(229-231)cAg>cGg	p.Q77R	EXOC4_ENST00000393161.2_Missense_Mutation_p.Q77R|EXOC4_ENST00000539845.1_5'UTR	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	77					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				CGCACATACCAGAGCATCACA	0.468000													22	21					0	0	0.001882	0	0
LACTB2	51110	broad.mit.edu	37	8	71581315	71581315	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:71581315C>A	ENST00000276590.4	-	1	77	c.41G>T	c.(40-42)cGa>cTa	p.R14L	LACTB2_ENST00000522447.1_Missense_Mutation_p.R14L	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	14							hydrolase activity|metal ion binding			endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			ACGCACGACTCGATTGGACAG	0.647000											OREG0018822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	4					1.61879e-10	2.21568e-10	0.001368	1	0
PCDH8	5100	broad.mit.edu	37	13	53419026	53419026	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:53419026G>C	ENST00000377942.3	-	3	3085	c.2882C>G	c.(2881-2883)tCt>tGt	p.S961C	PCDH8_ENST00000338862.4_Missense_Mutation_p.S864C	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	961					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)		GCAGCGGTCAGAGTGGCCCAG	0.542000													16	28					0	0	0.004007	0	0
MAN1B1	11253	broad.mit.edu	37	9	139990738	139990738	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:139990738C>A	ENST00000371589.4	+	4	588	c.515C>A	c.(514-516)cCc>cAc	p.P172H	MAN1B1_ENST00000474902.1_5'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	172					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		CAGATTAGACCCCCAAGCCAA	0.582000													14	21					4.3838e-07	5.31756e-07	0.001855	1	0
OR1S1	219959	broad.mit.edu	37	11	57983153	57983153	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:57983153G>C	ENST00000309433.6	+	1	937	c.937G>C	c.(937-939)Gcc>Ccc	p.A313P		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TATGAAAGGTGCCCTGAGAAA	0.428000													65	66					0	0	0.003610	0	0
PSKH2	85481	broad.mit.edu	37	8	87081748	87081748	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:87081748C>G	ENST00000276616.2	-	1	178	c.104G>C	c.(103-105)gGg>gCg	p.G35A	PSKH2_ENST00000517981.1_Intron	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	35							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)			CGCCTCGGGCCCAGGCCCCGC	0.716000													13	6					0	0	0.002450	0	0
MEPCE	56257	broad.mit.edu	37	7	100028156	100028156	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:100028156G>C	ENST00000310512.2	+	1	903	c.515G>C	c.(514-516)cGg>cCg	p.R172P	MEPCE_ENST00000414441.1_Intron	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	172							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGCGCAGGCGGGTGAATTCG	0.592000													13	61					0	0	0.001855	0	0
MIRLET7E	406887	broad.mit.edu	37	19	52196137	52196137	+	RNA	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:52196137G>T	ENST00000602324.1	-	0	572					NR_029482.1|NR_029693.1																						GCACGGGACGGGGCCCGGCGG	0.667000													23	36					2.32416e-17	3.90944e-17	0.002299	1	0
DCHS1	8642	broad.mit.edu	37	11	6654134	6654134	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:6654134C>G	ENST00000299441.3	-	6	3020	c.2609G>C	c.(2608-2610)gGa>gCa	p.G870A	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	870	Cadherin 8.				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)		TGGGGGCACTCCACTGCCTGC	0.577000													8	24					0	0	0.004482	0	0
THBS1	7057	broad.mit.edu	37	15	39883723	39883723	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:39883723G>A	ENST00000260356.5	+	16	2596	c.2431G>A	c.(2431-2433)Gac>Aac	p.D811N		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	811					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CAATGAACGGGACAACTGCCA	0.483000													12	43					0	0	0.000978	0	0
LRPAP1	4043	broad.mit.edu	37	4	3521898	3521898	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:3521898C>T	ENST00000500728.2	-	3	518	c.372G>A	c.(370-372)ctG>ctA	p.L124L	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	124					negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TCTTTCCGTCCAGACCATACT	0.542000													5	27					0	0	0.000602	0	0
KATNBL1	79768	broad.mit.edu	37	15	34446862	34446862	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:34446862C>A	ENST00000256544.3	-	3	283	c.141G>T	c.(139-141)ttG>ttT	p.L47F		NM_024713.2	NP_078989.1			katanin p80 subunit B-like 1																		TGTAAGCAGCCAACTGTTTTG	0.358000													7	16					0.00198382	0.0021119	0.001984	1	0
EP300	2033	broad.mit.edu	37	22	41566409	41566409	+	Splice_Site	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:41566409G>C	ENST00000263253.7	+	27	5505		c.e27-1		RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300						apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGTATTGTTAGTTACACAACA	0.383000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				4	30					0	0	0.009096	0	0
APCDD1	147495	broad.mit.edu	37	18	10471946	10471946	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:10471946A>G	ENST00000355285.4	+	3	1016	c.662A>G	c.(661-663)cAc>cGc	p.H221R	APCDD1_ENST00000578882.1_Intron|APCDD1_ENST00000584596.1_3'UTR	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	221					hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		TACCTTCACCACAACCTCGAC	0.577000													45	61					0	0	0.003214	0	0
LRIT2	340745	broad.mit.edu	37	10	85984321	85984321	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:85984321G>A	ENST00000372113.4	-	2	665	c.660C>T	c.(658-660)ctC>ctT	p.L220L	LRIT2_ENST00000538192.1_Silent_p.L220L	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	220	LRRCT.		L -> F (in dbSNP:rs11200925).			integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GGATGACTGGGAGGGTAATGG	0.537000													17	31					0	0	0.006122	0	0
OR5M9	390162	broad.mit.edu	37	11	56230127	56230127	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:56230127C>A	ENST00000279791.1	-	1	750	c.751G>T	c.(751-753)Ggg>Tgg	p.G251W		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ATGGGGGTCCCATAAAACATA	0.507000													20	15					4.35082e-09	5.67046e-09	0.010504	1	0
DHX57	90957	broad.mit.edu	37	2	39088829	39088829	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:39088829C>A	ENST00000295373.6	-	5	849	c.723G>T	c.(721-723)ttG>ttT	p.L241F	DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	241							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TACACTCATCCAAGCTTATCT	0.443000													35	52					1.36161e-19	2.41346e-19	0.004289	1	0
TAS2R1	50834	broad.mit.edu	37	5	9629330	9629330	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:9629330C>T	ENST00000382492.2	-	1	1133	c.815G>A	c.(814-816)gGa>gAa	p.G272E	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	272					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GAGAGAGTGTCCAGAAGGGTA	0.373000													21	38					0	0	0.010504	0	0
EPHB4	2050	broad.mit.edu	37	7	100421849	100421849	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:100421849C>A	ENST00000358173.3	-	2	567	c.99G>T	c.(97-99)gtG>gtT	p.V33V	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Silent_p.V33V	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	33					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)					GAGGGAATGTCACCCACTTCA	0.597000													74	52					6.83469e-46	1.47513e-45	0.003610	1	0
SLC34A1	6569	broad.mit.edu	37	5	176812848	176812848	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:176812848C>G	ENST00000324417.5	+	2	197	c.106C>G	c.(106-108)Cag>Gag	p.Q36E	SLC34A1_ENST00000512593.1_Missense_Mutation_p.Q36E	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	36					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			GCCCAGCCCTCAGGGTAAGTG	0.682000													11	5					0	0	0.001368	0	0
OR5M9	390162	broad.mit.edu	37	11	56230128	56230128	+	Nonsense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:56230128A>T	ENST00000279791.1	-	1	749	c.750T>A	c.(748-750)taT>taA	p.Y250*		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TGGGGGTCCCATAAAACATAG	0.512000													20	14					0	0	0.010504	0	0
GTF3C1	2975	broad.mit.edu	37	16	27480842	27480842	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:27480842T>A	ENST00000356183.4	-	32	4859	c.4844A>T	c.(4843-4845)gAc>gTc	p.D1615V	GTF3C1_ENST00000561623.1_Missense_Mutation_p.D1615V	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1615	Asp/Glu-rich (acidic).					transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTCATCCTCGTCATCCTCCAG	0.587000													34	35					0	0	0.004289	0	0
TRPV6	55503	broad.mit.edu	37	7	142574921	142574921	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:142574921C>T	ENST00000359396.3	-	4	706	c.461G>A	c.(460-462)cGt>cAt	p.R154H	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	154					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)					GCAGGGACTACGGCGGAAGGC	0.627000													23	22					0	0	0.001882	0	0
GPR114	221188	broad.mit.edu	37	16	57608834	57608834	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:57608834G>A	ENST00000340339.4	+	11	1839	c.1316G>A	c.(1315-1317)cGc>cAc	p.R439H	GPR114_ENST00000349457.3_Missense_Mutation_p.R439H|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	439					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						TGGACCCTGCGCAGGCTGCGG	0.682000													20	19					0	0	0.007413	0	0
RNF17	56163	broad.mit.edu	37	13	25433235	25433235	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:25433235C>A	ENST00000255324.5	+	26	3759	c.3707C>A	c.(3706-3708)gCa>gAa	p.A1236E	RNF17_ENST00000339524.3_Missense_Mutation_p.A288E|RNF17_ENST00000381921.1_Missense_Mutation_p.A1236E	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1236	Tudor 3.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GAAGCATGTGCAGTAAGAGGA	0.383000													16	19					1.15088e-07	1.42032e-07	0.004007	1	0
MED12	9968	broad.mit.edu	37	X	70352234	70352234	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:70352234G>T	ENST00000333646.6	+	31	4460	c.4261G>T	c.(4261-4263)Gag>Tag	p.E1421*	MED12_ENST00000374102.1_Nonsense_Mutation_p.E1421*|MED12_ENST00000374080.3_Nonsense_Mutation_p.E1421*|MED12_ENST00000478889.1_Intron	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1421					androgen receptor signaling pathway|negative regulation of Wnt 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|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CAGCTCTCTAGAGCGCTCTGG	0.562000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						13	21					4.36969e-10	5.85654e-10	0.001855	1	0
CDH12	1010	broad.mit.edu	37	5	21765109	21765109	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:21765109C>A	ENST00000382254.1	-	12	2579	c.1493G>T	c.(1492-1494)tGt>tTt	p.C498F	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.C498F|CDH12_ENST00000522262.1_Missense_Mutation_p.C458F|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	498	Cadherin 5.				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						GGCATTTTCACACACGGCTGT	0.363000										HNSCC(59;0.17)			29	38					1.80694e-10	2.46133e-10	0.009535	1	0
ETV4	2118	broad.mit.edu	37	17	41622670	41622670	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:41622670C>T	ENST00000319349.5	-	3	424	c.126G>A	c.(124-126)ccG>ccA	p.P42P	ETV4_ENST00000545954.1_Silent_p.P3P|ETV4_ENST00000591713.1_Silent_p.P42P|RP11-392O1.4_ENST00000588996.1_RNA|ETV4_ENST00000545089.1_Silent_p.P42P|ETV4_ENST00000538265.1_Silent_p.P3P|ETV4_ENST00000393664.2_Silent_p.P42P	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	42					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GCAGGGAGCCCGGGTCCATGA	0.627000			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""								7	13					0	0	0.003080	0	0
OR51E2	81285	broad.mit.edu	37	11	4703108	4703108	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:4703108G>T	ENST00000396950.3	-	2	1073	c.834C>A	c.(832-834)atC>atA	p.I278I		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCAGCAGGTAGATGTCACCCA	0.502000													21	40					5.26018e-13	7.82679e-13	0.001882	1	0
BAGE2	85319	broad.mit.edu	37	21	11039119	11039119	+	RNA	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr21:11039119C>T	ENST00000470054.1	-	0	1084									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTATAACCAACTGTTCCTCAG	0.403000													14	252					0	0	0.003163	0	0
OR1C1	26188	broad.mit.edu	37	1	247921270	247921270	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:247921270C>G	ENST00000408896.2	-	1	712	c.439G>C	c.(439-441)Gga>Cga	p.G147R		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGCCACAGTCCAGCCACTAGC	0.493000													29	9					0	0	0.004289	0	0
PLIN2	123	broad.mit.edu	37	9	19126235	19126235	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:19126235T>A	ENST00000276914.2	-	3	282	c.103A>T	c.(103-105)Agt>Tgt	p.S35C	PLIN2_ENST00000411567.1_Missense_Mutation_p.S35C|PLIN2_ENST00000380464.3_Missense_Mutation_p.S35C|PLIN2_ENST00000380465.3_Missense_Mutation_p.S35C	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	35					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						TCCTTTGTACTGAGATAGGCT	0.537000													19	42					0	0	0.008871	0	0
SLC2A9	56606	broad.mit.edu	37	4	9922190	9922190	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:9922190T>C	ENST00000506583.1	-	9	951	c.734A>G	c.(733-735)cAa>cGa	p.Q245R	SLC2A9_ENST00000309065.3_Missense_Mutation_p.Q245R|SLC2A9_ENST00000264784.3_Missense_Mutation_p.Q274R			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	274					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CAAGAACGTTTGGAAGGCTGC	0.582000													6	5					0	0	0.001168	0	0
WASL	8976	broad.mit.edu	37	7	123388756	123388756	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:123388756C>A	ENST00000223023.4	-	1	365	c.33G>T	c.(31-33)ccG>ccT	p.P11P		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	11					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						TGACCCTCCGCGGCGGCGGCG	0.672000													9	11					0.000274275	0.000298482	0.004482	1	0
RBM19	9904	broad.mit.edu	37	12	114397122	114397122	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:114397122C>A	ENST00000545145.2	-	5	544	c.466G>T	c.(466-468)Gct>Tct	p.A156S	RBM19_ENST00000392561.3_Missense_Mutation_p.A156S|RBM19_ENST00000261741.5_Missense_Mutation_p.A156S	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	156					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GAGGGCTCAGCATCCAGGCCA	0.602000													10	56					1.33987e-11	1.91526e-11	0.008291	1	0
HELLS	3070	broad.mit.edu	37	10	96350194	96350194	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:96350194A>G	ENST00000348459.5	+	14	1618	c.1513A>G	c.(1513-1515)Act>Gct	p.T505A	HELLS_ENST00000394045.1_Missense_Mutation_p.T407A|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000371332.4_Missense_Mutation_p.T551A|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000239026.6_3'UTR	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	505					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GTTAAGTCCTACTGGTCGACC	0.318000													23	14					0	0	0.002780	0	0
LONRF3	79836	broad.mit.edu	37	X	118109535	118109535	+	Silent	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:118109535C>G	ENST00000365713.2	+	1	955	c.792C>G	c.(790-792)ctC>ctG	p.L264L	LONRF3_ENST00000371628.3_Silent_p.L264L|LONRF3_ENST00000304778.7_Silent_p.L264L			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	264					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CGGCACTGCTCAAGTACAACG	0.667000													14	6					0	0	0.004990	0	0
ORMDL3	94103	broad.mit.edu	37	17	38079405	38079405	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:38079405T>A	ENST00000394169.1	-	5	1780	c.286A>T	c.(286-288)Acg>Tcg	p.T96S	ORMDL3_ENST00000304046.2_Missense_Mutation_p.T96S|ORMDL3_ENST00000584220.1_Missense_Mutation_p.T80S|ORMDL3_ENST00000579695.1_Missense_Mutation_p.T96S			Q8N138	ORML3_HUMAN	ORM1-like 3 (S. cerevisiae)	96					ceramide metabolic process	integral to membrane|SPOTS complex	protein binding			endometrium(3)|kidney(1)|lung(1)	5	Colorectal(19;0.000442)		Lung(15;0.0234)			CGAGAGGCCGTGAACTGGACC	0.617000													43	75					0	0	0.008740	0	0
FAM151A	338094	broad.mit.edu	37	1	55075530	55075530	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:55075530C>T	ENST00000302250.2	-	8	1329	c.1169G>A	c.(1168-1170)gGc>gAc	p.G390D	ACOT11_ENST00000343744.2_3'UTR|ACOT11_ENST00000481208.1_3'UTR|FAM151A_ENST00000371304.2_Intron|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	390						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CAGGATGTTGCCACTTGGAGT	0.602000													3	18					0	0	0.004672	0	0
PTPN1	5770	broad.mit.edu	37	20	49195123	49195123	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:49195123G>A	ENST00000371621.3	+	6	833	c.659G>A	c.(658-660)gGc>gAc	p.G220D	PTPN1_ENST00000541713.1_Missense_Mutation_p.G147D	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	220	Substrate binding (By similarity).|Tyrosine-protein phosphatase.				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	GCAGGCATCGGCAGGTCTGGA	0.592000													19	37					0	0	0.006122	0	0
BIRC6	57448	broad.mit.edu	37	2	32673862	32673862	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:32673862G>T	ENST00000421745.2	+	22	4618		c.e22-1			NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTATTTTTCAGATATGGATTA	0.348000													23	8					3.83957e-06	4.52202e-06	0.002780	1	0
SLC22A16	85413	broad.mit.edu	37	6	110778140	110778140	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:110778140C>G	ENST00000368919.3	-	2	200	c.134G>C	c.(133-135)gGa>gCa	p.G45A	SLC22A16_ENST00000439654.1_Missense_Mutation_p.G45A|SLC22A16_ENST00000330550.4_Missense_Mutation_p.G43A|SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000456137.2_Missense_Mutation_p.G45A	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	45					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		AGGGGTGACTCCCATGAACAC	0.478000													31	7					0	0	0.002836	0	0
TKTL2	84076	broad.mit.edu	37	4	164393480	164393480	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:164393480C>A	ENST00000280605.3	-	1	1567	c.1407G>T	c.(1405-1407)aaG>aaT	p.K469N		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	469						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AGCACATTCCCTTGGTATTGG	0.468000													52	7					1.34479e-40	2.87618e-40	0.003610	1	0
FAT3	120114	broad.mit.edu	37	11	92086947	92086947	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:92086947C>A	ENST00000298047.6	+	1	1686	c.1669C>A	c.(1669-1671)Cgc>Agc	p.R557S	FAT3_ENST00000409404.2_Missense_Mutation_p.R557S|FAT3_ENST00000541502.1_Missense_Mutation_p.R557S|FAT3_ENST00000525166.1_Missense_Mutation_p.R407S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	557	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTCACCATACCGCCATGAAAG	0.418000										TCGA Ovarian(4;0.039)			17	40					3.45872e-05	3.92357e-05	0.004007	1	0
ZNF804A	91752	broad.mit.edu	37	2	185800922	185800922	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:185800922G>T	ENST00000302277.6	+	4	1393	c.799G>T	c.(799-801)Gtg>Ttg	p.V267L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	267						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						ACCAACAGATGTGCTTTTGAG	0.403000													33	7					1.30897e-18	2.26633e-18	0.009535	1	0
MAGEE2	139599	broad.mit.edu	37	X	75003851	75003851	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:75003851C>A	ENST00000373359.2	-	1	1228	c.1036G>T	c.(1036-1038)Gag>Tag	p.E346*		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	346	MAGE 2.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AACACATCCTCAAATTCTTTG	0.418000													43	35					8.16277e-20	1.45412e-19	0.006999	1	0
TNN	63923	broad.mit.edu	37	1	175049430	175049430	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:175049430C>A	ENST00000239462.4	+	4	1029	c.916C>A	c.(916-918)Cag>Aag	p.Q306K		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	306	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTCTGGGAAGCAGATCCAAGT	0.547000													16	41					4.14922e-12	6.0098e-12	0.004007	1	0
ASRGL1	80150	broad.mit.edu	37	11	62156712	62156712	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:62156712C>T	ENST00000415229.2	+	5	814	c.599C>T	c.(598-600)tCa>tTa	p.S200L	ASRGL1_ENST00000301776.5_Missense_Mutation_p.S200L|ASRGL1_ENST00000535727.1_Missense_Mutation_p.S72L	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	200					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	GTTGGGGACTCACCGTGTCTA	0.582000													22	20					0	0	0.002299	0	0
FLNC	2318	broad.mit.edu	37	7	128494600	128494600	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:128494600G>T	ENST00000325888.8	+	41	7122	c.6861G>T	c.(6859-6861)acG>acT	p.T2287T	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.T2254T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2287					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						GGCCCCATACGGTCGCTGTCA	0.667000													4	7					0.00024832	0.000272116	0.009096	1	0
PHF2	5253	broad.mit.edu	37	9	96429477	96429477	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:96429477T>G	ENST00000359246.4	+	17	2670	c.2303T>G	c.(2302-2304)cTg>cGg	p.L768R	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	768					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)		TTGGACCTGCTGCAGGCCAGT	0.667000													10	2					0	0	0.006214	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177530	89177530	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:89177530G>A	ENST00000561129.2	+	1	576	c.446G>A	c.(445-447)aGt>aAt	p.S149N	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.S149N			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	149						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						TCAGGGCCCAGTGGTCCAGAC	0.602000													20	60					0	0	0.001882	0	0
NLRP4	147945	broad.mit.edu	37	19	56370165	56370165	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:56370165A>T	ENST00000301295.6	+	3	1828	c.1406A>T	c.(1405-1407)cAc>cTc	p.H469L	NLRP4_ENST00000346986.5_Missense_Mutation_p.H469L|NLRP4_ENST00000587891.1_Missense_Mutation_p.H394L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	469	NACHT.						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)		CTCAAGAGCCACCTTGATCAT	0.468000													40	97					0	0	0.005524	0	0
HNRNPDL	9987	broad.mit.edu	37	4	83350672	83350672	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:83350672G>A	ENST00000295470.5	-	1	347	c.172C>T	c.(172-174)Cag>Tag	p.Q58*	HNRNPDL_ENST00000502762.1_Nonsense_Mutation_p.Q58*	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1			heterogeneous nuclear ribonucleoprotein D-like																		ACGTGGCGCTGGGCCCGGCGC	0.761000													7	0					0	0	0.003080	0	0
NDN	4692	broad.mit.edu	37	15	23932277	23932277	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:23932277C>A	ENST00000331837.4	-	1	173	c.88G>T	c.(88-90)Gag>Tag	p.E30*		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	30					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGAACCCCCTCCGAAACCCCA	0.682000									Prader-Willi syndrome				7	9					0.00307968	0.00327115	0.003080	1	0
FAM170A	340069	broad.mit.edu	37	5	118969798	118969798	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:118969798G>T	ENST00000515256.1	+	3	527	c.355G>T	c.(355-357)Gta>Tta	p.V119L				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	119						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CTCTCTGTGTGTAAACAAAGA	0.483000													25	7					2.39556e-15	3.77435e-15	0.002780	1	0
IL6R	3570	broad.mit.edu	37	1	154437778	154437778	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:154437778G>T	ENST00000368485.3	+	10	1766	c.1329G>T	c.(1327-1329)tcG>tcT	p.S443S	IL6R_ENST00000507256.1_3'UTR|IL6R_ENST00000344086.4_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	443					acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	p.S443S(1)	IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACAATACCTCGAGCCACAACC	0.622000													31	32					2.65835e-16	4.32286e-16	0.007291	1	0
GRM1	2911	broad.mit.edu	37	6	146351270	146351270	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:146351270C>G	ENST00000392299.2	+	2	1087	c.617C>G	c.(616-618)cCt>cGt	p.P206R	GRM1_ENST00000492807.2_Missense_Mutation_p.P206R|GRM1_ENST00000361719.2_Missense_Mutation_p.P206R|GRM1_ENST00000282753.1_Missense_Mutation_p.P206R|GRM1_ENST00000507907.1_Missense_Mutation_p.P206R|GRM1_ENST00000355289.4_Missense_Mutation_p.P206R			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	206					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)	AGGGTTGTCCCTTCTGACACT	0.478000													33	5					0	0	0.002445	0	0
TRAT1	50852	broad.mit.edu	37	3	108549564	108549564	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:108549564G>T	ENST00000295756.6	+	2	285	c.55G>T	c.(55-57)Ggc>Tgc	p.G19C	TRAT1_ENST00000493604.1_3'UTR|TRAT1_ENST00000426646.1_Intron	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	19					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						AGCATTGTTGGGCTTGGCTTT	0.388000													90	16					1.14069e-49	2.47324e-49	0.003610	1	0
MCF2	4168	broad.mit.edu	37	X	138679702	138679702	+	Silent	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:138679702A>G	ENST00000520602.1	-	21	2437	c.2152T>C	c.(2152-2154)Ttg>Ctg	p.L718L	MCF2_ENST00000370573.4_Silent_p.L658L|MCF2_ENST00000370578.4_Silent_p.L803L|MCF2_ENST00000536274.1_Silent_p.L619L|MCF2_ENST00000519895.1_Silent_p.L734L|MCF2_ENST00000370576.4_Silent_p.L658L|MCF2_ENST00000338585.6_Silent_p.L674L|MCF2_ENST00000414978.1_Silent_p.L718L			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	658	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	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GCCTTCTTCAACAGAGCAGAT	0.323000													44	30					0	0	0.003610	0	0
PICALM	8301	broad.mit.edu	37	11	85725988	85725988	+	Silent	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:85725988T>C	ENST00000526033.1	-	5	787	c.471A>G	c.(469-471)agA>agG	p.R157R	PICALM_ENST00000393346.3_Silent_p.R157R|PICALM_ENST00000356360.5_Silent_p.R157R|PICALM_ENST00000528398.1_Silent_p.R106R|PICALM_ENST00000532317.1_Silent_p.R157R	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	157					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TGTTCATTGTTCTCATAACTC	0.328000			T	"""MLLT10, MLL"""	"""TALL, AML, """								7	24					0	0	0.001984	0	0
PSKH1	5681	broad.mit.edu	37	16	67943054	67943054	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:67943054G>T	ENST00000291041.5	+	2	572	c.402G>T	c.(400-402)cgG>cgT	p.R134R		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	134	Protein kinase.					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		CCAAGTACCGGGAGGGGCGGG	0.622000													26	35					2.79863e-10	3.79757e-10	0.004656	1	0
SLC38A8	146167	broad.mit.edu	37	16	84050271	84050271	+	Missense_Mutation	SNP	C	C	A	rs140920764		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:84050271C>A	ENST00000299709.3	-	8	1014	c.1015G>T	c.(1015-1017)Gcc>Tcc	p.A339S		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	339					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GAGGGGTCGGCCAGGGCGCTG	0.647000													26	15					1.66031e-10	2.26594e-10	0.003954	1	0
RBP3	5949	broad.mit.edu	37	10	48388110	48388110	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:48388110G>C	ENST00000224600.4	-	1	2881	c.2768C>G	c.(2767-2769)gCc>gGc	p.A923G		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	923	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TATGGAAAGGGCTTCGCTCAT	0.622000													19	16					0	0	0.006122	0	0
NPR3	4883	broad.mit.edu	37	5	32780908	32780908	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:32780908G>C	ENST00000265074.8	+	5	1619	c.1276G>C	c.(1276-1278)Gcg>Ccg	p.A426P	NPR3_ENST00000434067.2_Missense_Mutation_p.A210P|NPR3_ENST00000415685.2_Missense_Mutation_p.A210P|NPR3_ENST00000415167.2_Missense_Mutation_p.A426P	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	426					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	p.A426S(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TGATGTGGAGGCGGGCACCCA	0.567000													49	90					0	0	0.003610	0	0
NTRK3	4916	broad.mit.edu	37	15	88576188	88576188	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:88576188A>C	ENST00000394480.1	-	14	1806	c.1485T>G	c.(1483-1485)gaT>gaG	p.D495E	NTRK3_ENST00000360948.2_Missense_Mutation_p.D495E|NTRK3_ENST00000542733.2_Missense_Mutation_p.D397E|NTRK3_ENST00000355254.2_Missense_Mutation_p.D495E|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000317501.3_Missense_Mutation_p.D495E|NTRK3_ENST00000357724.2_Missense_Mutation_p.D487E|NTRK3_ENST00000557856.1_Missense_Mutation_p.D487E|NTRK3_ENST00000558676.1_Missense_Mutation_p.D487E|NTRK3_ENST00000540489.2_Missense_Mutation_p.D495E	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	495					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CGGGCCCGGCATCCAGTGACG	0.607000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			11	13					0	0	0.001368	0	0
GREB1	9687	broad.mit.edu	37	2	11780520	11780520	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:11780520C>G	ENST00000381486.2	+	33	6090	c.5790C>G	c.(5788-5790)ttC>ttG	p.F1930L	GREB1_ENST00000234142.5_Missense_Mutation_p.F1930L|GREB1_ENST00000396123.1_Missense_Mutation_p.F928L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1930						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCGATGAGTTCCAGACCGCCA	0.602000													20	43					0	0	0.001882	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146536876	146536876	+	Missense_Mutation	SNP	G	G	C	rs142185444		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:146536876G>C	ENST00000361727.3	+	3	798	c.282G>C	c.(280-282)caG>caC	p.Q94H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	94	F5/8 type C.				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)			ATCGGAAGCAGATCAGTGCCA	0.517000										HNSCC(39;0.1)			25	30					0	0	0.003330	0	0
TAS2R4	50832	broad.mit.edu	37	7	141478657	141478657	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:141478657G>T	ENST00000247881.2	+	1	416	c.369G>T	c.(367-369)cgG>cgT	p.R123R	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	123					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TGCTGAAGCGGAATATCTCCC	0.483000													45	61					2.47872e-24	4.74336e-24	0.002522	1	0
ARHGEF10	9639	broad.mit.edu	37	8	1842738	1842738	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:1842738G>T	ENST00000518288.1	+	14	1678	c.1515_splice	c.e14+1	p.S505_splice	ARHGEF10_ENST00000398564.1_Splice_Site_p.S505_splice|ARHGEF10_ENST00000349830.3_Splice_Site_p.S480_splice|ARHGEF10_ENST00000398560.1_Splice_Site_p.S466_splice|ARHGEF10_ENST00000520359.1_Splice_Site_p.S442_splice|ARHGEF10_ENST00000262112.6_Splice_Site_p.S505_splice			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	505	DH.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCGTGGCTTCGGTAATTAAGC	0.552000													11	1					2.80697e-09	3.66847e-09	0.000978	1	0
DCC	1630	broad.mit.edu	37	18	51025781	51025781	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:51025781C>A	ENST00000442544.2	+	27	4628	c.4012C>A	c.(4012-4014)Cca>Aca	p.P1338T	DCC_ENST00000581580.1_Missense_Mutation_p.P971T|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1338					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTGTGTTCGACCAACTCACCC	0.532000													33	35					7.11191e-15	1.10578e-14	0.002836	1	0
PDILT	204474	broad.mit.edu	37	16	20386194	20386194	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:20386194C>T	ENST00000302451.4	-	5	879	c.631G>A	c.(631-633)Gtc>Atc	p.V211I		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	211					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CGCCCAATGACATTGCCAATC	0.433000													29	48					0	0	0.008361	0	0
HIF3A	64344	broad.mit.edu	37	19	46832551	46832551	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:46832551A>G	ENST00000339613.2	+	12	1615	c.1360A>G	c.(1360-1362)Agg>Ggg	p.R454G	HIF3A_ENST00000377670.4_Missense_Mutation_p.R510G|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000600383.1_Missense_Mutation_p.R441G|HIF3A_ENST00000420102.2_Missense_Mutation_p.R459G|HIF3A_ENST00000244303.6_Missense_Mutation_p.R441G|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000300862.3_Missense_Mutation_p.R508G			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	510	NTAD.|ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GCAGCTACCCAGGGCCTACCA	0.647000													44	48					0	0	0.003214	0	0
AARD	441376	broad.mit.edu	37	8	117950633	117950633	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:117950633G>A	ENST00000378279.3	+	1	196	c.151G>A	c.(151-153)Gcc>Acc	p.A51T		NM_001025357.2	NP_001020528.1	Q4LEZ3	AARD_HUMAN	alanine and arginine rich domain containing protein	51																	GGAGGCCCTCGCCGCCAGCCC	0.716000													13	7					0	0	0.002450	0	0
CCDC40	55036	broad.mit.edu	37	17	78073477	78073477	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:78073477T>C	ENST00000397545.4	+	20	3359	c.3332T>C	c.(3331-3333)cTg>cCg	p.L1111P		NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	1111					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCCACCATCCTGGACCGCGTG	0.642000													18	53					0	0	0.010504	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76486650	76486650	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:76486650C>A	ENST00000307431.8	+	9	1699	c.1314C>A	c.(1312-1314)ccC>ccA	p.P438P	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.P390P|CNTNAP4_ENST00000478060.1_Silent_p.P366P|CNTNAP4_ENST00000476707.1_Silent_p.P442P	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	439	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GAAAATTACCCAGTGACATCA	0.403000													10	11					7.48243e-07	9.00686e-07	0.006214	1	0
KIF2B	84643	broad.mit.edu	37	17	51902054	51902054	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:51902054C>A	ENST00000268919.4	+	1	1816	c.1660C>A	c.(1660-1662)Cac>Aac	p.H554N		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	554					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						CCATCGTGGCCACTATCCGAT	0.393000													73	25					3.94896e-32	8.11541e-32	0.003610	1	0
TRRAP	8295	broad.mit.edu	37	7	98586464	98586464	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:98586464G>C	ENST00000359863.4	+	62	9687	c.9478G>C	c.(9478-9480)Ggc>Cgc	p.G3160R	TRRAP_ENST00000446306.3_Missense_Mutation_p.G3131R|TRRAP_ENST00000355540.3_Missense_Mutation_p.G3131R	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3160	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGCCATGTGGGGCGACTACCT	0.577000													14	36					0	0	0.001855	0	0
MYO7B	4648	broad.mit.edu	37	2	128341834	128341834	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:128341834C>A	ENST00000389524.4	+	13	1534	c.1481C>A	c.(1480-1482)cCc>cAc	p.P494H	MYO7B_ENST00000409816.2_Missense_Mutation_p.P494H|MYO7B_ENST00000428314.1_Missense_Mutation_p.P494H			Q6PIF6	MYO7B_HUMAN	myosin VIIB	494	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GACAATCGGCCCACCCTGGAC	0.587000													34	5					2.6416e-12	3.85369e-12	0.006230	1	0
ADRBK2	157	broad.mit.edu	37	22	26110499	26110499	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:26110499G>T	ENST00000324198.5	+	18	1808	c.1616G>T	c.(1615-1617)aGg>aTg	p.R539M		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	539							ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	ATCGAGGCCAGGAAGAGAGCT	0.383000													9	12					3.09899e-07	3.78172e-07	0.004482	1	0
OAS1	4938	broad.mit.edu	37	12	113354411	113354411	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:113354411C>A	ENST00000452357.2	+	4	942	c.752C>A	c.(751-753)aCa>aAa	p.T251K	OAS1_ENST00000445409.2_Missense_Mutation_p.T251K|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000202917.5_Missense_Mutation_p.T251K|OAS1_ENST00000551241.1_Missense_Mutation_p.T251K	NM_002534.2	NP_002525.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	251					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						CATTTCAACACAGCCCAGGGA	0.463000													36	18					3.03874e-20	5.44057e-20	0.003271	1	0
MBNL3	55796	broad.mit.edu	37	X	131526362	131526362	+	Splice_Site	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:131526362C>A	ENST00000538204.1	-	3	258	c.192_splice	c.e3-1	p.G65_splice	MBNL3_ENST00000473364.1_5'UTR|MBNL3_ENST00000370857.3_Splice_Site_p.G115_splice|MBNL3_ENST00000394311.2_Splice_Site_p.G19_splice|RP5-842K24.2_ENST00000421483.1_RNA|MBNL3_ENST00000370849.3_Splice_Site_p.G65_splice|MBNL3_ENST00000370839.3_Splice_Site_p.G115_splice|MBNL3_ENST00000370853.3_Splice_Site_p.G115_splice|MBNL3_ENST00000370844.1_Splice_Site_p.G19_splice|RP5-842K24.2_ENST00000441399.1_RNA	NM_001170702.1	NP_001164173.1	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	115					mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					GGAAAAGAACCCTGTATGTTT	0.388000													16	21					2.23348e-06	2.6525e-06	0.004007	1	0
PCDHB13	56123	broad.mit.edu	37	5	140594246	140594246	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:140594246G>T	ENST00000341948.4	+	1	738	c.551G>T	c.(550-552)cGc>cTc	p.R184L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		184	Cadherin 2.				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)			GTCCTCACCCGCAAACGCAGT	0.488000													21	5					7.41877e-09	9.53833e-09	0.001882	1	0
GRB14	2888	broad.mit.edu	37	2	165353977	165353977	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:165353977C>A	ENST00000263915.3	-	10	1666	c.1128G>T	c.(1126-1128)ctG>ctT	p.L376L	GRB14_ENST00000543549.1_Silent_p.L289L	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	376					blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CCATTGCTACCAGGGAATTCT	0.373000													41	8					4.80596e-09	6.235e-09	0.003214	1	0
ADH5	128	broad.mit.edu	37	4	100002601	100002601	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:100002601C>A	ENST00000296412.8	-	4	309	c.259G>T	c.(259-261)Gac>Tac	p.D87Y	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3	P11766	ADHX_HUMAN	alcohol dehydrogenase 5 (class III), chi polypeptide	87					ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)	ATGACAGTGTCACCTGGAAAC	0.378000													10	1					3.86212e-05	4.34642e-05	0.008291	1	0
PDE3A	5139	broad.mit.edu	37	12	20807033	20807033	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:20807033G>A	ENST00000359062.3	+	15	3118	c.3078G>A	c.(3076-3078)tgG>tgA	p.W1026*	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1026	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTGGAAAATGGGTGGAAGACA	0.483000													15	10					0	0	0.004007	0	0
PCDH18	54510	broad.mit.edu	37	4	138442648	138442648	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:138442648C>G	ENST00000344876.4	-	4	3329	c.2943G>C	c.(2941-2943)aaG>aaC	p.K981N	PCDH18_ENST00000511115.1_Missense_Mutation_p.K161N|PCDH18_ENST00000510305.1_Missense_Mutation_p.K192N|PCDH18_ENST00000507846.1_Missense_Mutation_p.K760N|PCDH18_ENST00000412923.2_Missense_Mutation_p.K980N	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	981	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGGAAAAACTCTTCTTCTTTT	0.517000													30	8					0	0	0.008361	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140615975	140615975	+	RNA	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:140615975G>T	ENST00000526308.1	+	0	2038					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GCTGTTCGGCGTGTGGGCGCA	0.697000													33	7					2.87052e-16	4.66254e-16	0.005524	1	0
PMFBP1	83449	broad.mit.edu	37	16	72170413	72170413	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:72170413C>A	ENST00000537465.1	-	9	1295	c.1137G>T	c.(1135-1137)caG>caT	p.Q379H	PMFBP1_ENST00000237353.10_Missense_Mutation_p.Q379H|PMFBP1_ENST00000355636.6_Missense_Mutation_p.Q234H			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	379										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GCAGCCGGCACTGCAGGATGG	0.542000													42	51					7.53189e-24	1.42784e-23	0.007835	1	0
CCL7	6354	broad.mit.edu	37	17	32598262	32598262	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:32598262C>T	ENST00000394627.1	+	2	294	c.227C>T	c.(226-228)aCt>aTt	p.T76I	CCL7_ENST00000394630.3_Intron|CCL7_ENST00000378569.2_Silent_p.H58H|CCL7_ENST00000200307.4_Silent_p.H68H			P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7	0					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CCAGTAGCCACTGTCCCCGGG	0.493000													49	42					0	0	0.003610	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83371266	83371266	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:83371266G>A	ENST00000262752.2	-	12	986	c.979C>T	c.(979-981)Cat>Tat	p.H327Y	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.H327Y	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	327	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AAAAACAGATGTCTTTTGATT	0.299000													4	26					0	0	0.009096	0	0
BTBD16	118663	broad.mit.edu	37	10	124097569	124097569	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:124097569T>G	ENST00000368994.2	+	16	1744	c.1493T>G	c.(1492-1494)gTa>gGa	p.V498G	BTBD16_ENST00000260723.4_Missense_Mutation_p.V497G			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	497										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CCAATCTATGTAAGTTTTGCA	0.373000													13	16					0	0	0.001368	0	0
KCNH4	23415	broad.mit.edu	37	17	40328139	40328139	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:40328139A>T	ENST00000264661.3	-	5	1094	c.762T>A	c.(760-762)gaT>gaA	p.D254E	KCNH4_ENST00000607371.1_Missense_Mutation_p.D254E	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	254					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGGGGGTGTCATCGTCACCCG	0.577000													75	57					0	0	0.003610	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803644	185803644	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:185803644C>G	ENST00000302277.6	+	4	4115	c.3521C>G	c.(3520-3522)gCt>gGt	p.A1174G		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1174						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						ATCATTCCAGCTTCCGTTCTT	0.512000													99	12					0	0	0.003610	0	0
ZNF716	441234	broad.mit.edu	37	7	57522810	57522810	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:57522810C>A	ENST00000420713.1	+	3	310	c.198C>A	c.(196-198)acC>acA	p.T66T		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						ACTTGATCACCTGTCTGGAGC	0.378000													35	52					2.20474e-14	3.40557e-14	0.003755	1	0
FKBP6	8468	broad.mit.edu	37	7	72745759	72745759	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:72745759G>T	ENST00000252037.4	+	5	637	c.568G>T	c.(568-570)Gcc>Tcc	p.A190S	FKBP6_ENST00000413573.2_Missense_Mutation_p.A160S|FKBP6_ENST00000431982.2_Missense_Mutation_p.A185S	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	190					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				TTTCTATGATGCCAAAGTGAG	0.403000													11	69					5.50884e-06	6.40815e-06	0.001368	1	0
HORMAD1	84072	broad.mit.edu	37	1	150679041	150679041	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:150679041C>T	ENST00000368993.2	-	10	897	c.792G>A	c.(790-792)gaG>gaA	p.E264E	HORMAD1_ENST00000322343.7_Silent_p.E257E|HORMAD1_ENST00000368995.4_Silent_p.E184E|HORMAD1_ENST00000361824.2_Silent_p.E264E			Q86X24	HORM1_HUMAN	HORMA domain containing 1	264				E -> G (in Ref. 1; CAG38536).	blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|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;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTGTATAATGCTCCTGTTCAT	0.299000													21	41					0	0	0.001882	0	0
HDX	139324	broad.mit.edu	37	X	83723981	83723981	+	Silent	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:83723981A>G	ENST00000297977.5	-	3	861	c.750T>C	c.(748-750)atT>atC	p.I250I	HDX_ENST00000373177.2_Silent_p.I250I|HDX_ENST00000506585.2_Silent_p.I192I	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	250						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						AAGGGTCTCTAATAGTTGGCT	0.438000													97	58					0	0	0.003610	0	0
MYO18A	399687	broad.mit.edu	37	17	27425126	27425126	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:27425126C>A	ENST00000527372.1	-	25	4167	c.3987G>T	c.(3985-3987)ctG>ctT	p.L1329L	MYO18A_ENST00000533112.1_Silent_p.L1329L|MYO18A_ENST00000354329.4_Silent_p.L1329L|MYO18A_ENST00000531253.1_Silent_p.L1329L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1329					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCCTCACCTGCAGTTCCTTCA	0.612000													60	154					8.02648e-44	1.72709e-43	0.003610	1	0
PNLIPRP1	5407	broad.mit.edu	37	10	118354355	118354355	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:118354355C>A	ENST00000528052.1	+	5	515	c.444C>A	c.(442-444)gcC>gcA	p.A148A	PNLIPRP1_ENST00000534537.1_Silent_p.A148A|PNLIPRP1_ENST00000358834.4_Silent_p.A148A			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	148					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CCCAGGTGGCCCAGATGCTCG	0.592000													12	26					3.07112e-06	3.63206e-06	0.000978	1	0
FTO	79068	broad.mit.edu	37	16	53859963	53859963	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:53859963G>T	ENST00000471389.1	+	3	533	c.311G>T	c.(310-312)tGc>tTc	p.C104F	FTO_ENST00000394647.3_Intron	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	104	Fe2OG dioxygenase domain.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						AATCCAGGCTGCACCTACAAG	0.512000													20	32					6.33239e-15	9.85656e-15	0.010504	1	0
MAGEC3	139081	broad.mit.edu	37	X	140985371	140985371	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:140985371C>A	ENST00000544766.1	+	5	1460	c.933C>A	c.(931-933)ccC>ccA	p.P311P	MAGEC3_ENST00000409007.1_Silent_p.P311P|MAGEC3_ENST00000536088.1_Silent_p.P311P|MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000443323.2_Silent_p.P231P	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	33	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAGGTGCCCAACAGTGCTC	0.498000													74	69					1.62403e-39	3.45778e-39	0.003610	1	0
CTDP1	9150	broad.mit.edu	37	18	77489060	77489060	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:77489060G>T	ENST00000299543.7	+	11	2718	c.2571G>T	c.(2569-2571)atG>atT	p.M857I	CTDP1_ENST00000075430.7_Intron	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	857					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		TAGAGAGTATGGACAAAGAGG	0.607000													26	169					8.24728e-16	1.32743e-15	0.004656	1	0
CDH26	60437	broad.mit.edu	37	20	58564199	58564199	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:58564199G>T	ENST00000348616.4	+	9	1564	c.1264G>T	c.(1264-1266)Gat>Tat	p.D422Y	CDH26_ENST00000244047.5_Missense_Mutation_p.D422Y	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	422	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TAATGCCATGGATCCAGACAG	0.527000													91	143					9.79205e-48	2.11987e-47	0.003610	1	0
FAM46D	169966	broad.mit.edu	37	X	79698120	79698120	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:79698120C>A	ENST00000538312.1	+	5	416	c.82C>A	c.(82-84)Cat>Aat	p.H28N	FAM46D_ENST00000308293.5_Missense_Mutation_p.H28N	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	28										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						AATTCCAATTCATGGAAAGGG	0.373000													10	30					9.70103e-10	1.28682e-09	0.008291	1	0
HAUS7	55559	broad.mit.edu	37	X	152721042	152721042	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:152721042G>T	ENST00000421080.2	-	10	1549	c.383C>A	c.(382-384)cCa>cAa	p.P128Q	HAUS7_ENST00000370212.3_Silent_p.P306P|TREX2_ENST00000370232.1_5'UTR|HAUS7_ENST00000370219.3_Silent_p.P306P|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000370211.4_Silent_p.P296P|TREX2_ENST00000338525.2_5'UTR|TREX2_ENST00000334497.2_5'UTR|HAUS7_ENST00000484394.1_5'UTR			Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	0					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						CCTGGATGATGGGGCCGCACG	0.622000													42	29					7.66079e-34	1.5975e-33	0.002522	1	0
ATRNL1	26033	broad.mit.edu	37	10	117185799	117185799	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:117185799A>G	ENST00000303745.7	+	4	424	c.20A>G	c.(19-21)gAg>gGg	p.E7G	ATRNL1_ENST00000355044.3_Silent_p.R1103R|ATRNL1_ENST00000423111.2_Silent_p.R154R			Q5VV63	ATRN1_HUMAN	attractin-like 1	0						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ATCCACTTAGAGGAACATGTT	0.284000													20	35					0	0	0.002299	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269499	150269499	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:150269499C>T	ENST00000255945.2	+	3	516	c.341C>T	c.(340-342)cCt>cTt	p.P114L	GIMAP4_ENST00000461940.1_Missense_Mutation_p.P128L|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	114							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCCCAGGGCCTCATGCTCTG	0.512000													40	5					0	0	0.008740	0	0
AQP8	343	broad.mit.edu	37	16	25235842	25235842	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:25235842G>T	ENST00000219660.5	+	4	672	c.547G>T	c.(547-549)Ggc>Tgc	p.G183C	AQP8_ENST00000566125.1_Missense_Mutation_p.G177C	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	183					cellular response to cAMP	integral to plasma membrane	water channel activity	p.G183C(2)		NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		GAAGACAAAGGGCCCTCTGGC	0.622000													11	19					0.000978159	0.00104524	0.000978	1	0
C5orf38	153571	broad.mit.edu	37	5	2752838	2752838	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:2752838G>T	ENST00000515640.1	+	2	322	c.303G>T	c.(301-303)agG>agT	p.R101S	C5orf38_ENST00000397835.4_Missense_Mutation_p.R101S|C5orf38_ENST00000505778.1_Missense_Mutation_p.R101S|C5orf38_ENST00000334000.3_Missense_Mutation_p.R101S|C5orf38_ENST00000457752.2_Intron|IRX2_ENST00000502957.1_5'UTR			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	101						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		AGGAGCTCAGGTTGGCGCCGC	0.627000													18	45					9.16793e-09	1.1733e-08	0.004990	1	0
ATRNL1	26033	broad.mit.edu	37	10	117278785	117278785	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:117278785C>A	ENST00000355044.3	+	25	3793	c.3667C>A	c.(3667-3669)Caa>Aaa	p.Q1223K	ATRNL1_ENST00000423111.2_Missense_Mutation_p.Q274K|ATRNL1_ENST00000303745.7_Missense_Mutation_p.Q16K	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1223						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGCATTCTCACAACACAATAC	0.313000													13	21					9.05144e-12	1.3004e-11	0.001855	1	0
FHL1	2273	broad.mit.edu	37	X	135292119	135292119	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:135292119G>C	ENST00000543669.1	+	6	1489	c.778G>C	c.(778-780)Gcc>Ccc	p.A260P	FHL1_ENST00000535737.1_Missense_Mutation_p.A260P|FHL1_ENST00000370683.1_Missense_Mutation_p.A276P|FHL1_ENST00000370690.3_Missense_Mutation_p.A260P|FHL1_ENST00000394153.2_Missense_Mutation_p.A260P|FHL1_ENST00000370676.3_3'UTR|FHL1_ENST00000539015.1_Missense_Mutation_p.A289P|FHL1_ENST00000345434.3_3'UTR|FHL1_ENST00000394155.2_3'UTR	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	196					cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					CGTGAATCTGGCCAACAAGCG	0.502000													71	161					0	0	0.003610	0	0
GFRA1	2674	broad.mit.edu	37	10	117884934	117884934	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:117884934G>A	ENST00000439649.3	-	5	920	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	GFRA1_ENST00000369236.1_Missense_Mutation_p.R185C|GFRA1_ENST00000355422.6_Missense_Mutation_p.R190C|GFRA1_ENST00000544592.1_Missense_Mutation_p.R69C	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	190					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)		TGGCACTTGCGGCGGTTGCAG	0.602000													4	16					0	0	0.009096	0	0
PTPRT	11122	broad.mit.edu	37	20	41101007	41101007	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:41101007C>T	ENST00000373198.3	-	8	1584	c.1349G>A	c.(1348-1350)cGa>cAa	p.R450Q	PTPRT_ENST00000373201.1_Missense_Mutation_p.R450Q|PTPRT_ENST00000373187.1_Missense_Mutation_p.R450Q|PTPRT_ENST00000373184.1_Missense_Mutation_p.R450Q|PTPRT_ENST00000373190.1_Missense_Mutation_p.R450Q|PTPRT_ENST00000356100.2_Missense_Mutation_p.R450Q|PTPRT_ENST00000373193.3_Missense_Mutation_p.R450Q	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	450	Fibronectin type-III 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCGCAGGCCTCGCAGGGTGTA	0.602000													31	27					0	0	0.009535	0	0
RPH3AL	9501	broad.mit.edu	37	17	96918	96918	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:96918C>A	ENST00000323434.8	-	6	1107	c.510G>T	c.(508-510)acG>acT	p.T170T	RPH3AL_ENST00000536489.2_Silent_p.T170T|RPH3AL_ENST00000576001.1_5'UTR|RPH3AL_ENST00000331302.7_Silent_p.T199T	NM_001190412.1	NP_001177341.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	199					exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CTCGGGCCCACGTGTAGATGC	0.617000													72	8					7.33394e-39	1.55915e-38	0.003610	1	0
ELL	8178	broad.mit.edu	37	19	18561687	18561687	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:18561687C>A	ENST00000262809.4	-	8	1136	c.1065G>T	c.(1063-1065)aaG>aaT	p.K355N		NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	355					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		GCACGCCCAGCTTCCCGTTGA	0.657000			T	MLL	AL						OREG0025365	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	5					1.08611e-07	1.34624e-07	0.000978	1	0
RELN	5649	broad.mit.edu	37	7	103275894	103275894	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:103275894A>C	ENST00000428762.1	-	19	2602	c.2443T>G	c.(2443-2445)Tat>Gat	p.Y815D	RELN_ENST00000343529.5_Missense_Mutation_p.Y815D|RELN_ENST00000424685.2_Missense_Mutation_p.Y815D	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	815					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)		TAGCTGAGATATGAATAATGC	0.403000													43	21					0	0	0.008740	0	0
SPRR1A	6698	broad.mit.edu	37	1	152957793	152957793	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:152957793C>A	ENST00000307122.2	+	2	151	c.87C>A	c.(85-87)ccC>ccA	p.P29P	SPRR1A_ENST00000368762.1_Silent_p.P29P	NM_001199828.1|NM_005987.3	NP_001186757.1|NP_005978.2	P35321	SPR1A_HUMAN	small proline-rich protein 1A	29	2 X 12 AA approximate repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCTCCACCCCAGGAACCAT	0.602000													64	61					3.07184e-27	6.08362e-27	0.003610	1	0
GLTSCR1	29998	broad.mit.edu	37	19	48179129	48179129	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:48179129G>A	ENST00000396720.3	+	5	300	c.106G>A	c.(106-108)Gat>Aat	p.D36N	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	36							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		TGACCTCCTGGATAATCCCGG	0.582000													18	8					0	0	0.006122	0	0
KCNK17	89822	broad.mit.edu	37	6	39271868	39271868	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:39271868G>T	ENST00000453413.2	-	4	693	c.553C>A	c.(553-555)Ctc>Atc	p.L185I	KCNK17_ENST00000373231.4_Missense_Mutation_p.L185I	NM_001135111.1	NP_001128583.1	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	185						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						CCCGAGAGGAGGGCGCCAGAG	0.652000													19	4					1.22574e-08	1.56585e-08	0.002299	1	0
CALHM2	51063	broad.mit.edu	37	10	105209359	105209359	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:105209359G>T	ENST00000393235.1	-	3	1537	c.340C>A	c.(340-342)Cct>Act	p.P114T	CALHM2_ENST00000260743.5_Missense_Mutation_p.P114T|CALHM2_ENST00000369788.3_Missense_Mutation_p.P114T			Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	114						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CAGGTGACAGGGGCCACAGCC	0.627000													31	26					1.80694e-10	2.46133e-10	0.009535	1	0
ATP9A	10079	broad.mit.edu	37	20	50255930	50255930	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:50255930C>G	ENST00000338821.5	-	15	1884	c.1620G>C	c.(1618-1620)caG>caC	p.Q540H	ATP9A_ENST00000402822.1_Missense_Mutation_p.Q419H|ATP9A_ENST00000311637.5_Missense_Mutation_p.Q404H	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	540					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						AAGGGAAGATCTGTAGGATGG	0.522000											OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	71					0	0	0.005524	0	0
F2	2147	broad.mit.edu	37	11	46747442	46747442	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:46747442G>T	ENST00000311907.5	+	7	649	c.593G>T	c.(592-594)cGc>cTc	p.R198L	F2_ENST00000530231.1_Missense_Mutation_p.R198L	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	198		Cleavage; by thrombin.			activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	ATGACTCCACGCTCCGAAGGC	0.617000													34	39					1.36239e-07	1.67697e-07	0.003271	1	0
SEMA6D	80031	broad.mit.edu	37	15	48063806	48063806	+	Missense_Mutation	SNP	C	C	A	rs34884840	byFrequency	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:48063806C>A	ENST00000316364.5	+	19	3485	c.3046C>A	c.(3046-3048)Cca>Aca	p.P1016T	SEMA6D_ENST00000354744.4_Missense_Mutation_p.P960T|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P954T|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P954T|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P973T|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P997T|SEMA6D_ENST00000536845.2_Missense_Mutation_p.P1016T|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P954T|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P941T	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	1016					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TCAGGGAACACCAGTGAGTGT	0.517000													55	53					1.51943e-15	2.42084e-15	0.003610	1	0
TMEM178A	130733	broad.mit.edu	37	2	39944284	39944284	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:39944284T>G	ENST00000281961.2	+	4	843	c.787T>G	c.(787-789)Tgc>Ggc	p.C263G	TMEM178A_ENST00000482239.1_3'UTR	NM_152390.2	NP_689603.2			transmembrane protein 178A																		TTGCGCCTGGTGCAGTTTAGG	0.498000													34	54					0	0	0.005524	0	0
PXDN	7837	broad.mit.edu	37	2	1652140	1652140	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:1652140C>A	ENST00000252804.4	-	17	3462	c.3412G>T	c.(3412-3414)Gag>Tag	p.E1138*		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1138					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)		TCCGTGAGCTCCGTGTTCAGC	0.652000													20	22					4.63292e-17	7.71972e-17	0.008871	1	0
HEPACAM2	253012	broad.mit.edu	37	7	92821666	92821666	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:92821666C>T	ENST00000394468.2	-	9	1363	c.1286G>A	c.(1285-1287)aGg>aAg	p.R429K	HEPACAM2_ENST00000453812.2_Missense_Mutation_p.R452K|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.G409S|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.R417K|HEPACAM2_ENST00000492616.1_5'UTR	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	429						integral to membrane		p.R417K(1)|p.R429K(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TGGAACAGACCTGCTTGGGAT	0.403000													35	91					0	0	0.004878	0	0
ZNF76	7629	broad.mit.edu	37	6	35260751	35260751	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:35260751A>T	ENST00000373953.3	+	11	1525	c.1259A>T	c.(1258-1260)cAg>cTg	p.Q420L	ZNF76_ENST00000440666.2_Missense_Mutation_p.Q394L|ZNF76_ENST00000339411.5_Missense_Mutation_p.Q420L	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	420					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						ATCCCAGCCCAGGTGGCGATG	0.622000													58	12					0	0	0.003610	0	0
NIPAL4	348938	broad.mit.edu	37	5	156898710	156898710	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:156898710G>T	ENST00000311946.7	+	5	773	c.657G>T	c.(655-657)ctG>ctT	p.L219L	NIPAL4_ENST00000435489.2_Silent_p.L200L|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	219						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						TGAACCTGCTGGGGAAGCTGG	0.547000											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	1					0.00116845	0.00124669	0.001168	1	0
ZNF616	90317	broad.mit.edu	37	19	52619865	52619865	+	Silent	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:52619865C>G	ENST00000600228.1	-	4	813	c.552G>C	c.(550-552)acG>acC	p.T184T	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	184					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)		TACATACATACGTTTTTTCCC	0.363000													65	72					0	0	0.003610	0	0
GRM8	2918	broad.mit.edu	37	7	126173616	126173616	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:126173616C>A	ENST00000339582.2	-	9	2628	c.1820G>T	c.(1819-1821)cGc>cTc	p.R607L	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.R607L|GRM8_ENST00000444921.2_Missense_Mutation_p.R607L			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	607					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)	GTCATTATAGCGGACAAAGGT	0.453000										HNSCC(24;0.065)			18	41					0.000958276	0.00102476	0.007413	1	0
MICAL3	57553	broad.mit.edu	37	22	18300138	18300138	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:18300138G>A	ENST00000441493.2	-	26	5641	c.5289C>T	c.(5287-5289)acC>acT	p.T1763T		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1763						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CGCTGGAGGGGGTGCTGGGGC	0.642000													3	6					0	0	0.004672	0	0
IGHV3-23	28442	broad.mit.edu	37	14	106725296	106725296	+	RNA	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:106725296G>A	ENST00000390609.2	-	0	334																											ATGGTGAACCGGCCCTTCACG	0.552000													171	195					0	0	0.003610	0	0
ACD	65057	broad.mit.edu	37	16	67694282	67694282	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:67694282G>A	ENST00000219251.8	-	1	431	c.100C>T	c.(100-102)Cga>Tga	p.R34*	ACD_ENST00000393919.4_Nonsense_Mutation_p.R34*	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	34					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CGTCCTGCTCGGGGGCCTGTG	0.706000													6	5					0	0	0.001168	0	0
PREX2	80243	broad.mit.edu	37	8	69020436	69020436	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:69020436C>T	ENST00000288368.4	+	24	3085	c.2808C>T	c.(2806-2808)acC>acT	p.T936T		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	936					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						TCTGCCCTACCAACTGCCATG	0.433000													19	4					0	0	0.008871	0	0
BRWD3	254065	broad.mit.edu	37	X	79952243	79952243	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:79952243G>A	ENST00000373275.4	-	26	3279	c.3063C>T	c.(3061-3063)tcC>tcT	p.S1021S	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1021										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTCACTTAATGGAAAAAGATT	0.388000													9	20					0	0	0.008291	0	0
EPAS1	2034	broad.mit.edu	37	2	46588229	46588229	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:46588229G>T	ENST00000263734.3	+	6	1289	c.779_splice	c.e6+1	p.R260_splice		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	260	PAS 2.				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)			TGTGATGACAGGTAGGGGGCC	0.537000													15	2					4.14922e-12	6.0098e-12	0.004007	1	0
PTH1R	5745	broad.mit.edu	37	3	46935439	46935439	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:46935439C>T	ENST00000313049.5	+	2	321	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000449590.1_Silent_p.L40L|PTH1R_ENST00000430002.2_Silent_p.L40L|PTH1R_ENST00000418619.1_Silent_p.L40L			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	40						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						ACAGATCTTCCTGCTGCACCG	0.597000													17	5					0	0	0.006122	0	0
NFASC	23114	broad.mit.edu	37	1	204957917	204957917	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:204957917C>A	ENST00000367172.4	+	25	3399	c.3071C>A	c.(3070-3072)cCa>cAa	p.P1024Q	NFASC_ENST00000338515.6_Missense_Mutation_p.P1024Q|NFASC_ENST00000338586.6_Missense_Mutation_p.P1024Q|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367169.4_Missense_Mutation_p.P917Q|NFASC_ENST00000404907.1_Missense_Mutation_p.P1020Q|NFASC_ENST00000513543.1_Missense_Mutation_p.P1020Q|NFASC_ENST00000401399.1_Missense_Mutation_p.P917Q|NFASC_ENST00000367170.4_Missense_Mutation_p.P1024Q|NFASC_ENST00000367171.4_Missense_Mutation_p.P1009Q|NFASC_ENST00000539706.1_Missense_Mutation_p.P1020Q|NFASC_ENST00000360049.4_Missense_Mutation_p.P1020Q|NFASC_ENST00000404076.1_Missense_Mutation_p.P1003Q|NFASC_ENST00000339876.6_Missense_Mutation_p.P917Q			O94856	NFASC_HUMAN	neurofascin	1024	Fibronectin type-III 4.				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)			GAGGAGTCACCAGCACCCCCG	0.592000													35	8					2.32173e-10	3.15649e-10	0.004878	1	0
COL22A1	169044	broad.mit.edu	37	8	139629171	139629171	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:139629171C>A	ENST00000303045.6	-	54	4302	c.3856G>T	c.(3856-3858)Gca>Tca	p.A1286S	COL22A1_ENST00000435777.1_Missense_Mutation_p.A1266S|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1286	Collagen-like 12.|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)			GGACCGGGTGCACCAGAATCG	0.577000										HNSCC(7;0.00092)			6	45					0.000274275	0.000298482	0.004482	1	0
SATL1	340562	broad.mit.edu	37	X	84363299	84363299	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:84363299G>A	ENST00000509231.1	-	1	755	c.676C>T	c.(676-678)Cca>Tca	p.P226S	SATL1_ENST00000395409.3_Missense_Mutation_p.P39S|SATL1_ENST00000332921.5_Missense_Mutation_p.P39S			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	39	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTTATGCCTGGTTGGCTGGGG	0.517000													80	57					0	0	0.003610	0	0
IGKV1OR2-118	339562	broad.mit.edu	37	2	90458658	90458658	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:90458658G>T	ENST00000603238.1	+	2	334	c.334G>T	c.(334-336)Gac>Tac	p.112_112insY																								TCAACAGAGTGACAGTACCCC	0.517000													49	406					1.07234e-20	1.93458e-20	0.003610	1	0
PAPPA2	60676	broad.mit.edu	37	1	176738765	176738765	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:176738765C>G	ENST00000367662.3	+	16	5510	c.4346C>G	c.(4345-4347)tCt>tGt	p.S1449C		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1449	Sushi 1.				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						CTCACATGTTCTTCTGGGCAC	0.478000													39	48					0	0	0.007835	0	0
GATAD2B	57459	broad.mit.edu	37	1	153790011	153790011	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:153790011C>A	ENST00000368655.4	-	6	980	c.737G>T	c.(736-738)aGt>aTt	p.S246I		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	246						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACGGATGACACTGTGACCCTG	0.483000													11	18					0.000673444	0.000721802	0.008291	1	0
ABCG1	9619	broad.mit.edu	37	21	43711290	43711290	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr21:43711290C>T	ENST00000398437.1	+	13	2104	c.1956C>T	c.(1954-1956)gaC>gaT	p.D652D	ABCG1_ENST00000361802.2_Silent_p.D506D|ABCG1_ENST00000398457.2_Silent_p.D496D|ABCG1_ENST00000343687.3_Silent_p.D505D|ABCG1_ENST00000347800.2_Silent_p.D491D|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398449.3_Silent_p.D494D|ABCG1_ENST00000340588.4_Silent_p.D614D			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	506	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CCATGGCAGACGTGCCCTTTC	0.532000													12	3					0	0	0.001368	0	0
PLCE1	51196	broad.mit.edu	37	10	96030305	96030305	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:96030305G>A	ENST00000260766.3	+	18	5086	c.4452G>A	c.(4450-4452)tcG>tcA	p.S1484S	PLCE1_ENST00000371375.1_Silent_p.S1176S|PLCE1_ENST00000371380.2_Silent_p.S1484S|PLCE1_ENST00000371385.3_Silent_p.S1176S	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1484	PI-PLC X-box.		S -> L (in NPHS3; gives rise to focal segmental glomerulosclerosis rather than diffuse mesangial sclerosis).		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)				TCATCATATCGATTGAGAACC	0.438000													11	32					0	0	0.008291	0	0
FPR3	2359	broad.mit.edu	37	19	52327904	52327904	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:52327904C>A	ENST00000339223.4	+	2	1082	c.903C>A	c.(901-903)ctC>ctA	p.L301L	FPR3_ENST00000595991.1_Silent_p.L301L	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	301					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						ACCCAATTCTCTACGTCTTTA	0.453000													52	115					2.5401e-28	5.08737e-28	0.003610	1	0
CLSTN2	64084	broad.mit.edu	37	3	139894870	139894870	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:139894870C>A	ENST00000458420.3	+	2	377	c.187C>A	c.(187-189)Cca>Aca	p.P63T		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	63	Cadherin 1.				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						CATTTTGGACCCACCACTGGT	0.463000										HNSCC(16;0.037)			40	6					1.96642e-18	3.39219e-18	0.006999	1	0
DEFB119	245932	broad.mit.edu	37	20	29976905	29976905	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:29976905G>T	ENST00000376315.2	-	2	189	c.190C>A	c.(190-192)Cat>Aat	p.H64N	DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000376321.3_Intron|DEFB119_ENST00000339144.3_Intron	NM_001271209.1|NM_153323.4	NP_001258138.1|NP_697018.1	Q8N690	DB119_HUMAN	defensin, beta 119	0					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGGATTCCATGAATTGTTACT	0.408000													27	31					1.66031e-10	2.26594e-10	0.003954	1	0
TRPV3	162514	broad.mit.edu	37	17	3458053	3458053	+	Missense_Mutation	SNP	G	G	T	rs146728389		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:3458053G>T	ENST00000301365.4	-	2	223	c.92C>A	c.(91-93)cCg>cAg	p.P31Q	TRPV3_ENST00000576742.1_Missense_Mutation_p.P31Q|TRPV3_ENST00000572519.1_Missense_Mutation_p.P31Q			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	31						integral to membrane	calcium channel activity	p.P31L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GATCTCCGCCGGCCTCTTCTC	0.642000													33	2					1.04594e-18	1.81758e-18	0.006230	1	0
ZAN	7455	broad.mit.edu	37	7	100355873	100355873	+	RNA	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:100355873T>C	ENST00000542585.1	+	0	3506				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_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)			TTGCCGCTGCTGGCCCGGCAG	0.577000													9	21					0	0	0.004482	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48145203	48145203	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:48145203C>A	ENST00000405493.2	-	5	564	c.355G>T	c.(355-357)Gat>Tat	p.D119Y	RAPGEF3_ENST00000395358.3_Missense_Mutation_p.D161Y|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.D119Y|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.D161Y|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.D161Y|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.D119Y|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.D119Y	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	119					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GCACCTTCATCCAGCAGCACC	0.672000													14	3					4.14922e-12	6.0098e-12	0.004007	1	0
BMPER	168667	broad.mit.edu	37	7	34118554	34118554	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:34118554C>A	ENST00000297161.2	+	13	1538	c.1164C>A	c.(1162-1164)taC>taA	p.Y388*	BMPER_ENST00000426693.1_Nonsense_Mutation_p.Y388*	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	388	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CGTGTCAGTACGTTTTGACAA	0.582000													33	37					8.88839e-20	1.57942e-19	0.002096	1	0
GREB1	9687	broad.mit.edu	37	2	11738826	11738826	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:11738826C>G	ENST00000381486.2	+	15	2473	c.2173C>G	c.(2173-2175)Ctg>Gtg	p.L725V	GREB1_ENST00000234142.5_Missense_Mutation_p.L725V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	725						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGAGCTTGGTCTGAAGAAAGA	0.463000													34	50					0	0	0.004289	0	0
KIAA0754	643314	broad.mit.edu	37	1	39879036	39879037	+	Frame_Shift_Ins	INS	-	-	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:39879036_39879037insC	ENST00000530275.1	+	1	2886_2887	c.2691_2692insC	c.(2689-2694)gtccccfs	p.VP897fs	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000361689.2_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	897	Ala-rich.							p.E901fs*190(1)		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)			CTGCTGCAGTGCCCCCCCCAGA	0.728													3	4	---	---	---	---					
TGFBR3	7049	broad.mit.edu	37	1	92181945	92181945	+	Frame_Shift_Del	DEL	A	A	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:92181945delA	ENST00000212355.4	-	12	2179	c.1714delT	c.(1714-1716)gcfs	p.C572fs	TGFBR3_ENST00000370399.2_Frame_Shift_Del_p.C571fs|TGFBR3_ENST00000525962.1_Frame_Shift_Del_p.C572fs	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	572	ZP.				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TGAAGGCTGCAATTAAACTGG	0.448													28	4	---	---	---	---					
RBM15	64783	broad.mit.edu	37	1	110884751	110884751	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:110884751delG	ENST00000369784.3	+	1	3624	c.2724delG	c.(2722-2724)gtfs	p.V908fs	RBM15_ENST00000487146.2_Frame_Shift_Del_p.V908fs|RBM15_ENST00000602849.1_Frame_Shift_Del_p.V908fs	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	908	SPOC.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	p.G910fs*41(1)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCCTCCCTGTGGGGGGCAACA	0.557			T	MKL1	acute megakaryocytic leukemia								41	10	---	---	---	---					
ADAM30	11085	broad.mit.edu	37	1	120436750	120436750	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:120436750delG	ENST00000369400.1	-	1	2368	c.2210delC	c.(2209-2211)aafs	p.T737fs		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	737	5 X 9 AA approximate repeats.		T -> A (in dbSNP:rs35273427).		proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TACAGTTTTTGTTTTAGATTC	0.363													85	30	---	---	---	---					
NMNAT2	23057	broad.mit.edu	37	1	183255865	183255865	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:183255865delC	ENST00000287713.6	-	5	714	c.380delG	c.(379-381)gafs	p.G127fs	NMNAT2_ENST00000294868.4_Frame_Shift_Del_p.G122fs|NMNAT2_ENST00000473046.1_5'UTR	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	127					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						TTGTGGCTGTCCGATCACAGG	0.522													35	49	---	---	---	---					
OR2T34	127068	broad.mit.edu	37	1	248737718	248737718	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:248737718delC	ENST00000328782.2	-	1	362	c.341delG	c.(340-342)gafs	p.G114fs		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	114					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)			AACCTCAGCTCCAGCCAGGGT	0.562													27	65	---	---	---	---					
CNTN4	152330	broad.mit.edu	37	3	2967431	2967431	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:2967431delG	ENST00000397461.1	+	12	1710	c.1326delG	c.(1324-1326)aafs	p.K443fs	CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000427331.1_Frame_Shift_Del_p.K443fs|CNTN4_ENST00000418658.1_Frame_Shift_Del_p.K443fs|CNTN4_ENST00000358480.3_Frame_Shift_Del_p.K224fs|CNTN4_ENST00000448906.2_Frame_Shift_Del_p.K115fs|CNTN4_ENST00000397459.2_Frame_Shift_Del_p.K115fs	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	443	Ig-like C2-type 5.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ACACCTGGAAGAAAGGAAGGG	0.338													46	9	---	---	---	---					
SLC6A1	6529	broad.mit.edu	37	3	11059079	11059079	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:11059079delC	ENST00000287766.4	+	3	603	c.182delC	c.(181-183)gcfs	p.A61fs	SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron|SLC6A1_ENST00000462473.1_Intron	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	61					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GTGGGCTATGCCATCGGCCTG	0.632													35	6	---	---	---	---					
IMPG2	50939	broad.mit.edu	37	3	100988399	100988400	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:100988399_100988400insA	ENST00000193391.7	-	8	1033_1034	c.846_847insT	c.(844-849)acggttfs	p.V283fs		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	283	SEA 1.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CCTGGTAACCCAGTAAATGCAT	0.262													15	43	---	---	---	---					
NEIL3	55247	broad.mit.edu	37	4	178262723	178262723	+	Frame_Shift_Del	DEL	T	T	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:178262723delT	ENST00000264596.3	+	6	914	c.796delT	c.(796-798)ttfs	p.F266fs		NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	266					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		TGTGTGCCGCTTTGGGGACAA	0.393								Base excision repair (BER), DNA glycosylases					29	9	---	---	---	---					
PCDHA2	56146	broad.mit.edu	37	5	140175318	140175319	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:140175318_140175319insT	ENST00000526136.1	+	1	769_770	c.769_770insT	c.(769-771)tggfs	p.W257fs	PCDHA2_ENST00000378132.1_Frame_Shift_Ins_p.W257fs|PCDHA2_ENST00000520672.2_Frame_Shift_Ins_p.W257fs|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATACGGCAAATGGGACCTTA	0.396													31	10	---	---	---	---					
DRD1	1812	broad.mit.edu	37	5	174869713	174869713	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:174869713delC	ENST00000393752.2	-	2	1382	c.390delG	c.(388-390)cgfs	p.R130fs		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	130					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	TTCTCTCATACCGGAAAGGGC	0.537													22	12	---	---	---	---					
ZNF318	24149	broad.mit.edu	37	6	43306801	43306801	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:43306801delG	ENST00000361428.2	-	10	5012	c.4935delC	c.(4933-4935)ccfs	p.P1645fs	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1645					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TTTTTGCAATGGGCTTTTCAG	0.488													66	29	---	---	---	---					
GPR110	266977	broad.mit.edu	37	6	46979916	46979917	+	Frame_Shift_Ins	INS	-	-	A	rs149395001		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:46979916_46979917insA	ENST00000371253.2	-	10	1157_1158	c.942_943insT	c.(940-945)attaggfs	p.R315fs	GPR110_ENST00000283297.5_Frame_Shift_Ins_p.R118fs|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	315					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GCATTGCCTACAATCATACTGA	0.411													27	63	---	---	---	---					
GCLC	2729	broad.mit.edu	37	6	53373448	53373449	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:53373448_53373449insA	ENST00000229416.6	-	8	1372_1373	c.889_890insT	c.(889-891)gggfs	p.G297fs		NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	297					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)	AATCACTCCCCAGCGACAATCA	0.446													22	85	---	---	---	---					
PHF3	23469	broad.mit.edu	37	6	64422676	64422676	+	Frame_Shift_Del	DEL	C	C	-	rs149370303		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:64422676delC	ENST00000262043.3	+	16	5532	c.5192delC	c.(5191-5193)ttfs	p.S1731fs	PHF3_ENST00000393387.1_Frame_Shift_Del_p.S1731fs			Q92576	PHF3_HUMAN	PHD finger protein 3	1731					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATACAGACTTCTCAAGCAGAA	0.393													15	16	---	---	---	---					
HOXA13	3209	broad.mit.edu	37	7	27238965	27238965	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:27238965delC	ENST00000222753.4	-	1	760	c.732delG	c.(730-732)cafs	p.Q244fs	HOTTIP_ENST00000421733.1_RNA	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	244					skeletal system development	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						CAGGCATGGGCTGATGGTGGT	0.667			T	NUP98	AML								22	23	---	---	---	---					
PON2	5445	broad.mit.edu	37	7	95039225	95039225	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:95039225delG	ENST00000536183.1	-	6	929	c.746delC	c.(745-747)tafs	p.S249fs	PON2_ENST00000222572.3_Frame_Shift_Del_p.S228fs|PON2_ENST00000433091.2_Frame_Shift_Del_p.S216fs|PON2_ENST00000483292.1_5'UTR	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	paraoxonase 2	228					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			ATCATCAGGTGAAATATTGAT	0.353													40	111	---	---	---	---					
NAPEPLD	222236	broad.mit.edu	37	7	102769241	102769242	+	Splice_Site	INS	-	-	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:102769241_102769242insA	ENST00000417955.1	-	2	139		c.e2-2		NAPEPLD_ENST00000455523.2_Splice_Site|NAPEPLD_ENST00000465647.1_Splice_Site|NAPEPLD_ENST00000341533.4_Splice_Site|NAPEPLD_ENST00000427257.1_Splice_Site			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D						phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGTGAAGAACTAAAAAAAACAA	0.337													16	51	---	---	---	---					
LAMB4	22798	broad.mit.edu	37	7	107745057	107745057	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:107745057delC	ENST00000388781.3	-	9	961	c.878delG	c.(877-879)gtfs	p.G293fs	LAMB4_ENST00000414450.2_Frame_Shift_Del_p.G293fs|LAMB4_ENST00000388780.3_Frame_Shift_Del_p.G293fs|LAMB4_ENST00000205386.4_Frame_Shift_Del_p.G293fs	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	293	Laminin EGF-like 1.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CACACACTGACCGTGAACCTG	0.502													62	178	---	---	---	---					
EPHA1	2041	broad.mit.edu	37	7	143096462	143096462	+	Frame_Shift_Del	DEL	A	A	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:143096462delA	ENST00000275815.3	-	5	966	c.880delT	c.(880-882)gtfs	p.C294fs		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	294	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CACGTGAGACAATGGGGTGTG	0.602													10	20	---	---	---	---					
DCAF4L2	138009	broad.mit.edu	37	8	88885757	88885757	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:88885757delC	ENST00000319675.3	-	1	539	c.443delG	c.(442-444)gafs	p.G148fs		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	148										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						ATCTGCAAGTCCCACGAAGCA	0.547													9	56	---	---	---	---					
ABRA	137735	broad.mit.edu	37	8	107782411	107782411	+	Frame_Shift_Del	DEL	G	G	-	rs149782926		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:107782411delG	ENST00000311955.3	-	1	62	c.8delC	c.(7-9)cgfs	p.P3fs		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	3					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CTTTTCGCCCGGAGCCATGCT	0.592													37	13	---	---	---	---					
RANBP6	26953	broad.mit.edu	37	9	6012689	6012690	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:6012689_6012690insT	ENST00000259569.5	-	1	2928_2929	c.2918_2919insA	c.(2917-2919)agtfs	p.S973fs		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	973					protein transport	cytoplasm|nucleus	binding	p.N973fs*12(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TAGCAATGACATTTTTTTTGGT	0.356													13	27	---	---	---	---					
FGD3	89846	broad.mit.edu	37	9	95738685	95738685	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:95738685delG	ENST00000375482.3	+	3	643	c.147delG	c.(145-147)ctfs	p.L49fs	FGD3_ENST00000337352.6_Frame_Shift_Del_p.L49fs|FGD3_ENST00000416701.2_Frame_Shift_Del_p.L49fs|FGD3_ENST00000468206.1_3'UTR	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	49					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CTGTCAGCCTGGCTGCAGCAG	0.647													7	5	---	---	---	---					
OR13C8	138802	broad.mit.edu	37	9	107331774	107331774	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:107331774delC	ENST00000335040.1	+	1	326	c.326delC	c.(325-327)gcfs	p.A109fs		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						GCCATGGGGGCCACGGAGTGC	0.498													23	50	---	---	---	---					
ACTL7B	10880	broad.mit.edu	37	9	111617354	111617354	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:111617354delC	ENST00000374667.3	-	1	1885	c.857delG	c.(856-858)gcfs	p.G286fs		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	286						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GATGAGTTTGCCGTCCGGGAG	0.647													24	47	---	---	---	---					
ZNF488	118738	broad.mit.edu	37	10	48371143	48371143	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:48371143delG	ENST00000395702.2	+	2	838	c.611delG	c.(610-612)tgfs	p.W204fs	ZNF488_ENST00000586537.1_Frame_Shift_Del_p.W97fs|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						CTCGCTTGTTGGGGTCGACTT	0.542													11	38	---	---	---	---					
SORCS3	22986	broad.mit.edu	37	10	106802834	106802834	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:106802834delG	ENST00000369701.3	+	5	1203	c.976delG	c.(976-978)gafs	p.G326fs		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	326						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)		CATGGACTTTGGAAGACGGTG	0.433													31	41	---	---	---	---					
STIM1	6786	broad.mit.edu	37	11	4045158	4045159	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:4045158_4045159insT	ENST00000300737.4	+	3	895_896	c.326_327insT	c.(325-327)cggfs	p.R109fs	STIM1_ENST00000527484.1_3'UTR|STIM1_ENST00000527651.1_Frame_Shift_Ins_p.R109fs	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	109					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		AGCACCTTCCATGGTGAGGATA	0.485													14	27	---	---	---	---					
AHNAK	79026	broad.mit.edu	37	11	62297223	62297224	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:62297223_62297224insA	ENST00000378024.4	-	5	4939_4940	c.4665_4666insT	c.(4663-4668)ctaagcfs	p.S1556fs	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1556					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTGGAGCTTCAAGATTCACAT	0.460													56	141	---	---	---	---					
MALAT1	378938	broad.mit.edu	37	11	65273716	65273717	+	RNA	INS	-	-	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:65273716_65273717insG	ENST00000534336.1	+	0	8484_8485					NR_002819.2																						TGCTAGTTCTTGGAGTTTTGGG	0.416													27	45	---	---	---	---					
NXPE1	120400	broad.mit.edu	37	11	114401102	114401103	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:114401102_114401103insA	ENST00000536312.1	-	6	1519_1520	c.627_628insT	c.(625-630)ttttaafs	p.*210fs	NXPE1_ENST00000251921.2_Frame_Shift_Ins_p.*68fs|NXPE1_ENST00000424269.1_Frame_Shift_Ins_p.*210fs					neurexophilin and PC-esterase domain family, member 1																		GTGCCATTAACAAATTTGCCTT	0.470													13	45	---	---	---	---					
SOX5	6660	broad.mit.edu	37	12	23728652	23728652	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:23728652delG	ENST00000546136.1	-	9	1248	c.1246delC	c.(1246-1248)tcfs	p.L416fs	SOX5_ENST00000451604.2_Frame_Shift_Del_p.L429fs|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000537393.1_Frame_Shift_Del_p.L394fs|SOX5_ENST00000309359.1_Frame_Shift_Del_p.L416fs|SOX5_ENST00000545921.1_Frame_Shift_Del_p.L419fs|SOX5_ENST00000396007.2_Frame_Shift_Del_p.L43fs|SOX5_ENST00000381381.2_Intron			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	429					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GAGGCTTTGAGGGGGCCTGCC	0.488													31	15	---	---	---	---					
ZNF10	7556	broad.mit.edu	37	12	133727739	133727739	+	Splice_Site	DEL	G	G	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:133727739delG	ENST00000248211.6	+	3	381	c.160_splice	c.e3+1	p.L53_splice	CTD-2140B24.4_ENST00000540096.2_Splice_Site_p.L53_splice|ZNF10_ENST00000402932.2_Splice_Site_p.L53_splice|ZNF268_ENST00000416488.1_Splice_Site_p.L53_splice|ZNF10_ENST00000426665.2_Splice_Site_p.L53_splice	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TGGTTTCCTTGGGTAAGACTA	0.463													11	38	---	---	---	---					
DHRS12	79758	broad.mit.edu	37	13	52364174	52364174	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:52364174delC	ENST00000218981.1	-	4	385	c.274delG	c.(274-276)aafs	p.E92fs	DHRS12_ENST00000444610.2_Frame_Shift_Del_p.E141fs|DHRS12_ENST00000490949.1_5'UTR|DHRS12_ENST00000280056.2_Frame_Shift_Del_p.E92fs	NM_024705.2	NP_078981.1	A0PJE2	DHR12_HUMAN	dehydrogenase/reductase (SDR family) member 12	141							binding|oxidoreductase activity			cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		AAGTTTTTTTCAAGTCCATCT	0.303													11	29	---	---	---	---					
SERPINA6	866	broad.mit.edu	37	14	94770871	94770871	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:94770871delG	ENST00000341584.3	-	5	1248	c.1102delC	c.(1102-1104)tafs	p.L368fs		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	368					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GTCAGGTTTAGGGTGACCCCA	0.522													35	4	---	---	---	---					
HERC2	8924	broad.mit.edu	37	15	28377876	28377876	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:28377876delC	ENST00000261609.7	-	80	12439	c.12331delG	c.(12331-12333)acfs	p.D4111fs		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4111					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTGTAGAGGTCCCCGGCTGCT	0.642													35	50	---	---	---	---					
MGA	23269	broad.mit.edu	37	15	42021366	42021366	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:42021366delG	ENST00000219905.7	+	11	3843	c.3662delG	c.(3661-3663)cgfs	p.R1221fs	MGA_ENST00000545763.1_Frame_Shift_Del_p.R1221fs|MGA_ENST00000570161.1_Frame_Shift_Del_p.R1221fs|MGA_ENST00000566586.1_Frame_Shift_Del_p.R1221fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.R1221fs	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1221						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TTACAGATTCGGGAAGAGGAC	0.363													9	10	---	---	---	---					
MORF4L1	10933	broad.mit.edu	37	15	79189377	79189378	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:79189377_79189378insT	ENST00000331268.5	+	13	1261_1262	c.1057_1058insT	c.(1057-1059)tccfs	p.S353fs	MORF4L1_ENST00000558502.1_Frame_Shift_Ins_p.S226fs|MORF4L1_ENST00000379535.4_Frame_Shift_Ins_p.S339fs|MORF4L1_ENST00000561171.1_3'UTR|MORF4L1_ENST00000559345.1_Frame_Shift_Ins_p.S226fs|MORF4L1_ENST00000426013.2_Frame_Shift_Ins_p.S314fs	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	353					double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						TTATGAAGTGGCTCCTCCTGAG	0.376													13	29	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72829861	72829862	+	Frame_Shift_Ins	INS	-	-	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:72829861_72829862insC	ENST00000268489.5	-	9	7391_7392	c.6719_6720insG	c.(6718-6720)gagfs	p.E2240fs	ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.E1326fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2240					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ACCTCTTGCTTCCCCAGTACTC	0.515													45	61	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74372914	74372914	+	RNA	DEL	G	G	-	rs67181940		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:74372914delG	ENST00000429810.2	-	0	1404																											AACGTAGtttgtttttttttt	0.433													4	8	---	---	---	---					
DNAH9	1770	broad.mit.edu	37	17	11645507	11645507	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:11645507delG	ENST00000262442.3	+	30	6056	c.5988delG	c.(5986-5988)gtfs	p.V1997fs	DNAH9_ENST00000454412.2_Frame_Shift_Del_p.V1997fs	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1997	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTGCAATGGTGGTTCCAGACT	0.453													61	15	---	---	---	---					
LRRC37B	114659	broad.mit.edu	37	17	30380301	30380301	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:30380301delG	ENST00000327564.7	+	12	2940	c.2879delG	c.(2878-2880)agfs	p.R960fs	LRRC37B_ENST00000394713.3_Frame_Shift_Del_p.R882fs|LRRC37B_ENST00000584368.1_Frame_Shift_Del_p.R894fs|LRRC37B_ENST00000341671.7_Frame_Shift_Del_p.R933fs|LRRC37B_ENST00000543378.2_Frame_Shift_Del_p.R851fs			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	933						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TCACATAAAAGGGCATCAGAA	0.338													15	41	---	---	---	---					
USH1G	124590	broad.mit.edu	37	17	72916480	72916480	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:72916480delC	ENST00000319642.1	-	2	633	c.451delG	c.(451-453)ccfs	p.A151fs		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	151					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)					TGCAGCTTGGCGCACTCGCGG	0.677													14	65	---	---	---	---					
IGFLR1	79713	broad.mit.edu	37	19	36230358	36230358	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:36230358delG	ENST00000592537.1	-	5	991	c.891delC	c.(889-891)acfs	p.T297fs	IGFLR1_ENST00000592889.1_Frame_Shift_Del_p.T109fs|IGFLR1_ENST00000246532.1_Frame_Shift_Del_p.T297fs|IGFLR1_ENST00000344990.3_Frame_Shift_Del_p.T109fs|IGFLR1_ENST00000588992.1_Frame_Shift_Del_p.T129fs|AD000671.6_ENST00000589807.1_3'UTR			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	297						integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						AATAGGCAAAGGTGGACCAGG	0.647													26	26	---	---	---	---					
SCAF1	58506	broad.mit.edu	37	19	50158112	50158113	+	Frame_Shift_Ins	INS	-	-	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:50158112_50158113insG	ENST00000360565.3	+	9	3727_3728	c.3603_3604insG	c.(3601-3606)cggggafs	p.RG1201fs		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1201	Necessary for interaction with the CTD domain of POLR2A.				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)		CTGAGGGCCGTGGGGACACAGA	0.663													8	19	---	---	---	---					
SIGLEC8	27181	broad.mit.edu	37	19	51961617	51961619	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:51961617_51961619delGCA	ENST00000321424.3	-	1	89_91	c.23_25delTGC	c.(22-27)ccc>c	p.LP8del	SIGLEC8_ENST00000340550.5_In_Frame_Del_p.LP8del|SIGLEC8_ENST00000430817.1_In_Frame_Del_p.LP8del	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	8					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)		CAGagcaggggcagcagcagcag	0.596													7	103	---	---	---	---					
MIR518D	574489	broad.mit.edu	37	19	54238193	54238193	+	RNA	DEL	C	C	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:54238193delC	ENST00000385014.1	+	0	63					NR_030211.1																						CAAAGCGCTTCCCTTTGGAGC	0.433													38	45	---	---	---	---					
PRKCG	5582	broad.mit.edu	37	19	54401359	54401360	+	Frame_Shift_Ins	INS	-	-	G	rs142359778		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:54401359_54401360insG	ENST00000263431.3	+	10	1368_1369	c.1086_1087insG	c.(1084-1089)ttggaafs	p.E363fs	PRKCG_ENST00000542049.1_Frame_Shift_Ins_p.E250fs|PRKCG_ENST00000540413.1_Frame_Shift_Ins_p.E363fs|PRKCG_ENST00000536044.1_3'UTR	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	363	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		AAGGCAGTTTTGGGAAGGTTGG	0.569													14	19	---	---	---	---					
TNNI3	7137	broad.mit.edu	37	19	55665575	55665576	+	Splice_Site	INS	-	-	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:55665575_55665576insA	ENST00000344887.5	-	7	515		c.e7-1		TNNI3_ENST00000588882.1_Splice_Site	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)						cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GATCTGCAATCTGGGGGCAAAC	0.530													26	29	---	---	---	---					
SSTR4	6754	broad.mit.edu	37	20	23016582	23016582	+	Frame_Shift_Del	DEL	G	G	-	rs35140595		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:23016582delG	ENST00000255008.3	+	1	526	c.462delG	c.(460-462)gcfs	p.A155fs	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	155					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTCTGCGCGCGGCGACCTACC	0.657													20	27	---	---	---	---					
PABPC1L	80336	broad.mit.edu	37	20	43561038	43561038	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:43561038delC	ENST00000255136.3	+	9	1377	c.1295delC	c.(1294-1296)gcfs	p.A432fs	PABPC1L_ENST00000372819.1_5'UTR|PABPC1L_ENST00000217073.2_Frame_Shift_Del_p.A432fs|PABPC1L_ENST00000537323.1_Intron|PABPC1L_ENST00000372824.1_5'UTR|PABPC1L_ENST00000490798.1_Intron	NM_001124756.1	NP_001118228.1	Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	432	Pro-rich.						nucleotide binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						ACCCAGCCTGCCCCCAGGTGG	0.632													15	38	---	---	---	---					
PI3	5266	broad.mit.edu	37	20	43804522	43804522	+	Frame_Shift_Del	DEL	A	A	-	rs2664581	byFrequency	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:43804522delA	ENST00000243924.3	+	2	147	c.100delA	c.(100-102)ctfs	p.T34fs		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	34	2 X tandem repeats of SVP-1 like motif.		T -> P (in dbSNP:rs2664581).		copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				AGGTCAAGACACTGTCAAAGG	0.453													30	71	---	---	---	---					
WFDC8	90199	broad.mit.edu	37	20	44187578	44187578	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:44187578delC	ENST00000357199.4	-	3	268	c.190delG	c.(190-192)acfs	p.D64fs	WFDC8_ENST00000289953.2_Frame_Shift_Del_p.D64fs	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	64	WAP 1.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				TTACATGAGTCCGGAAGTTCA	0.448													48	75	---	---	---	---					
UBE2C	11065	broad.mit.edu	37	20	44441431	44441431	+	Frame_Shift_Del	DEL	A	A	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:44441431delA	ENST00000356455.4	+	1	217	c.97delA	c.(97-99)aafs	p.K33fs	UBE2C_ENST00000405520.1_5'UTR|UBE2C_ENST00000352551.5_Frame_Shift_Del_p.K33fs|UBE2C_ENST00000335046.3_Frame_Shift_Del_p.K33fs|UBE2C_ENST00000243893.6_Frame_Shift_Del_p.K33fs	NM_007019.2	NP_008950.1	O00762	UBE2C_HUMAN	ubiquitin-conjugating enzyme E2C	33					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization	anaphase-promoting complex|cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(2)|lung(2)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				TCCGGTGGGCAAAAGGTGAGT	0.692													2	4	---	---	---	---					
TTLL12	23170	broad.mit.edu	37	22	43570312	43570312	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:43570312delC	ENST00000216129.6	-	8	1195	c.1132delG	c.(1132-1134)cafs	p.A378fs		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	378	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				GGGCCACCTGCCCGGCGCGCG	0.652													22	47	---	---	---	---					
MAPK8IP2	23542	broad.mit.edu	37	22	51041769	51041771	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:51041769_51041771delGAG	ENST00000329492.3	+	3	406_408	c.289_291delGAG	c.(289-291)del	p.E103del	MAPK8IP2_ENST00000399908.2_5'UTR|MAPK8IP2_ENST00000008876.5_In_Frame_Del_p.E76del|MAPK8IP2_ENST00000341339.4_Intron|MAPK8IP2_ENST00000399912.1_5'UTR|MAPK8IP2_ENST00000442429.2_In_Frame_Del_p.E103del	NM_012324.3	NP_036456.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	103	Asp/Glu-rich (acidic).				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding	p.E97delE(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ggacgaggaagaggaggaggagg	0.631													3	4	---	---	---	---					
TSIX	9383	broad.mit.edu	37	X	73044656	73044656	+	RNA	DEL	C	C	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:73044656delC	ENST00000604411.1	+	0	32617				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						CTTAACCTCACCAGTAAAGTC	0.313													16	56	---	---	---	---					
IRS4	8471	broad.mit.edu	37	X	107976481	107976482	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:107976481_107976482insA	ENST00000372129.2	-	1	3169_3170	c.3093_3094insT	c.(3091-3096)ctctgafs	p.*1032fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1032						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCACTGTCAGCAAGAGCCATGG	0.485													59	56	---	---	---	---					
GRIA3	2892	broad.mit.edu	37	X	122616661	122616661	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:122616661delC	ENST00000264357.5	+	15	2743	c.2451delC	c.(2449-2451)agfs	p.S817fs	GRIA3_ENST00000371251.1_Frame_Shift_Del_p.S817fs|GRIA3_ENST00000542149.1_3'UTR|GRIA3_ENST00000371256.5_Frame_Shift_Del_p.S817fs	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	817					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	ACAAGACCAGCGCTCTGAGCC	0.433													107	71	---	---	---	---					
TMLHE	55217	broad.mit.edu	37	X	154754199	154754200	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:154754199_154754200insT	ENST00000334398.3	-	3	420_421	c.275_276insA	c.(274-276)ccgfs	p.P92fs	TMLHE_ENST00000369439.4_Frame_Shift_Ins_p.P92fs|TMLHE-AS1_ENST00000452506.1_RNA	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	92					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	CCAGGCTGCGCTGGTGAGTCTT	0.490													232	101	---	---	---	---