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
BMP10	27302	broad.mit.edu	37	2	69092837	69092837	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:69092837A>G	ENST00000295379.1	-	2	1359	c.1201T>C	c.(1201-1203)Tat>Cat	p.Y401H		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	401					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TTGTCTAAATAGAGGATGGAG	0.463000													19	99					0	0	1	0	0
KLK10	5655	broad.mit.edu	37	19	51518120	51518120	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:51518120G>A	ENST00000309958.3	-	6	985	c.767C>T	c.(766-768)cCa>cTa	p.P256L	KLK10_ENST00000358789.3_Missense_Mutation_p.P256L|KLK10_ENST00000391805.1_Missense_Mutation_p.P256L	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	256	Peptidase S1.				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GTAGACAGCTGGATGCTGGGC	0.552000													12	42					0	0	1	0	0
ACBD3	64746	broad.mit.edu	37	1	226340051	226340051	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:226340051C>T	ENST00000366812.5	-	7	1414	c.1360G>A	c.(1360-1362)Gac>Aac	p.D454N	RP11-275I14.4_ENST00000440540.1_RNA	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	454	GOLD.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		TCCTCCTCGTCGTCATCGCTG	0.488000													11	113					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21892169	21892169	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr7:21892169G>A	ENST00000328843.6	+	68	11033	c.11002G>A	c.(11002-11004)Gag>Aag	p.E3668K	DNAH11_ENST00000409508.3_Missense_Mutation_p.E3661K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3668	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTCTGCGGCAGAGGGAAGCTT	0.458000									Kartagener syndrome				7	121					0	0	1	0	0
GPR151	134391	broad.mit.edu	37	5	145895250	145895250	+	Missense_Mutation	SNP	G	G	A	rs149603566		TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr5:145895250G>A	ENST00000311104.2	-	1	503	c.427C>T	c.(427-429)Cca>Tca	p.P143S		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	143						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCTTGGCTGGGTCACTTGCA	0.517000													4	37					0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18456659	18456659	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr3:18456659C>T	ENST00000338745.6	-	5	2317	c.583G>A	c.(583-585)Gac>Aac	p.D195N	SATB1_ENST00000475083.1_5'UTR|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Missense_Mutation_p.D195N|SATB1_ENST00000417717.2_Missense_Mutation_p.D195N	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	195	PDZ-like dimerization domain.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTCAGTAAGTCCTTCAGAGCA	0.418000													4	58					0	0	1	0	0
ERAL1	26284	broad.mit.edu	37	17	27185487	27185487	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:27185487G>T	ENST00000254928.5	+	6	791	c.694G>T	c.(694-696)Gtc>Ttc	p.V232F		NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	232	G.				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			GATCCCTAGTGTCCTGGTCAT	0.547000													19	84					6.49762e-13	7.64269e-13	1	1	0
FGG	2266	broad.mit.edu	37	4	155528028	155528028	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr4:155528028C>T	ENST00000404648.3	-	8	1197	c.958G>A	c.(958-960)Gat>Aat	p.D320N	FGG_ENST00000407946.1_Missense_Mutation_p.D328N|FGG_ENST00000336098.3_Missense_Mutation_p.D320N|FGG_ENST00000405164.1_Missense_Mutation_p.D328N	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	320	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TCGCCAAAATCAAAGCCATCA	0.468000													12	69					0	0	1	0	0
EPC1	80314	broad.mit.edu	37	10	32576199	32576199	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr10:32576199C>T	ENST00000319778.6	-	7	1281	c.979G>A	c.(979-981)Gat>Aat	p.D327N	EPC1_ENST00000263062.8_Missense_Mutation_p.D327N|EPC1_ENST00000375110.2_Missense_Mutation_p.D277N	NM_001272004.1|NM_001272019.2	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	327					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TCGGCTTTATCTTGCTGCAAC	0.403000													8	66					0	0	1	0	0
ACOT2	10965	broad.mit.edu	37	14	74040232	74040232	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr14:74040232A>G	ENST00000238651.5	+	2	966	c.784A>G	c.(784-786)Atg>Gtg	p.M262V	ACOT2_ENST00000538782.1_Missense_Mutation_p.M65V	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	262					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		CCCCAAGACCATGGAGACGCT	0.488000													14	64					0	0	1	0	0
GDPD4	220032	broad.mit.edu	37	11	76944075	76944075	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr11:76944075A>G	ENST00000315938.4	-	13	1634	c.1384T>C	c.(1384-1386)Ttc>Ctc	p.F462L	GDPD4_ENST00000376217.2_Missense_Mutation_p.F462L	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	462					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CTCACCATGAAGAAGTGAGGG	0.552000													12	22					0	0	1	0	0
SPATA5	166378	broad.mit.edu	37	4	124235190	124235190	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr4:124235190C>G	ENST00000274008.4	+	16	2722	c.2653C>G	c.(2653-2655)Caa>Gaa	p.Q885E		NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5						cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TGAAGATTATCAAGAGAAGAG	0.348000													7	14					0	0	1	0	0
KRT20	54474	broad.mit.edu	37	17	39036989	39036989	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:39036989C>T	ENST00000167588.3	-	3	548	c.507G>A	c.(505-507)gtG>gtA	p.V169V		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	169	Coil 1B.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GATCAGCTTCCACTGTTAGAC	0.383000													4	95					0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98416660	98416660	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr10:98416660C>T	ENST00000339364.5	-	3	581	c.462G>A	c.(460-462)gaG>gaA	p.E154E	PIK3AP1_ENST00000371110.2_5'UTR|PIK3AP1_ENST00000468783.1_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	154						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CGTCCTCAGGCTCAGTGTCAG	0.552000													4	23					0	0	1	0	0
AP3S2	10239	broad.mit.edu	37	15	90378798	90378798	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr15:90378798G>A	ENST00000336418.4	-	6	923	c.531C>T	c.(529-531)atC>atT	p.I177I	AP3S2_ENST00000560940.1_Intron|AP3S2_ENST00000560771.1_5'UTR|AP3S2_ENST00000558011.1_Silent_p.I189I|C15orf38-AP3S2_ENST00000398333.3_Silent_p.I378I	NM_005829.4	NP_005820.1			adaptor-related protein complex 3, sigma 2 subunit											NS(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(1)	6	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			CGCCAATGTTGATGTTCCGAG	0.488000													10	113					0	0	1	0	0
SLC1A2	6506	broad.mit.edu	37	11	35287049	35287049	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr11:35287049C>A	ENST00000606205.1	-	10	1781	c.1678G>T	c.(1678-1680)Gag>Tag	p.E560*	SLC1A2_ENST00000479543.1_Intron|SLC1A2_ENST00000395750.1_Intron|SLC1A2_ENST00000395753.1_Intron|SLC1A2_ENST00000278379.3_Intron			P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	0					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	ATACAAGTCTCGATATCCATG	0.353000													15	33					3.27435e-08	3.74398e-08	1	1	0
PVRL4	81607	broad.mit.edu	37	1	161047385	161047385	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:161047385G>T	ENST00000368012.3	-	3	890	c.588C>A	c.(586-588)ttC>ttA	p.F196L		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	196	Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGGAGTGCTTGAAGGAACGGC	0.642000													10	86					1.58986e-06	1.77545e-06	1	1	0
WBSCR28	135886	broad.mit.edu	37	7	73279451	73279451	+	Silent	SNP	A	A	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr7:73279451A>G	ENST00000320531.2	+	2	237	c.201A>G	c.(199-201)ggA>ggG	p.G67G		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	67			G -> V (in dbSNP:rs56933025).			integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				TACCCCTGGGAGCTGCAGCCT	0.652000													10	153					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160097472	160097472	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:160097472C>T	ENST00000361216.3	+	8	968	c.879C>T	c.(877-879)atC>atT	p.I293I	ATP1A2_ENST00000392233.3_Silent_p.I293I	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	293					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCCAGCTGATCACAGGGGTCG	0.582000													8	82					0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17552634	17552634	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:17552634G>A	ENST00000375471.4	+	6	725	c.633G>A	c.(631-633)gtG>gtA	p.V211V		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	211					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	CCAAAAGAGTGAGGGTCTTCT	0.537000													9	48					0	0	1	0	0
LOC643923	643923	broad.mit.edu	37	11	107463112	107463112	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr11:107463112G>C	ENST00000600612.1	+	2	323	c.310G>C	c.(310-312)Gag>Cag	p.E104Q	ELMOD1_ENST00000443271.2_Intron|ELMOD1_ENST00000531234.1_Intron|ELMOD1_ENST00000529675.1_3'UTR|ELMOD1_ENST00000265840.7_Intron																							GTCATTTGGAGAGACCAATTT	0.493000													7	11					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32850608	32850608	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr13:32850608C>T	ENST00000380250.3	+	57	8790	c.8294C>T	c.(8293-8295)tCa>tTa	p.S2765L	FRY_ENST00000542859.1_Missense_Mutation_p.S135L	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2765					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TAGCTCCTTTCATGTGGACTT	0.388000													6	73					0	0	1	0	0
SLC25A10	1468	broad.mit.edu	37	17	79673992	79673992	+	Silent	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:79673992G>C	ENST00000571730.1	+	4	533	c.402G>C	c.(400-402)ctG>ctC	p.L134L	SLC25A10_ENST00000541223.1_Silent_p.L134L|MRPL12_ENST00000333676.3_Silent_p.L134L			Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	0					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	CCGTCCGCCTGACCGAGGCGA	0.562000													3	20					0	0	1	0	0
IGHV3-20	28445	broad.mit.edu	37	14	106667770	106667770	+	RNA	SNP	G	G	C	rs113201117		TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr14:106667770G>C	ENST00000390606.2	-	0	223																											GGCGGACCCAGCTCATGCCAT	0.572000													13	107					0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24801809	24801809	+	Missense_Mutation	SNP	G	G	C	rs146782316	by1000genomes	TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr16:24801809G>C	ENST00000395799.3	+	6	1975	c.1846G>C	c.(1846-1848)Gag>Cag	p.E616Q	TNRC6A_ENST00000315183.7_Missense_Mutation_p.E616Q	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	616	Sufficient for interaction with EIF2C1 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ACCCAGCGTTGAGTGGAACAA	0.458000													4	46					0	0	1	0	0
KRT39	390792	broad.mit.edu	37	17	39120743	39120743	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:39120743G>A	ENST00000355612.2	-	2	541	c.506C>T	c.(505-507)tCg>tTg	p.S169L	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	169	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				GTCAATTTGCGAGACCAGTCT	0.453000													8	111					0	0	1	0	0
ENTPD8	377841	broad.mit.edu	37	9	140332528	140332528	+	Silent	SNP	G	G	A	rs113099702		TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr9:140332528G>A	ENST00000371506.2	-	3	318	c.135C>T	c.(133-135)atC>atT	p.I45I	ENTPD8_ENST00000472938.1_Silent_p.I45I|ENTPD8_ENST00000344119.2_Silent_p.I45I	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	45						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		CATCAAACACGATCCCAAACT	0.652000													3	15					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103125378	103125378	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:103125378G>C	ENST00000295269.4	+	6	1931	c.1474G>C	c.(1474-1476)Gag>Cag	p.E492Q		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	492					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CATCAATGAAGAGCTTCATAT	0.368000													13	104					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25443045	25443045	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr20:25443045C>A	ENST00000278886.6	-	20	3629	c.3556G>T	c.(3556-3558)Gag>Tag	p.E1186*	NINL_ENST00000422516.1_Nonsense_Mutation_p.E837*	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1186					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CGAACCACCTCCTCCAGGCTC	0.607000													8	53					0.00307968	0.00324355	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21932042	21932042	+	Splice_Site	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr7:21932042G>C	ENST00000328843.6	+	78	12559		c.e78-1		DNAH11_ENST00000409508.3_Splice_Site			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11						microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGTGGTTCAAGACTGAAGATG	0.473000									Kartagener syndrome				15	435					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53569921	53569921	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr8:53569921C>G	ENST00000025008.5	-	15	2991	c.2468G>C	c.(2467-2469)aGa>aCa	p.R823T	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.R823T|RB1CC1_ENST00000435644.2_Missense_Mutation_p.R823T	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	823					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TACAAATGTTCTAAAGTGGCA	0.338000													7	100					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207644373	207644373	+	Silent	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:207644373C>G	ENST00000367057.3	+	8	1623	c.1434C>G	c.(1432-1434)ctC>ctG	p.L478L	CR2_ENST00000458541.2_Silent_p.L478L|CR2_ENST00000367059.3_Silent_p.L478L|CR2_ENST00000367058.3_Silent_p.L478L	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	478	Sushi 8.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GAAGGCAACTCTTGACAAAAC	0.418000													7	66					0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7048166	7048166	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:7048166G>C	ENST00000356654.4	+	7	3277	c.3040G>C	c.(3040-3042)Gac>Cac	p.D1014H	ATN1_ENST00000396684.2_Missense_Mutation_p.D1014H	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1014					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCTGCGGCCTGACATGTCCTA	0.672000													9	45					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31793087	31793087	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr7:31793087C>T	ENST00000396193.1	-	19	2814	c.2221G>A	c.(2221-2223)Gat>Aat	p.D741N	PDE1C_ENST00000321453.7_Missense_Mutation_p.D681N|PDE1C_ENST00000396191.1_Missense_Mutation_p.D681N	NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	681					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)			GGATGCTCATCAGTTTTCTTT	0.453000													13	123					0	0	1	0	0
CASP1	834	broad.mit.edu	37	11	104905038	104905038	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr11:104905038C>G	ENST00000533400.1	-	2	206	c.171G>C	c.(169-171)ttG>ttC	p.L57F	CASP1_ENST00000353247.5_Intron|CASP1_ENST00000528974.1_Missense_Mutation_p.L18F|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.L57F|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000527979.1_Missense_Mutation_p.L41F|CASP1_ENST00000525825.1_Missense_Mutation_p.L57F|CASP1_ENST00000598974.1_Missense_Mutation_p.L57F|CASP1_ENST00000593315.1_Missense_Mutation_p.L57F|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000526568.1_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.L57F	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	57	CARD.				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	CGGAGTCAATCAAAGCTCGGG	0.448000													18	194					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196709831	196709831	+	Silent	SNP	T	T	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:196709831T>A	ENST00000367429.4	+	18	3105	c.2865T>A	c.(2863-2865)gtT>gtA	p.V955V		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	955	Sushi 16.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GAGAAGAAGTTACGTACAAAT	0.393000													7	84					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61986352	61986352	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr13:61986352A>T	ENST00000409186.1	-	5	3985	c.1880T>A	c.(1879-1881)cTc>cAc	p.L627H	PCDH20_ENST00000409204.4_Missense_Mutation_p.L627H			Q8N6Y1	PCD20_HUMAN	protocadherin 20	600	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CAACACTGTGAGGGCCACAGT	0.458000													14	48					0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38858394	38858394	+	Missense_Mutation	SNP	C	C	T	rs141648079		TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:38858394C>T	ENST00000409235.3	+	25	3023	c.2908C>T	c.(2908-2910)Cgc>Tgc	p.R970C	CATSPERG_ENST00000410018.1_Missense_Mutation_p.R930C|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	970					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.R610S(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CGAAATCTACCGCTTCAACAG	0.587000													16	469					0	0	1	0	0
ZNF223	7766	broad.mit.edu	37	19	44570448	44570448	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:44570448C>T	ENST00000591793.1	+	7	880	c.797C>T	c.(796-798)tCc>tTc	p.S266F	ZNF223_ENST00000434772.3_Missense_Mutation_p.S156F			Q9UK11	ZN223_HUMAN	zinc finger protein 223	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				TGTAAACAATCCTTCAGTGAT	0.438000													7	132					0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2272527	2272527	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr4:2272527C>T	ENST00000290974.2	-	13	2928	c.2589G>A	c.(2587-2589)gtG>gtA	p.V863V	ZFYVE28_ENST00000508471.1_Silent_p.V168V|ZFYVE28_ENST00000515312.1_Silent_p.V793V|ZFYVE28_ENST00000511071.1_Silent_p.V833V	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	863					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GGACCGGCTTCACCTGCCCGT	0.662000													4	19					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149227035	149227035	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:149227035C>G	ENST00000407073.1	+	9	2520	c.1523C>G	c.(1522-1524)cCt>cGt	p.P508R	MBD5_ENST00000404807.1_Missense_Mutation_p.P508R	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	508						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CCATCAAGCCCTTCTACCAAG	0.478000													4	30					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657569	72657569	+	RNA	SNP	A	A	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr7:72657569A>G	ENST00000425256.1	-	0	2342																											ctcctcgtgcacactgtcgat	0.493000													19	61					0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132288319	132288319	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:132288319G>A	ENST00000467992.2	+	1	1083	c.769G>A	c.(769-771)Ggt>Agt	p.G257S	CCDC74A_ENST00000295171.6_Missense_Mutation_p.G155S|CCDC74A_ENST00000409856.3_Intron			Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	155										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TCTTGCGGGCGGTAGCGCCGA	0.637000													4	41					0	0	1	0	0
KAT8	84148	broad.mit.edu	37	16	31131665	31131665	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr16:31131665C>T	ENST00000543774.2	+	4	627	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	KAT8_ENST00000448516.2_Missense_Mutation_p.R98W|KAT8_ENST00000219797.4_Missense_Mutation_p.R98W			Q9H7Z6	MYST1_HUMAN	K(lysine) acetyltransferase 8	98	Chromo.				histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding	p.R98W(2)									TACAGTTAACCGGCGGCTGGA	0.577000													14	51					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49672441	49672441	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr16:49672441G>T	ENST00000561648.1	-	4	675	c.622C>A	c.(622-624)Cac>Aac	p.H208N	ZNF423_ENST00000563137.2_Missense_Mutation_p.H148N|ZNF423_ENST00000262383.2_Missense_Mutation_p.H208N|ZNF423_ENST00000562871.1_Missense_Mutation_p.H148N|ZNF423_ENST00000567169.1_Missense_Mutation_p.H91N|ZNF423_ENST00000535559.1_Missense_Mutation_p.H91N|ZNF423_ENST00000562520.1_Missense_Mutation_p.H148N	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	208					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)				ATCTTGAGGTGGTCGCTGCGG	0.597000													4	18					0.0215528	0.0222106	1	1	0
PLK1	5347	broad.mit.edu	37	16	23698924	23698924	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr16:23698924G>A	ENST00000300093.4	+	6	1282	c.1171G>A	c.(1171-1173)Gag>Aag	p.E391K	CTD-2196E14.5_ENST00000566143.1_RNA	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	391					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CAAGCCCTCGGAGCGTGGGCT	0.607000													7	62					0	0	1	0	0
NT5DC2	64943	broad.mit.edu	37	3	52558548	52558548	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr3:52558548C>G	ENST00000307076.4	-	14	1901	c.1501G>C	c.(1501-1503)Gac>Cac	p.D501H	NT5DC2_ENST00000422318.2_Missense_Mutation_p.D538H|NT5DC2_ENST00000459839.1_Missense_Mutation_p.D513H|NT5DC2_ENST00000307092.4_Missense_Mutation_p.D442H	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	501							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		CAGAGCTGGTCCATCCAGAGG	0.632000													7	42					0	0	1	0	0
PEX12	5193	broad.mit.edu	37	17	33904370	33904370	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:33904370G>A	ENST00000225873.4	-	2	974	c.367C>T	c.(367-369)Ctt>Ttt	p.L123F		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	123					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGATAGGGAAGAAGAACCAGG	0.443000													28	125					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40395994	40395994	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:40395994C>T	ENST00000221347.6	-	15	7410	c.7403G>A	c.(7402-7404)cGc>cAc	p.R2468H		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2468	VWFD 6.					extracellular region	protein binding	p.R2468H(1)		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)			GAAGTCGAAGCGGCGGCCATC	0.672000													9	11					0	0	1	0	0
DHX36	170506	broad.mit.edu	37	3	154010428	154010428	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr3:154010428G>A	ENST00000496811.1	-	15	1806	c.1726C>T	c.(1726-1728)Cat>Tat	p.H576Y	DHX36_ENST00000329463.5_Missense_Mutation_p.H562Y|DHX36_ENST00000544526.1_Missense_Mutation_p.H562Y|DHX36_ENST00000308361.6_Missense_Mutation_p.H576Y	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	576	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GTATCAAAATGCGTCTCTTTT	0.373000													5	107					0	0	1	0	0
CDK5	1020	broad.mit.edu	37	7	150754191	150754191	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr7:150754191G>C	ENST00000485972.1	-	2	775	c.94C>G	c.(94-96)Ctg>Gtg	p.L32V	CDK5_ENST00000297518.4_Missense_Mutation_p.L32V	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	32	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		ACCCGTTTCAGAGCCACGATC	0.602000													9	113					0	0	1	0	0
LONP2	83752	broad.mit.edu	37	16	48381562	48381562	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr16:48381562G>C	ENST00000285737.4	+	13	2176	c.2083G>C	c.(2083-2085)Gag>Cag	p.E695Q	LONP2_ENST00000535754.1_Missense_Mutation_p.E651Q	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	695					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CGTGATGAAGGAGTCCGCCCA	0.607000													3	18					0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173883403	173883403	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:173883403C>A	ENST00000264111.6	+	22	2212	c.2025C>A	c.(2023-2025)tgC>tgA	p.C675*	RAPGEF4_ENST00000409036.1_Nonsense_Mutation_p.C676*|RAPGEF4_ENST00000535187.1_Nonsense_Mutation_p.C456*|RAPGEF4_ENST00000397081.3_Nonsense_Mutation_p.C676*|RAPGEF4_ENST00000539331.1_Nonsense_Mutation_p.C523*|RAPGEF4_ENST00000538974.1_Nonsense_Mutation_p.C505*|RAPGEF4_ENST00000397087.3_Nonsense_Mutation_p.C532*|RAPGEF4_ENST00000540783.1_Nonsense_Mutation_p.C523*			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	676					blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			AGGTCTATTGCATGGACCACA	0.453000													7	42					0.0381472	0.0391009	1	1	0
NANP	140838	broad.mit.edu	37	20	25596614	25596614	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr20:25596614C>G	ENST00000304788.3	-	2	920	c.694G>C	c.(694-696)Gag>Cag	p.E232Q		NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	232					N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity			endometrium(2)|lung(2)|prostate(1)	5						GCAGGTAACTCTAGCACAGAA	0.403000													4	74					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179392357	179392357	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:179392357G>A	ENST00000589042.1	-	362	107720	c.107496C>T	c.(107494-107496)ttC>ttT	p.F35832F	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.F33264F|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.F26959F|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.F34191F|TTN_ENST00000460472.2_Silent_p.F26767F|TTN_ENST00000359218.5_Silent_p.F26892F|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588804.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	34191							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)			TGAAACTGCTGAAGGAGGCCT	0.493000													5	21					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179428008	179428008	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:179428008C>G	ENST00000589042.1	-	326	83075	c.82851G>C	c.(82849-82851)tgG>tgC	p.W27617C	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W25049C|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W18744C|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W25976C|TTN_ENST00000460472.2_Missense_Mutation_p.W18552C|TTN_ENST00000359218.5_Missense_Mutation_p.W18677C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25976	Fibronectin type-III 101.						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)			TGCAGGTTGTCCATTCATCCG	0.443000													9	32					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123779049	123779049	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chrX:123779049C>A	ENST00000422452.2	-	10	1883	c.1820G>T	c.(1819-1821)tGc>tTc	p.C607F	TENM1_ENST00000371130.3_Missense_Mutation_p.C607F	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TCCCATGATGCAGGTGCCGTG	0.502000													37	70					5.43694e-19	6.47469e-19	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21745076	21745076	+	Splice_Site	SNP	A	A	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr7:21745076A>T	ENST00000328843.6	+	40	6520		c.e40-1		DNAH11_ENST00000409508.3_Splice_Site			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11						microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTGCTCTGCAGGTTGTCCAG	0.448000									Kartagener syndrome				3	44					0	0	1	0	0
DVL2	1856	broad.mit.edu	37	17	7137512	7137512	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:7137512C>G	ENST00000005340.5	-	1	352	c.70G>C	c.(70-72)Gag>Cag	p.E24Q	DVL2_ENST00000575458.1_Missense_Mutation_p.E24Q	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	24	DIX.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TAGGGAGTCTCTTCCTCATCC	0.657000													28	77					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126137056	126137056	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:126137056A>G	ENST00000299308.3	+	8	1977	c.1969A>G	c.(1969-1971)Atc>Gtc	p.I657V	TMEM132B_ENST00000535886.1_Missense_Mutation_p.I169V	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	657						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)		CCGAGTCACCATCGCGGAGCT	0.587000													6	23					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61513083	61513083	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr20:61513083C>T	ENST00000266070.4	-	16	4550	c.4225G>A	c.(4225-4227)Gag>Aag	p.E1409K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1409K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1409					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.E1409*(1)		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)					CTTTCCACCTCGTGGCGCCGC	0.602000													8	80					0	0	1	0	0
PUS7	54517	broad.mit.edu	37	7	105122848	105122848	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr7:105122848C>G	ENST00000356362.2	-	8	1174	c.960G>C	c.(958-960)ttG>ttC	p.L320F	PUS7_ENST00000469408.1_Missense_Mutation_p.L320F	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	320					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TAAAGTTCATCAAGCACTTAT	0.353000													6	84					0	0	1	0	0
PABPC4	8761	broad.mit.edu	37	1	40028021	40028021	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:40028021G>A	ENST00000372857.3	-	13	2480	c.1688C>T	c.(1687-1689)cCc>cTc	p.P563L	PABPC4_ENST00000372858.3_Missense_Mutation_p.P579L|PABPC4_ENST00000372862.3_Missense_Mutation_p.P534L|PABPC4_ENST00000372856.3_Missense_Mutation_p.P550L	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	563	PABC.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTCCTGGGGGGGTGCTGCAGC	0.612000													5	83					0	0	1	0	0
GSS	2937	broad.mit.edu	37	20	33519833	33519833	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr20:33519833C>T	ENST00000216951.2	-	10	1036	c.938G>A	c.(937-939)aGg>aAg	p.R313K	GSS_ENST00000541098.1_Missense_Mutation_p.R185K|GSS_ENST00000451957.2_Missense_Mutation_p.R202K	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	313					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	CATGCCCGGCCTGCTTAGCTC	0.627000													7	71					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7037684	7037684	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr18:7037684C>G	ENST00000389658.3	-	12	1723	c.1630G>C	c.(1630-1632)Gat>Cat	p.D544H		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	544	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTAGTGCATCTTGCTGAGAC	0.527000													5	43					0	0	1	0	0
MED17	9440	broad.mit.edu	37	11	93530718	93530718	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr11:93530718G>C	ENST00000251871.3	+	8	1448	c.1161G>C	c.(1159-1161)ttG>ttC	p.L387F	MED17_ENST00000533367.1_3'UTR	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	387					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AACAGACCTTGAGTTCCATCA	0.348000													7	106					0	0	1	0	0
TRAM1	23471	broad.mit.edu	37	8	71499408	71499408	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr8:71499408C>T	ENST00000521425.1	-	7	1352	c.316G>A	c.(316-318)Gat>Aat	p.D106N	TRAM1_ENST00000262213.2_Missense_Mutation_p.D192N|TRAM1_ENST00000536748.1_Missense_Mutation_p.D161N|TRAM1_ENST00000521049.1_5'UTR			Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	192					cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			CGAGGAATATCTTCCTGTAAA	0.383000													3	33					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74289367	74289367	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:74289367C>T	ENST00000262765.5	-	4	1122	c.943G>A	c.(943-945)Gac>Aac	p.D315N		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	315							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CTGCGTTGGTCTGTGCCAGGA	0.507000													4	84					0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16060049	16060049	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:16060049A>G	ENST00000322107.1	+	1	232	c.232A>G	c.(232-234)Atc>Gtc	p.I78V		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						CACTGTTGCCATCACCCCTCG	0.502000													37	217					0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76627261	76627261	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr5:76627261C>G	ENST00000264917.5	+	5	730	c.685C>G	c.(685-687)Ctt>Gtt	p.L229V	PDE8B_ENST00000342343.4_Missense_Mutation_p.L209V|PDE8B_ENST00000333194.4_Missense_Mutation_p.L229V|PDE8B_ENST00000340978.3_Missense_Mutation_p.L229V|PDE8B_ENST00000346042.3_Missense_Mutation_p.L229V	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	229					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		AGTCCTTCCTCTTCTCCACGC	0.493000													8	81					0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19506844	19506844	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:19506844C>T	ENST00000538714.1	+	22	2726	c.2722C>T	c.(2722-2724)Cct>Tct	p.P908S	PLEKHA5_ENST00000355397.3_Missense_Mutation_p.P908S|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.P850S|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.P1016S|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.P839S|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.P913S|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.P832S|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.P608S|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.P794S	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	850							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TGGAGTAGTCCCTCCAAGAGC	0.353000													7	37					0	0	1	0	0
SCNN1D	6339	broad.mit.edu	37	1	1222280	1222280	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:1222280C>T	ENST00000338555.2	+	5	1696	c.552C>T	c.(550-552)ccC>ccT	p.P184P	SCNN1D_ENST00000400928.3_Silent_p.P184P|SCNN1D_ENST00000379116.5_Silent_p.P348P|SCNN1D_ENST00000325425.8_Silent_p.P250P					sodium channel, non-voltage-gated 1, delta subunit											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		ACGAGCCCCCCTTCCACCTGG	0.652000													6	46					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73806368	73806368	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr11:73806368G>T	ENST00000334126.7	-	17	3291	c.3065C>A	c.(3064-3066)aCa>aAa	p.T1022K	C2CD3_ENST00000313663.7_Missense_Mutation_p.T1022K			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1022						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TCCCCAGACTGTTGCCTGAAG	0.458000													14	131					2.35188e-11	2.74945e-11	1	1	0
METTL3	56339	broad.mit.edu	37	14	21971844	21971844	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr14:21971844G>A	ENST00000298717.4	-	2	432	c.281C>T	c.(280-282)cCc>cTc	p.P94L	METTL3_ENST00000538267.1_Missense_Mutation_p.P94L	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	94					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		AGCATCAGTGGGCAATGTTAA	0.468000													6	58					0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31600612	31600612	+	Silent	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr20:31600612C>A	ENST00000170150.3	+	4	402	c.207C>A	c.(205-207)atC>atA	p.I69I		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	69						extracellular region	lipid binding										CCTGCAGGATCCGGATTCTGA	0.512000													13	142					1.5842e-08	1.81866e-08	1	1	0
AAR2	25980	broad.mit.edu	37	20	34832693	34832693	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr20:34832693C>T	ENST00000373932.3	+	3	1178	c.832C>T	c.(832-834)Ctg>Ttg	p.L278L	AAR2_ENST00000397286.3_Silent_p.L278L|AAR2_ENST00000320849.4_Silent_p.L278L	NM_015511.3	NP_056326.2			AAR2 splicing factor homolog (S. cerevisiae)																		GAAGCGGCTCCTGAACCTCCT	0.537000													18	28					0	0	1	0	0
RNF103	7844	broad.mit.edu	37	2	86832387	86832387	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:86832387G>A	ENST00000237455.4	-	4	1605	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000426549.1_RNA|RNF103_ENST00000477307.1_5'UTR|CHMP3_ENST00000439940.2_Intron|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000597638.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	213					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GTTTTGATCCGAGAAGCTGCA	0.353000													18	216					0	0	1	0	0
PGPEP1	54858	broad.mit.edu	37	19	18474235	18474235	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:18474235T>G	ENST00000269919.6	+	5	567	c.472T>G	c.(472-474)Tac>Gac	p.Y158D	PGPEP1_ENST00000604499.2_Intron|PGPEP1_ENST00000252813.5_Missense_Mutation_p.Y81D|PGPEP1_ENST00000597431.2_Missense_Mutation_p.V80G	NM_017712.2	NP_060182.1	Q9NXJ5	PGPI_HUMAN	pyroglutamyl-peptidase I								cysteine-type peptidase activity										CACCTCTTTGTACCAGAGTCA	0.587000													6	24					0	0	1	0	0
EIF1	10209	broad.mit.edu	37	17	39846124	39846124	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:39846124G>A	ENST00000469257.1	+	2	272	c.126G>A	c.(124-126)aaG>aaA	p.K42K	EIF1_ENST00000591776.1_Silent_p.K42K|JUP_ENST00000540235.1_Intron|EIF1_ENST00000310837.4_Intron			P41567	EIF1_HUMAN	eukaryotic translation initiation factor 1	42					regulation of translational initiation|response to stress	cytoplasm	translation initiation factor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1)	5		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ACGGCAGGAAGACCCTTACTA	0.428000											OREG0024409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	60					0	0	1	0	0
ADAM10	102	broad.mit.edu	37	15	58974428	58974428	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr15:58974428C>T	ENST00000260408.3	-	3	735	c.292G>A	c.(292-294)Gat>Aat	p.D98N	ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000402627.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	98					cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	p.D98H(1)		breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TGAGAGGTATCATAATCAAGT	0.323000													9	42					0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91352387	91352387	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr15:91352387G>A	ENST00000355112.3	+	20	3890	c.3772G>A	c.(3772-3774)Gag>Aag	p.E1258K	BLM_ENST00000560509.1_Missense_Mutation_p.E1127K|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1258	HRDC.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TTCTGATCCTGAGGTTTTGCT	0.373000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				13	138					0	0	1	0	0
AOC2	314	broad.mit.edu	37	17	40996746	40996746	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:40996746C>G	ENST00000253799.3	+	1	130	c.103C>G	c.(103-105)Ccc>Gcc	p.P35A	AOC2_ENST00000452774.2_Missense_Mutation_p.P35A	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	35					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CAGCCAGCCTCCCCACTGCCC	0.597000													26	220					0	0	1	0	0
TMC6	11322	broad.mit.edu	37	17	76116793	76116793	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:76116793G>T	ENST00000590602.1	-	13	1815	c.1656C>A	c.(1654-1656)ttC>ttA	p.F552L	TMC6_ENST00000322914.3_Missense_Mutation_p.F552L|TMC6_ENST00000392467.3_Missense_Mutation_p.F552L|TMC6_ENST00000322933.4_Intron|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000589553.1_3'UTR|TMC6_ENST00000591436.1_Intron			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	552						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CCATCACCAGGAACCGGTACA	0.632000													12	101					4.36969e-10	5.08763e-10	1	1	0
SETX	23064	broad.mit.edu	37	9	135205790	135205790	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr9:135205790G>C	ENST00000372169.2	-	10	1377	c.1195C>G	c.(1195-1197)Caa>Gaa	p.Q399E	SETX_ENST00000224140.5_Missense_Mutation_p.Q399E|SETX_ENST00000393220.1_Missense_Mutation_p.Q399E			Q7Z333	SETX_HUMAN	senataxin	399					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CGCATGTCTTGACCAATATCT	0.418000													5	22					0	0	1	0	0
CLSPN	63967	broad.mit.edu	37	1	36209127	36209127	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:36209127C>T	ENST00000251195.5	-	17	3067	c.2971G>A	c.(2971-2973)Gag>Aag	p.E991K	CLSPN_ENST00000520551.1_Missense_Mutation_p.E938K|CLSPN_ENST00000373220.3_Missense_Mutation_p.E927K|RP11-435D7.3_ENST00000373226.2_RNA|CLSPN_ENST00000318121.3_Missense_Mutation_p.E991K			Q9HAW4	CLSPN_HUMAN	claspin	991					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCGTCTTCCTCTTCCCTAAAA	0.328000													13	62					0	0	1	0	0
OR6C74	254783	broad.mit.edu	37	12	55641164	55641164	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:55641164C>A	ENST00000343870.4	+	1	183	c.93C>A	c.(91-93)ttC>ttA	p.F31L		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TCCTTTTTTTCACCTACATGT	0.378000													11	101					0.0931896	0.0950103	1	1	0
STAG1	10274	broad.mit.edu	37	3	136323193	136323193	+	Silent	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr3:136323193G>C	ENST00000383202.2	-	4	511	c.255C>G	c.(253-255)gtC>gtG	p.V85V	STAG1_ENST00000236698.5_Silent_p.V85V|STAG1_ENST00000480733.1_Silent_p.V85V|STAG1_ENST00000434713.2_5'UTR	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	85					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						CAAATAATGTGACAGGCTCCC	0.428000													13	174					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57588213	57588213	+	Silent	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:57588213C>G	ENST00000243077.3	+	49	8461	c.7995C>G	c.(7993-7995)ctC>ctG	p.L2665L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2665	LDL-receptor class A 14.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGACCTCACTCTGCTACGCAC	0.672000													10	81					0	0	1	0	0
INPP5F	22876	broad.mit.edu	37	10	121586873	121586873	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr10:121586873C>T	ENST00000361976.2	+	20	3146	c.2980C>T	c.(2980-2982)Caa>Taa	p.Q994*	INPP5F_ENST00000369080.3_Nonsense_Mutation_p.Q384*	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	994							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AATGACCAATCAAGTTTCAAA	0.443000													11	62					0	0	1	0	0
HNRNPL	3191	broad.mit.edu	37	19	39334702	39334702	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:39334702G>A	ENST00000221419.5	-	5	1119	c.753C>T	c.(751-753)ctC>ctT	p.L251L	HNRNPL_ENST00000600873.1_Silent_p.L118L	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	251	RRM 2.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CAGCCCCATTGAGAGAGGCCT	0.493000													5	162					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9449296	9449296	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr20:9449296C>G	ENST00000378501.2	+	32	3306	c.3291C>G	c.(3289-3291)atC>atG	p.I1097M	PLCB4_ENST00000378473.3_Missense_Mutation_p.I1109M|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.I1097M|PLCB4_ENST00000278655.4_Missense_Mutation_p.I1097M|PLCB4_ENST00000334005.3_Missense_Mutation_p.I1097M|PLCB4_ENST00000414679.2_Missense_Mutation_p.I1109M	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1097					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATAAATCTATCAAGAATAAAG	0.388000													3	64					0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123311015	123311015	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:123311015G>A	ENST00000392441.4	+	12	2193	c.2048G>A	c.(2047-2049)tGa>tAa	p.*683*	CCDC62_ENST00000392440.2_3'UTR|CCDC62_ENST00000253079.6_3'UTR|CCDC62_ENST00000537566.1_3'UTR			Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	0						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AATACTGAATGAATACTTAAC	0.328000													7	51					0	0	1	0	0
MS4A10	341116	broad.mit.edu	37	11	60565890	60565890	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr11:60565890C>T	ENST00000308287.1	+	7	721	c.625C>T	c.(625-627)Ccg>Tcg	p.P209S		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	209						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						ATGCCTTGTTCCGAATACACC	0.547000													9	31					0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53170485	53170485	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:53170485G>A	ENST00000332411.2	-	1	644	c.591C>T	c.(589-591)ttC>ttT	p.F197F		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	197	Coil 1A.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTTGTCGATGAAGGAGGCAA	0.577000													5	63					0	0	1	0	0
RAB5C	5878	broad.mit.edu	37	17	40278828	40278828	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:40278828G>A	ENST00000393860.3	-	6	796	c.480C>T	c.(478-480)ttC>ttT	p.F160F	CTD-2132N18.3_ENST00000592574.1_Intron|RAB5C_ENST00000547517.1_Silent_p.F193F|RAB5C_ENST00000346213.4_Silent_p.F160F	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	160					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		ATGTCTCCATGAACAGCAAAC	0.537000													6	68					0	0	1	0	0
GABARAPL2	11345	broad.mit.edu	37	16	75601962	75601962	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr16:75601962C>T	ENST00000037243.2	+	3	254	c.118C>T	c.(118-120)Cag>Tag	p.Q40*	GABARAPL2_ENST00000563744.1_Intron|RP11-77K12.8_ENST00000564489.1_RNA|GABARAPL2_ENST00000568455.1_5'UTR|GABARAPL2_ENST00000565057.1_Nonsense_Mutation_p.Q40*	NM_007285.6	NP_009216.1	P60520	GBRL2_HUMAN	GABA(A) receptor-associated protein-like 2	40	Interaction with GABRG2 (Potential).				autophagy|intra-Golgi vesicle-mediated transport|positive regulation of ATPase activity|protein transport	autophagic vacuole membrane|cytosol|Golgi membrane|membrane fraction	ATPase binding|beta-tubulin binding|GABA receptor binding|microtubule binding|SNARE binding			lung(1)|ovary(1)	2						CTCAGGCTCTCAGATTGTTGA	0.478000													4	90					0	0	1	0	0
HHIPL1	84439	broad.mit.edu	37	14	100123451	100123451	+	Silent	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr14:100123451C>G	ENST00000330710.5	+	3	1115	c.1017C>G	c.(1015-1017)ccC>ccG	p.P339P	HHIPL1_ENST00000357223.2_Silent_p.P339P	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	339					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CCGGAGACCCCTTTGGGACAT	0.527000													25	196					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51780153	51780153	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr15:51780153C>G	ENST00000251076.5	-	22	5502	c.5215G>C	c.(5215-5217)Gag>Cag	p.E1739Q	DMXL2_ENST00000449909.3_Missense_Mutation_p.E1103Q|DMXL2_ENST00000543779.2_Missense_Mutation_p.E1739Q|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1739						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATTTATACCTCTATGGCATCT	0.333000													29	55					0	0	1	0	0
MDM1	56890	broad.mit.edu	37	12	68715396	68715396	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:68715396C>G	ENST00000303145.7	-	6	900	c.814G>C	c.(814-816)Gac>Cac	p.D272H	MDM1_ENST00000411698.2_Missense_Mutation_p.D227H|MDM1_ENST00000540418.1_5'UTR	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	272						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		AAACGATCGTCTATTTTATTA	0.313000													4	60					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516513	140516513	+	Silent	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr5:140516513C>A	ENST00000231134.5	+	1	1714	c.1497C>A	c.(1495-1497)ctC>ctA	p.L499L		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		499	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCTGCGCCTCGCCTCCCTGG	0.662000													10	71					4.68919e-08	5.35108e-08	1	1	0
UGT2A3	79799	broad.mit.edu	37	4	69817286	69817286	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr4:69817286C>A	ENST00000251566.4	-	1	223	c.193G>T	c.(193-195)Gac>Tac	p.D65Y		NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	65						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTCCTGTAGTCAATTAACGAA	0.413000													18	28					8.00594e-06	8.82036e-06	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77768131	77768131	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr8:77768131G>T	ENST00000521891.2	+	10	9422	c.8974G>T	c.(8974-8976)Ggg>Tgg	p.G2992W	ZFHX4_ENST00000455469.2_Missense_Mutation_p.G2947W|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G2966W|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G2947W	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2947						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AATTAACATAGGGAAGCCTTT	0.468000										HNSCC(33;0.089)			3	20					0.004672	0.00487587	1	1	0
EIF4G1	1981	broad.mit.edu	37	3	184040478	184040478	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr3:184040478G>C	ENST00000342981.4	+	11	2169	c.1755G>C	c.(1753-1755)gaG>gaC	p.E585D	EIF4G1_ENST00000392537.2_Missense_Mutation_p.E498D|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E585D|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E421D|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E592D|EIF4G1_ENST00000346169.2_Missense_Mutation_p.E585D|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E389D|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E498D|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E421D|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E545D|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E592D|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E592D|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E389D|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E545D|EIF2B5_ENST00000444495.1_Intron	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	585	MIF4G.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACAATGCTGAGAACATCCAGC	0.507000													24	26					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26812790	26812790	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr15:26812790G>T	ENST00000541819.2	-	8	1043	c.941C>A	c.(940-942)aCg>aAg	p.T314K	GABRB3_ENST00000311550.5_Missense_Mutation_p.T258K|GABRB3_ENST00000299267.4_Missense_Mutation_p.T258K|GABRB3_ENST00000400188.3_Missense_Mutation_p.T187K|GABRB3_ENST00000545868.1_Missense_Mutation_p.T173K			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	258					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.T258M(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CGACAGAATCGTTATCAGTAT	0.408000													9	46					0.0477658	0.0487857	1	1	0
MST1L	11223	broad.mit.edu	37	1	17085034	17085034	+	RNA	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:17085034G>A	ENST00000455405.2	-	0	154																											GAACGACGCTGATCCAGCCGA	0.607000													6	61					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184035179	184035179	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr3:184035179G>A	ENST00000342981.4	+	4	632	c.218G>A	c.(217-219)cGc>cAc	p.R73H	EIF4G1_ENST00000392537.2_5'UTR|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R73H|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R80H|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R73H|EIF4G1_ENST00000427845.1_5'UTR|EIF4G1_ENST00000350481.5_Intron|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R33H|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R80H|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R80H|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R33H|EIF2B5_ENST00000444495.1_Intron	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	73					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCCCTGCCCGCCCTGGCCCA	0.632000													41	114					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66849204	66849204	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:66849204C>T	ENST00000359742.4	-	11	1579	c.1339G>A	c.(1339-1341)Gac>Aac	p.D447N	GRIP1_ENST00000286445.7_Missense_Mutation_p.D447N|GRIP1_ENST00000398016.3_Missense_Mutation_p.D395N			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	447					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CTTTTGAAGTCTTTCTTTTTC	0.478000													22	528					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	990891	990891	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:990891G>C	ENST00000537687.1	+	13	4568	c.3925G>C	c.(3925-3927)Gag>Cag	p.E1309Q	WNK1_ENST00000340908.4_Missense_Mutation_p.E642Q|WNK1_ENST00000530271.2_Missense_Mutation_p.E1547Q|WNK1_ENST00000315939.6_Missense_Mutation_p.E1049Q|WNK1_ENST00000535572.1_Missense_Mutation_p.E802Q	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1049					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TGCTCCTGCAGAGCCAGTTGC	0.453000													5	41					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411777	105411777	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr14:105411777C>G	ENST00000333244.5	-	7	10130	c.10011G>C	c.(10009-10011)aaG>aaC	p.K3337N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3337						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGGCCTCCGCCTTCGGCGCAG	0.612000													20	141					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78685105	78685105	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr3:78685105A>C	ENST00000436010.2	-	21	4071	c.3074T>G	c.(3073-3075)gTc>gGc	p.V1025G	ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000464233.1_Missense_Mutation_p.V1064G|ROBO1_ENST00000495273.1_Missense_Mutation_p.V1019G			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1064					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGATGGATTGACAAAACGCCC	0.478000													5	88					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67799854	67799854	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr13:67799854G>C	ENST00000544246.1	-	2	3410	c.2719C>G	c.(2719-2721)Ccg>Gcg	p.P907A	PCDH9_ENST00000456367.1_Missense_Mutation_p.P907A|PCDH9_ENST00000377865.2_Missense_Mutation_p.P907A|PCDH9_ENST00000377861.3_Missense_Mutation_p.P907A|PCDH9_ENST00000328454.5_Missense_Mutation_p.P907A	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	907				P -> A (in Ref. 2; CAD97664).	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AGTTCAGCCGGCAGGCTTATT	0.478000													25	98					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54925978	54925978	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:54925978C>G	ENST00000293373.6	+	26	2885	c.2806C>G	c.(2806-2808)Ctt>Gtt	p.L936V	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.L886V	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	936					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CTGCCCATTTCTTATGGGTCC	0.403000													6	37					0	0	1	0	0
BPIFA3	128861	broad.mit.edu	37	20	31811719	31811719	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr20:31811719T>C	ENST00000375454.3	+	2	440	c.230T>C	c.(229-231)gTg>gCg	p.V77A	BPIFA3_ENST00000375452.3_Missense_Mutation_p.V77A|BPIFA3_ENST00000490499.1_3'UTR	NM_178466.3	NP_848561.2	Q9BQP9	SPLC3_HUMAN	BPI fold containing family A, member 3	77						extracellular region	lipid binding										CCAGGGCTGGTGGGCTGGCTA	0.542000													5	59					0	0	1	0	0
MRP63	78988	broad.mit.edu	37	13	21751154	21751154	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr13:21751154G>A	ENST00000309594.4	+	2	177	c.99G>A	c.(97-99)caG>caA	p.Q33Q		NM_024026.4	NP_076931.1	Q9BQC6	RT63_HUMAN	mitochondrial ribosomal protein 63	33								p.Q33H(1)		kidney(1)|lung(2)|skin(1)|urinary_tract(1)	5		all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932)		GCGCCAAGCAGAACATGATCC	0.682000													3	29					0	0	1	0	0
OR10H1	26539	broad.mit.edu	37	19	15918827	15918827	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:15918827G>A	ENST00000334920.2	-	1	109	c.21C>T	c.(19-21)tcC>tcT	p.S7S		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						GGGTCACTGTGGAGTGATTGG	0.542000													6	70					0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59760937	59760937	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:59760937C>G	ENST00000259008.2	-	20	3737	c.3470G>C	c.(3469-3471)aGa>aCa	p.R1157T		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1157					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GTTAGCCAATCTATTTCCTCT	0.338000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					12	57					0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76376580	76376580	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr6:76376580C>G	ENST00000370014.3	+	10	1766	c.1147C>G	c.(1147-1149)Cgt>Ggt	p.R383G	SENP6_ENST00000447266.2_Missense_Mutation_p.R383G|SENP6_ENST00000327284.8_Missense_Mutation_p.R376G|SENP6_ENST00000370010.2_Missense_Mutation_p.R376G	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	383					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				CAGAGCAGAGCGTGAACTACG	0.423000													4	60					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84694841	84694841	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr7:84694841G>A	ENST00000284136.6	-	6	660	c.617C>T	c.(616-618)tCt>tTt	p.S206F	SEMA3D_ENST00000444867.1_Missense_Mutation_p.S206F	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	206	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AAGGAAATCAGAAGCTGTTCC	0.418000													7	35					0	0	1	0	0
MPG	4350	broad.mit.edu	37	16	133069	133069	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr16:133069C>T	ENST00000219431.4	+	4	565	c.334C>T	c.(334-336)Cct>Tct	p.P112S	MPG_ENST00000397817.1_Missense_Mutation_p.P95S	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	112					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CCGGCGACTTCCTAATGGCAC	0.647000								Base excision repair (BER), DNA glycosylases					12	118					0	0	1	0	0
STK4	6789	broad.mit.edu	37	20	43615817	43615817	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr20:43615817G>T	ENST00000372806.3	+	5	500	c.405G>T	c.(403-405)aaG>aaT	p.K135N	STK4_ENST00000372801.1_Missense_Mutation_p.K135N|STK4_ENST00000499879.2_Intron|STK4_ENST00000396731.4_Missense_Mutation_p.K135N	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	135	Protein kinase.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				CAACTCTTAAGGGACTTGAAT	0.308000													4	7					0.00909568	0.00939014	1	1	0
PDCD7	10081	broad.mit.edu	37	15	65412264	65412264	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr15:65412264C>G	ENST00000204549.4	-	3	1092	c.1038G>C	c.(1036-1038)gaG>gaC	p.E346D		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	346					apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						GCGTAAAAGTCTCATCTGCTG	0.453000													11	123					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6181234	6181234	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:6181234C>T	ENST00000262450.3	-	33	4942	c.4843G>A	c.(4843-4845)Gag>Aag	p.E1615K	CHD5_ENST00000378021.1_Missense_Mutation_p.E472K	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1615					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)		CGGGCTCTCTCCTTGCTGGCT	0.657000													9	21					0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74920261	74920261	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr16:74920261C>T	ENST00000262144.6	-	24	2583	c.2453G>A	c.(2452-2454)tGg>tAg	p.W818*		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	818										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GGATTCTCCCCAAGGGGAGGA	0.493000													10	60					0	0	1	0	0
SMC2	10592	broad.mit.edu	37	9	106875681	106875681	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr9:106875681G>C	ENST00000286398.7	+	11	1627	c.1339G>C	c.(1339-1341)Gat>Cat	p.D447H	SMC2_ENST00000374793.3_Missense_Mutation_p.D447H|SMC2_ENST00000374787.3_Missense_Mutation_p.D447H|SMC2_ENST00000303219.8_Missense_Mutation_p.D447H	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	447					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						CTACAGGAAGGATCAAGAAGC	0.348000													5	31					0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106461351	106461351	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:106461351G>C	ENST00000261402.2	-	7	2594	c.1215C>G	c.(1213-1215)agC>agG	p.S405R		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	405							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GCTCGCTGTTGCTTCGCTTCT	0.512000													7	43					0	0	1	0	0
CDC25B	994	broad.mit.edu	37	20	3785542	3785542	+	Silent	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr20:3785542C>G	ENST00000245960.5	+	16	2374	c.1677C>G	c.(1675-1677)ctC>ctG	p.L559L	CDC25B_ENST00000379598.5_Silent_p.L468L|CDC25B_ENST00000344256.6_Silent_p.L495L|CDC25B_ENST00000439880.2_Silent_p.L545L|CDC25B_ENST00000340833.4_Silent_p.L518L|CDC25B_ENST00000467519.1_3'UTR	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	559					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						CCTTCCGCCTCAAGACTCGCA	0.637000													14	49					0	0	1	0	0
NFIA	4774	broad.mit.edu	37	1	61848909	61848909	+	Splice_Site	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:61848909G>T	ENST00000403491.3	+	7	1431	c.947G>T	c.(946-948)gGa>gTa	p.G316V	NFIA_ENST00000371189.4_Splice_Site_p.G361V|NFIA_ENST00000371185.2_Splice_Site_p.G294V|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000485903.2_Intron|NFIA_ENST00000371184.2_Splice_Site_p.G187V|NFIA_ENST00000371187.3_Splice_Site_p.G316V|NFIA_ENST00000407417.3_Splice_Site_p.G308V|NFIA_ENST00000371191.1_Splice_Site_p.G339V	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	316					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						TTCTTGCCAGGAATGCCATCT	0.433000													15	69					0.000566183	0.000604069	1	1	0
ACTR1A	10121	broad.mit.edu	37	10	104242807	104242807	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr10:104242807C>T	ENST00000369905.4	-	7	774	c.711G>A	c.(709-711)gaG>gaA	p.E237E	ACTR1A_ENST00000487599.1_Silent_p.E237E|RP11-18I14.11_ENST00000608017.1_RNA|ACTR1A_ENST00000545684.1_Silent_p.E163E|ACTR1A_ENST00000470322.1_5'UTR|ACTR1A_ENST00000446605.2_Silent_p.E190E	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	237					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		ACTGAGCTTTCTCTGTCTCTA	0.532000													12	104					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255517	140255517	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr5:140255517C>G	ENST00000398631.2	+	1	460	c.460C>G	c.(460-462)Cta>Gta	p.L154V	PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATTTTCCTCTAGAGGGCGC	0.433000													5	35					0	0	1	0	0
VPS72	6944	broad.mit.edu	37	1	151156814	151156814	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:151156814C>G	ENST00000354473.4	-	4	577	c.541G>C	c.(541-543)Gag>Cag	p.E181Q	VPS72_ENST00000496809.1_5'UTR			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	181					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AAATTAAGCTCTTCTGTGATC	0.552000													20	190					0	0	1	0	0
MLYCD	23417	broad.mit.edu	37	16	83941793	83941793	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr16:83941793G>A	ENST00000262430.4	+	3	723	c.704G>A	c.(703-705)aGa>aAa	p.R235K	RP11-505K9.4_ENST00000561562.1_3'UTR|RP11-505K9.4_ENST00000566309.1_Missense_Mutation_p.R5K	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	235					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						GGGCCCTACAGAAGGTGTTAC	0.522000													8	36					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125397108	125397108	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:125397108C>T	ENST00000536769.1	-	1	2786	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	UBC_ENST00000339647.5_Missense_Mutation_p.E404K|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Missense_Mutation_p.E328K			P0CG48	UBC_HUMAN	ubiquitin C	404	Ubiquitin-like 6.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TTGACATTCTCAATGGTGTCA	0.542000													17	148					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129914153	129914153	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr10:129914153G>C	ENST00000368654.3	-	7	894	c.519C>G	c.(517-519)gaC>gaG	p.D173E	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	173					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GAGCAACACTGTCTTTTGAGT	0.403000													13	100					0	0	1	0	0
CNBD2	140894	broad.mit.edu	37	20	34575345	34575345	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr20:34575345G>A	ENST00000373973.3	+	7	918	c.745G>A	c.(745-747)Gat>Aat	p.D249N	CNBD2_ENST00000538900.1_Missense_Mutation_p.D249N|CNBD2_ENST00000349339.1_Missense_Mutation_p.D249N					cyclic nucleotide binding domain containing 2																		ATCATGGTCTGATGAGAAGCT	0.488000													5	30					0	0	1	0	0
SLC45A2	51151	broad.mit.edu	37	5	33963850	33963850	+	Silent	SNP	G	G	A	rs116887602	by1000genomes	TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr5:33963850G>A	ENST00000382102.3	-	3	891	c.834C>T	c.(832-834)taC>taT	p.Y278Y	SLC45A2_ENST00000296589.4_Silent_p.Y278Y|SLC45A2_ENST00000345083.5_Intron|SLC45A2_ENST00000509381.1_Intron|SLC45A2_ENST00000342059.3_Silent_p.Y219Y	NM_001012509.2	NP_001012527	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	278					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		p.Y278Y(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CTGGATTTACGTAACCATTTT	0.413000													7	159					0	0	1	0	0
OR52I1	390037	broad.mit.edu	37	11	4615934	4615934	+	Silent	SNP	T	T	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr11:4615934T>C	ENST00000450052.2	+	2	738	c.738T>C	c.(736-738)taT>taC	p.Y246Y	OR52I1_ENST00000530443.2_Silent_p.Y222Y			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGCCTCCTATATCTTAATTC	0.493000													23	86					0	0	1	0	0
PHKA2	5256	broad.mit.edu	37	X	18919674	18919674	+	Nonsense_Mutation	SNP	C	C	A	rs144570979	byFrequency	TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chrX:18919674C>A	ENST00000379942.4	-	27	3621	c.2956G>T	c.(2956-2958)Gag>Tag	p.E986*		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	986					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TGGCCCACCTCGTGGATGGAG	0.542000													4	28					2.56e-06	2.84775e-06	1	1	0
POLR2A	5430	broad.mit.edu	37	17	7412382	7412382	+	Silent	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:7412382C>G	ENST00000322644.6	+	21	3984	c.3585C>G	c.(3583-3585)gtC>gtG	p.V1195V		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1195					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GGGTGAATGTCTACTATGAAA	0.552000													5	38					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12884911	12884911	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:12884911C>G	ENST00000535591.1	-	4	1395	c.1200G>C	c.(1198-1200)aaG>aaC	p.K400N		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	400										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GCCTCACTTTCTTCATCAGCT	0.498000													22	196					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23909599	23909599	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr13:23909599T>C	ENST00000382298.3	-	10	9004	c.8416A>G	c.(8416-8418)Atg>Gtg	p.M2806V	SACS_ENST00000402364.1_Missense_Mutation_p.M2056V|SACS_ENST00000382292.3_Missense_Mutation_p.M2806V	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2806					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCAGTATCCATAGTATAGGTT	0.348000													8	49					0	0	1	0	0
ZNF625	90589	broad.mit.edu	37	19	12256290	12256290	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:12256290G>A	ENST00000355738.1	-	4	1092	c.743C>T	c.(742-744)tCt>tTt	p.S248F	ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000542938.1_Missense_Mutation_p.S248F|ZNF625_ENST00000439556.2_Missense_Mutation_p.S314F			Q96I27	ZN625_HUMAN	zinc finger protein 625	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						GTGCGAGGCAGATCTGAAGGC	0.448000													8	133					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27094470	27094470	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:27094470G>T	ENST00000324856.7	+	11	3549	c.3178G>T	c.(3178-3180)Gag>Tag	p.E1060*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.E1060*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.E677*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1060	ARID.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTCTGTGAAGGAGATTGGTGG	0.527000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								8	59					5.18039e-06	5.71836e-06	1	1	0
ABCC12	94160	broad.mit.edu	37	16	48134843	48134843	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr16:48134843G>T	ENST00000311303.3	-	21	3323	c.2978C>A	c.(2977-2979)tCc>tAc	p.S993Y	ABCC12_ENST00000448542.1_Silent_p.L914L|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	993	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CTGCATGGAGGAGGTGATGTG	0.577000													3	20					0.004672	0.00487587	1	1	0
CALD1	800	broad.mit.edu	37	7	134618740	134618740	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr7:134618740A>G	ENST00000361675.2	+	5	1449	c.1220A>G	c.(1219-1221)gAa>gGa	p.E407G	CALD1_ENST00000361901.2_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000424922.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	407					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						ATAAAAGGGGAAAAGGTAGAA	0.398000													8	50					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53668712	53668712	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:53668712G>T	ENST00000257934.4	+	7	1709	c.1618G>T	c.(1618-1620)Gaa>Taa	p.E540*	ESPL1_ENST00000550026.1_3'UTR|ESPL1_ENST00000552462.1_Nonsense_Mutation_p.E540*	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	540					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CTGTAGCCCTGAACACATGGC	0.552000													4	22					0.150653	0.151445	1	1	0
MYH7	4625	broad.mit.edu	37	14	23884655	23884655	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr14:23884655C>T	ENST00000355349.3	-	36	5380	c.5218G>A	c.(5218-5220)Gaa>Aaa	p.E1740K	CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1740					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCTCCACTTCAGTCTGGAGC	0.572000													8	45					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56478854	56478854	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:56478854G>T	ENST00000267101.3	+	3	750	c.310G>T	c.(310-312)Gtg>Ttg	p.V104L	ERBB3_ENST00000415288.2_Missense_Mutation_p.V45L|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000411731.2_Missense_Mutation_p.V104L	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	104			V -> M (in an ovarian mucinous carcinoma sample; somatic mutation).		cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.V104M(7)|p.V104L(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517000													10	90					7.48243e-07	8.3885e-07	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168115729	168115729	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:168115729C>T	ENST00000409728.1	+	11	2861	c.2772C>T	c.(2770-2772)gcC>gcT	p.A924A	XIRP2_ENST00000409756.2_Silent_p.A891A|XIRP2_ENST00000420519.1_Silent_p.A924A|XIRP2_ENST00000409605.1_Silent_p.A669A|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409043.1_Silent_p.A891A|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409273.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGAAGCTGCCCGCAATAATG	0.408000													7	53					0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158300624	158300624	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:158300624C>T	ENST00000368168.3	-	2	397	c.290G>A	c.(289-291)cGa>cAa	p.R97Q		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	97					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	p.R97L(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TTGTACTTCTCGAGCGAATCC	0.433000													23	218					0	0	1	0	0
TNKS2	80351	broad.mit.edu	37	10	93593634	93593634	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr10:93593634C>G	ENST00000371627.4	+	12	1679	c.1300C>G	c.(1300-1302)Cag>Gag	p.Q434E		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	434					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TAATCTTGGTCAGACTTCTCT	0.388000													10	48					0	0	1	0	0
LAT2	7462	broad.mit.edu	37	7	73636008	73636008	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr7:73636008C>T	ENST00000460943.1	+	10	1263	c.374C>T	c.(373-375)tCg>tTg	p.S125L	LAT2_ENST00000275635.7_Missense_Mutation_p.S125L|LAT2_ENST00000398475.1_Missense_Mutation_p.S125L|LAT2_ENST00000344995.5_Missense_Mutation_p.S125L	NM_032464.2	NP_115853.2	Q9GZY6	NTAL_HUMAN	linker for activation of T cells family, member 2	125					B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						GGGCGGTTCTCGAAGCCCCCA	0.587000													12	112					0	0	1	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768432	140768432	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr5:140768432G>A	ENST00000519479.1	+	1	981	c.981G>A	c.(979-981)gcG>gcA	p.A327A	PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATGATTGCGCAATGCACAG	0.428000													4	22					0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27284365	27284365	+	Splice_Site	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:27284365C>T	ENST00000317338.12	-	12	2923		c.e12+1		SEZ6_ENST00000442608.3_Splice_Site|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000360295.9_Splice_Site|SEZ6_ENST00000335960.6_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)							integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			TTGACACTTACGGAGACATTT	0.562000													46	143					0	0	1	0	0
DUSP22	56940	broad.mit.edu	37	6	348123	348123	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr6:348123G>A	ENST00000419235.2	+	6	362	c.284G>A	c.(283-285)aGc>aAc	p.S95N	DUSP22_ENST00000344450.5_Missense_Mutation_p.S95N|DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	95	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GTCTCCAGGAGCGTGACACTG	0.612000													7	172					0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55815193	55815193	+	Splice_Site	SNP	A	A	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:55815193A>G	ENST00000309383.1	+	12	1562	c.1285A>G	c.(1285-1287)Aga>Gga	p.R429G	BRSK1_ENST00000326848.7_Splice_Site_p.R124G|BRSK1_ENST00000590333.1_Splice_Site_p.R445G	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	429					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCACAGCCAGAGGTGGGAGCC	0.607000													4	33					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141232779	141232779	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:141232779T>A	ENST00000389484.3	-	60	10524	c.9553A>T	c.(9553-9555)Aat>Tat	p.N3185Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3185					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTCTACGATTAACATAATCT	0.383000										TSP Lung(27;0.18)			5	25					0	0	1	0	0
HEXA	3073	broad.mit.edu	37	15	72645447	72645447	+	Missense_Mutation	SNP	G	G	A	rs121907953		TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr15:72645447G>A	ENST00000268097.5	-	5	1035	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C	HEXA_ENST00000457859.2_5'UTR|HEXA_ENST00000566304.1_Missense_Mutation_p.R189C|HEXA_ENST00000429918.2_Intron|HEXA_ENST00000567159.1_Missense_Mutation_p.R178C|RP11-106M3.2_ENST00000379915.4_RNA	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	178			R -> C (in GM2G1; infantile; inactive protein).|R -> H (in GM2G1; infantile; inactive protein).|R -> L (in GM2G1; infantile; dbSNP:rs28941770).		cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						AGGTAATGGCGAGATGTATCC	0.488000													5	14					0	0	1	0	0
GNL3L	54552	broad.mit.edu	37	X	54566599	54566599	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chrX:54566599C>T	ENST00000336470.4	+	4	252	c.113C>T	c.(112-114)tCc>tTc	p.S38F	GNL3L_ENST00000489691.1_3'UTR|GNL3L_ENST00000360845.2_Missense_Mutation_p.S38F	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	38					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						AAAGCAACCTCCAAAGTGCCC	0.453000													4	12					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16256117	16256117	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:16256117G>A	ENST00000375759.3	+	11	3586	c.3382G>A	c.(3382-3384)Gac>Aac	p.D1128N		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1128					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGAGAGAGAAGACGTTAGGAA	0.393000													3	23					0	0	1	0	0
NUMB	8650	broad.mit.edu	37	14	73763990	73763990	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr14:73763990C>T	ENST00000554546.1	-	6	561	c.205G>A	c.(205-207)Gga>Aga	p.G69R	NUMB_ENST00000544991.3_Missense_Mutation_p.G80R|NUMB_ENST00000559312.1_Missense_Mutation_p.G80R|NUMB_ENST00000454166.4_Missense_Mutation_p.G80R|NUMB_ENST00000560335.1_Missense_Mutation_p.G80R|NUMB_ENST00000555238.1_Missense_Mutation_p.G80R|NUMB_ENST00000556772.1_5'UTR|NUMB_ENST00000356296.4_Missense_Mutation_p.G80R|NUMB_ENST00000554521.2_Missense_Mutation_p.G69R|NUMB_ENST00000359560.3_Missense_Mutation_p.G69R|NUMB_ENST00000535282.1_Missense_Mutation_p.G69R|NUMB_ENST00000355058.3_Missense_Mutation_p.G80R|NUMB_ENST00000557597.1_Missense_Mutation_p.G69R|NUMB_ENST00000555738.2_Missense_Mutation_p.G69R|NUMB_ENST00000555394.1_Missense_Mutation_p.G80R	NM_001005745.1	NP_001005745.1	P49757	NUMB_HUMAN	numb homolog (Drosophila)	80	PID.				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		GCTTTCTTTCCAGTCTTTTAA	0.348000													29	168					0	0	1	0	0
MAPK3	5595	broad.mit.edu	37	16	30133296	30133296	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr16:30133296C>A	ENST00000403394.1	-	2	301	c.202G>T	c.(202-204)Gtg>Ttg	p.V68L	MAPK3_ENST00000395202.1_Missense_Mutation_p.V68L|MAPK3_ENST00000395200.1_Missense_Mutation_p.V39L|MAPK3_ENST00000395199.3_Missense_Mutation_p.V68L|MAPK3_ENST00000484663.1_5'UTR|MAPK3_ENST00000263025.4_Missense_Mutation_p.V68L|MAPK3_ENST00000322266.5_Missense_Mutation_p.V68L	NM_001040056.1	NP_001035145.1	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	68	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated 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|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|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|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	TTGATGGCCACGCGAGTCTTG	0.627000													3	22					0.004672	0.00487587	1	1	0
METTL2A	339175	broad.mit.edu	37	17	60525064	60525064	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:60525064C>T	ENST00000311506.5	+	8	955	c.919C>T	c.(919-921)Cag>Tag	p.Q307*		NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	307							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			CTCTGCAGGTCAGTGTCTATC	0.413000													311	441					0	0	1	0	0
ADAP1	11033	broad.mit.edu	37	7	938872	938872	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr7:938872G>T	ENST00000265846.5	-	10	1113	c.894C>A	c.(892-894)ttC>ttA	p.F298L	ADAP1_ENST00000539900.1_Missense_Mutation_p.F309L|ADAP1_ENST00000449296.2_Missense_Mutation_p.F226L	NM_001284308.1|NM_001284309.1|NM_001284311.1|NM_006869.2	NP_001271237.1|NP_001271238.1|NP_001271240.1|NP_006860	O75689	ADAP1_HUMAN	ArfGAP with dual PH domains 1	298	PH 2.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						TGCTGCCAATGAAGACTTCCC	0.672000													10	39					1.5842e-08	1.81866e-08	1	1	0
NEUROD1	4760	broad.mit.edu	37	2	182543011	182543011	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:182543011G>A	ENST00000295108.3	-	2	1034	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	193					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			AGAAAAGTCCGAGGATTGAGT	0.607000													5	40					0	0	1	0	0
ALAS1	211	broad.mit.edu	37	3	52245498	52245498	+	Silent	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr3:52245498C>A	ENST00000394965.2	+	10	1890	c.1530C>A	c.(1528-1530)ctC>ctA	p.L510L	ALAS1_ENST00000310271.2_Silent_p.L510L|ALAS1_ENST00000484952.1_Silent_p.L510L|ALAS1_ENST00000469224.1_Silent_p.L510L	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	510					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	ACGTCAAACTCATGAGACAGA	0.612000													4	35					8.12818e-05	8.81962e-05	1	1	0
ZNF613	79898	broad.mit.edu	37	19	52448027	52448027	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:52448027C>T	ENST00000293471.6	+	6	1570	c.891C>T	c.(889-891)ttC>ttT	p.F297F	ZNF613_ENST00000391794.4_Silent_p.F261F	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GAAAAGGCTTCATCAAGAAGT	0.448000													5	56					0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56388525	56388525	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr15:56388525C>T	ENST00000423270.1	-	9	1400	c.1401G>A	c.(1399-1401)atG>atA	p.M467I	RFX7_ENST00000559447.2_Missense_Mutation_p.M370I|RFX7_ENST00000317318.6_Missense_Mutation_p.M467I|RFX7_ENST00000422057.1_Missense_Mutation_p.M370I	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	370					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TTAGAGAACTCATGTGTGAAG	0.468000													5	39					0	0	1	0	0
KIAA1033	23325	broad.mit.edu	37	12	105527675	105527675	+	Splice_Site	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:105527675G>T	ENST00000332180.5	+	14	1413		c.e14+1			NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033						endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TTTTATACAGGTAGTTGCATC	0.313000													15	61					7.93312e-07	8.87644e-07	1	1	0
ATP6V0A1	535	broad.mit.edu	37	17	40673049	40673049	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:40673049G>C	ENST00000343619.4	+	22	2548	c.2425G>C	c.(2425-2427)Gag>Cag	p.E809Q	ATP6V0A1_ENST00000587797.1_3'UTR|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.E803Q|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.E455Q|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.E810Q|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.E766Q|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.E760Q|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.E809Q	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	809					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)		CTCCAGGGTTGAGTTCCAGAA	0.468000													23	203					0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69090606	69090606	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:69090606G>A	ENST00000229179.4	+	6	788	c.456G>A	c.(454-456)atG>atA	p.M152I	NUP107_ENST00000539906.1_Missense_Mutation_p.M123I|NUP107_ENST00000378905.2_Start_Codon_SNP_p.M1I	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	152					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TAGCATCCATGAGTATGTTTT	0.328000													44	40					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89348908	89348908	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr16:89348908C>A	ENST00000301030.4	-	9	4502	c.4042G>T	c.(4042-4044)Gag>Tag	p.E1348*	ANKRD11_ENST00000378330.2_Nonsense_Mutation_p.E1348*	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1348	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTGTGCCTCTCCTTCTCTTTC	0.572000													8	64					0.000157383	0.000169172	1	1	0
ALAS1	211	broad.mit.edu	37	3	52245381	52245381	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr3:52245381C>T	ENST00000394965.2	+	10	1773	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	ALAS1_ENST00000310271.2_Silent_p.F471F|ALAS1_ENST00000484952.1_Silent_p.F471F|ALAS1_ENST00000469224.1_Silent_p.F471F	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	471					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CTGCTGGCTTCATCTTCACCA	0.597000													5	18					0	0	1	0	0
OR6M1	390261	broad.mit.edu	37	11	123676458	123676458	+	Silent	SNP	A	A	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr11:123676458A>T	ENST00000309154.2	-	1	637	c.600T>A	c.(598-600)tcT>tcA	p.S200S		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TGACAAGGGCAGAGAGGAGAA	0.468000													12	24					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34092973	34092973	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr15:34092973C>G	ENST00000389232.4	+	68	9903	c.9833C>G	c.(9832-9834)tCt>tGt	p.S3278C	RYR3_ENST00000415757.3_Missense_Mutation_p.S3278C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3278					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)		GGACCCAGATCTAACTGGCTG	0.378000													5	38					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248570164	248570164	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:248570164C>T	ENST00000366474.1	+	1	869	c.869C>T	c.(868-870)aCt>aTt	p.T290I		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			GCATTTGCCACTTGCTCATCC	0.522000													5	59					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125396470	125396470	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:125396470C>T	ENST00000536769.1	-	1	3424	c.1848G>A	c.(1846-1848)ctG>ctA	p.L616L	UBC_ENST00000339647.5_Silent_p.L616L|UBC_ENST00000538617.1_Silent_p.L236L|UBC_ENST00000546120.1_Silent_p.L540L			P0CG48	UBC_HUMAN	ubiquitin C	616	Ubiquitin-like 9.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCTTACCAGTCAGGGTCTTCA	0.532000													9	92					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128696	83128696	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chrX:83128696A>G	ENST00000329312.4	+	4	1017	c.980A>G	c.(979-981)aAg>aGg	p.K327R		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	327					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			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						AAGGATGTAAAGAAGGACACA	0.333000													12	11					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112179676	112179676	+	Silent	SNP	A	A	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr5:112179676A>G	ENST00000457016.1	+	16	8765	c.8385A>G	c.(8383-8385)gcA>gcG	p.A2795A	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Silent_p.A2795A|APC_ENST00000257430.4_Silent_p.A2795A			P25054	APC_HUMAN	adenomatous polyposis coli	2795	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAAGCAGCGCAGATAGCACTT	0.483000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			10	32					0	0	1	0	0
RAB21	23011	broad.mit.edu	37	12	72176412	72176412	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:72176412A>G	ENST00000261263.3	+	6	765	c.509A>G	c.(508-510)gAg>gGg	p.E170G		NM_014999.2	NP_055814.1	Q9UL25	RAB21_HUMAN	RAB21, member RAS oncogene family	170					protein transport|small GTPase mediated signal transduction	cleavage furrow|cytoplasmic vesicle membrane|early endosome membrane|endoplasmic reticulum membrane|Golgi membrane	GDP binding|GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)	6						AAAGGAATTGAGGAACTCTTT	0.279000													4	123					0	0	1	0	0
OSTM1	28962	broad.mit.edu	37	6	108372381	108372381	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr6:108372381G>C	ENST00000193322.3	-	4	722	c.637C>G	c.(637-639)Cag>Gag	p.Q213E		NM_014028.3	NP_054747.2	Q86WC4	OSTM1_HUMAN	osteopetrosis associated transmembrane protein 1	213						integral to membrane				central_nervous_system(2)|endometrium(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)		TTTTTTGTCTGTAAAAGACTA	0.308000													6	28					0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938775	2938775	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:2938775G>A	ENST00000378404.2	+	1	730	c.525G>A	c.(523-525)ctG>ctA	p.L175L		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	175						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GTTACTCCCTGCCCCACGCAG	0.667000													15	28					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43236985	43236985	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:43236985C>T	ENST00000327495.5	-	3	844	c.660G>A	c.(658-660)cgG>cgA	p.R220R	PSG3_ENST00000595140.1_Silent_p.R220R	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	220	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TCACTGGGTTCCGTATTTCAC	0.498000													25	281					0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96702001	96702001	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr10:96702001C>T	ENST00000260682.6	+	3	396	c.384C>T	c.(382-384)ctC>ctT	p.L128L	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	128					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GTTTCTCCCTCATGACGCTGC	0.502000													6	94					0	0	1	0	0
FBXL14	144699	broad.mit.edu	37	12	1702297	1702297	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:1702297G>A	ENST00000339235.3	-	1	1034	c.936C>T	c.(934-936)ctC>ctT	p.L312L	WNT5B_ENST00000537031.1_Intron	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	312						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			GGCAGGAGCAGAGGGAGAGAG	0.592000													8	16					0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40427941	40427941	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr4:40427941C>T	ENST00000319592.4	-	6	2264	c.1555G>A	c.(1555-1557)Gac>Aac	p.D519N	RBM47_ENST00000381793.2_Missense_Mutation_p.D588N|RBM47_ENST00000295971.7_Missense_Mutation_p.D588N|RBM47_ENST00000514014.1_Missense_Mutation_p.D550N|RBM47_ENST00000381795.6_Missense_Mutation_p.D519N			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	588	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TGGTAGACGTCGGGGATGGGG	0.547000													14	32					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56570243	56570243	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:56570243G>T	ENST00000323456.5	-	17	3405	c.3281C>A	c.(3280-3282)tCa>tAa	p.S1094*	MTMR4_ENST00000579925.1_Nonsense_Mutation_p.S1037*	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1094						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTTGCTTCTGAAAGGCAGTC	0.428000													8	90					0.0477658	0.0487857	1	1	0
TMEM150C	441027	broad.mit.edu	37	4	83411350	83411350	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr4:83411350C>T	ENST00000515780.2	-	7	609	c.405G>A	c.(403-405)ttG>ttA	p.L135L	TMEM150C_ENST00000449862.2_Silent_p.L135L|TMEM150C_ENST00000508701.1_3'UTR			B9EJG8	T150C_HUMAN	transmembrane protein 150C							integral to membrane				ovary(1)	1						ATCCAAAGGTCAAGGAAGTTC	0.463000													6	75					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247599342	247599342	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:247599342C>T	ENST00000336119.3	+	6	3315	c.2569C>T	c.(2569-2571)Ctg>Ttg	p.L857L	NLRP3_ENST00000391827.2_Silent_p.L800L|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000391828.3_Silent_p.L857L|NLRP3_ENST00000366497.2_Intron|NLRP3_ENST00000366496.2_Intron	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	857					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAGCCATTCCCTGACCAGACT	0.488000													4	51					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237919635	237919635	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:237919635C>T	ENST00000366574.2	+	81	11510	c.11193C>T	c.(11191-11193)ctC>ctT	p.L3731L	RYR2_ENST00000542537.1_Silent_p.L3715L|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.L3737L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3731					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGCCCGACTCCACGATCGTG	0.468000													5	28					0	0	1	0	0
COX7A2	1347	broad.mit.edu	37	6	75953496	75953496	+	Silent	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr6:75953496C>A	ENST00000370081.2	-	2	361	c.51G>T	c.(49-51)tcG>tcT	p.S17S	COX7A2_ENST00000230459.4_5'UTR|COX7A2_ENST00000460985.1_5'UTR|COX7A2_ENST00000370089.2_Silent_p.S17S|COX7A2_ENST00000472311.2_5'UTR|COX7A2_ENST00000509698.1_5'UTR			P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)	0						mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			kidney(2)|lung(1)	3						ACACCACCAACGAAAATGGCC	0.542000													7	54					1.12685e-05	1.23673e-05	1	1	0
PTPRC	5788	broad.mit.edu	37	1	198678879	198678879	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:198678879A>T	ENST00000367376.2	+	11	1262	c.1091A>T	c.(1090-1092)aAg>aTg	p.K364M	PTPRC_ENST00000594404.1_Missense_Mutation_p.K203M|PTPRC_ENST00000352140.3_Missense_Mutation_p.K316M|PTPRC_ENST00000348564.6_Missense_Mutation_p.K205M|PTPRC_ENST00000442510.2_Missense_Mutation_p.K366M	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	364					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CATGAGTATAAGTGTGACTCA	0.269000													5	42					0	0	1	0	0
DUOXA1	90527	broad.mit.edu	37	15	45415146	45415146	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr15:45415146T>C	ENST00000558996.1	-	2	121	c.67A>G	c.(67-69)Act>Gct	p.T23A	DUOXA1_ENST00000560572.1_Missense_Mutation_p.T23A|DUOXA1_ENST00000430224.2_Missense_Mutation_p.T23A|DUOXA1_ENST00000558422.1_Missense_Mutation_p.T23A|DUOXA1_ENST00000559014.1_Missense_Mutation_p.T23A|DUOXA1_ENST00000267803.4_Missense_Mutation_p.T23A	NM_001276267.1|NM_001276268.1	NP_001263196.1|NP_001263197.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	23					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)		CTGGCCAAAGTGGTGTCCATC	0.557000													14	41					0	0	1	0	0
FAM73A	374986	broad.mit.edu	37	1	78340674	78340674	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:78340674G>A	ENST00000370791.3	+	16	1856	c.1824G>A	c.(1822-1824)ctG>ctA	p.L608L	FAM73A_ENST00000443751.2_Silent_p.L571L	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	608						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		CAGATGCCCTGAGGCATACAA	0.433000													3	28					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150946377	150946377	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr5:150946377G>C	ENST00000261800.5	-	1	2128	c.2116C>G	c.(2116-2118)Cag>Gag	p.Q706E		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	706					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)			TGATTAATCTGATATGTGCTT	0.468000													6	51					0	0	1	0	0
TEAD4	7004	broad.mit.edu	37	12	3104055	3104055	+	Silent	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:3104055C>A	ENST00000359864.2	+	3	313	c.123C>A	c.(121-123)ggC>ggA	p.G41G	TEAD4_ENST00000397122.2_Intron|TEAD4_ENST00000358409.2_Silent_p.G41G	NM_003213.3	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4	41					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)			ACGCAGAGGGCGTGTGGAGCC	0.622000													18	99					1.56452e-12	1.83648e-12	1	1	0
TEX2	55852	broad.mit.edu	37	17	62254744	62254744	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:62254744C>G	ENST00000258991.3	-	6	2617	c.2533G>C	c.(2533-2535)Gag>Cag	p.E845Q	TEX2_ENST00000583097.1_Missense_Mutation_p.E838Q|TEX2_ENST00000584379.1_Missense_Mutation_p.E838Q			Q8IWB9	TEX2_HUMAN	testis expressed 2	838					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CAGTATTTCTCTCCTAAGAAG	0.428000													13	335					0	0	1	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14976735	14976735	+	Missense_Mutation	SNP	G	G	C	rs61749165		TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr10:14976735G>C	ENST00000453695.2	-	7	588	c.144C>G	c.(142-144)ttC>ttG	p.F48L	DCLRE1C_ENST00000378255.1_Missense_Mutation_p.F48L|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.F53L|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.F48L|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.F168L|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.F53L|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.F168L|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.F53L|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.F48L|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.F48L	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	168					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity	p.F53F(1)|p.F168F(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TTGGATCACAGAACGTAGTAT	0.368000								Non-homologous end-joining					5	99					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50780079	50780079	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:50780079C>A	ENST00000404971.1	-	10	2864	c.1525G>T	c.(1525-1527)Gtg>Ttg	p.V509L	NRXN1_ENST00000401669.2_Missense_Mutation_p.V469L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.V461L|NRXN1_ENST00000406316.2_Missense_Mutation_p.V469L|NRXN1_ENST00000405472.3_Missense_Mutation_p.V461L|NRXN1_ENST00000406859.3_Missense_Mutation_p.V469L	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	469	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTAAATGCCACCACTCCATGG	0.408000													21	85					5.26018e-13	6.21264e-13	1	1	0
PLEC	5339	broad.mit.edu	37	8	144994931	144994931	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr8:144994931G>A	ENST00000322810.4	-	32	9638	c.9469C>T	c.(9469-9471)Ctc>Ttc	p.L3157F	PLEC_ENST00000357649.2_Missense_Mutation_p.L3024F|PLEC_ENST00000527096.1_Missense_Mutation_p.L3043F|PLEC_ENST00000345136.3_Missense_Mutation_p.L3020F|PLEC_ENST00000356346.3_Missense_Mutation_p.L3006F|PLEC_ENST00000354958.2_Missense_Mutation_p.L2998F|PLEC_ENST00000354589.3_Missense_Mutation_p.L3020F|PLEC_ENST00000398774.2_Missense_Mutation_p.L2988F|PLEC_ENST00000436759.2_Missense_Mutation_p.L3047F	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3157	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCACCCCGGAGAGCCCGCCGC	0.632000													8	28					0	0	1	0	0
CHRNA2	1135	broad.mit.edu	37	8	27320929	27320929	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr8:27320929A>G	ENST00000407991.1	-	6	1639	c.1031T>C	c.(1030-1032)gTc>gCc	p.V344A	CHRNA2_ENST00000520933.2_Missense_Mutation_p.V344A|CHRNA2_ENST00000240132.2_Missense_Mutation_p.V329A	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	344						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	GACGGTGATGACGATGGACAG	0.632000													5	32					0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120021873	120021873	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr5:120021873G>T	ENST00000379551.2	+	3	672	c.315G>T	c.(313-315)agG>agT	p.R105S	PRR16_ENST00000505123.1_Missense_Mutation_p.R58S|PRR16_ENST00000407149.2_Missense_Mutation_p.R128S|PRR16_ENST00000446965.1_Missense_Mutation_p.R58S	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	128	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CTCCTCCAAGGTTGACACCTG	0.522000													7	49					0.000157383	0.000169172	1	1	0
PCDHA2	56146	broad.mit.edu	37	5	140176615	140176615	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr5:140176615C>G	ENST00000526136.1	+	1	2066	c.2066C>G	c.(2065-2067)tCa>tGa	p.S689*	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Nonsense_Mutation_p.S689*|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Nonsense_Mutation_p.S689*	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)			GCCGCGGGCTCAGAGGCTACG	0.647000													18	76					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21628979	21628979	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr7:21628979C>T	ENST00000328843.6	+	12	2158	c.2127C>T	c.(2125-2127)ttC>ttT	p.F709F	DNAH11_ENST00000409508.3_Silent_p.F709F			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	709	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGGTTAAATTCAGTGCCATAA	0.318000									Kartagener syndrome				8	130					0	0	1	0	0
AP001347.6	0	broad.mit.edu	37	21	15399892	15399892	+	RNA	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr21:15399892C>G	ENST00000428809.1	+	0	151				AP001347.6_ENST00000448463.1_RNA|AP001347.6_ENST00000432621.1_RNA																							AGCTAAGACTCCAGGACACCC	0.597000													7	73					0	0	1	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654596	31654596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr21:31654596G>A	ENST00000340345.4	-	1	680	c.655C>T	c.(655-657)Cga>Tga	p.R219*		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	219	6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK].					keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						CTCAGTGGTCGGCAGCTCGTA	0.443000													21	52					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43786959	43786959	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:43786959C>A	ENST00000372476.3	+	20	3206	c.3127C>A	c.(3127-3129)Ctt>Att	p.L1043I	TIE1_ENST00000433781.2_Missense_Mutation_p.L688I	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	1043	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGAGTCCTTCTTTGGGAGAT	0.552000													19	119					3.62473e-10	4.22885e-10	1	1	0
SPIRE2	84501	broad.mit.edu	37	16	89924852	89924852	+	Silent	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr16:89924852G>T	ENST00000378247.3	+	8	1252	c.1209G>T	c.(1207-1209)ccG>ccT	p.P403P	SPIRE2_ENST00000393062.2_Silent_p.P403P	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	403					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CCCAGCGCCCGCGGCCCCGCG	0.602000													26	63					7.92952e-12	9.28887e-12	1	1	0
LSS	4047	broad.mit.edu	37	21	47639462	47639462	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr21:47639462C>T	ENST00000397728.3	-	6	653	c.575G>A	c.(574-576)tGg>tAg	p.W192*	LSS_ENST00000356396.4_Nonsense_Mutation_p.W192*|LSS_ENST00000522411.1_Nonsense_Mutation_p.W181*|LSS_ENST00000464357.1_5'UTR|LSS_ENST00000457828.2_Nonsense_Mutation_p.W112*	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	192					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GAACTTCCCCCAGGAGGGGAT	0.557000													5	29					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21232767	21232767	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:21232767T>A	ENST00000233242.1	-	26	7100	c.6973A>T	c.(6973-6975)Att>Ttt	p.I2325F		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2325				LIG -> PYW (in Ref. 16; AAA51741).	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAATCCCCAATAAGATTTATA	0.333000													17	83					0	0	1	0	0
MAP6	4135	broad.mit.edu	37	11	75298211	75298211	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr11:75298211G>C	ENST00000304771.3	-	4	3085	c.2335C>G	c.(2335-2337)Ctg>Gtg	p.L779V	MAP6_ENST00000526740.1_Missense_Mutation_p.L450V|CTD-2530H12.4_ENST00000527803.1_RNA	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	779	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	p.L779V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TGAGTCTTCAGAGGTTCAGGG	0.532000													6	66					0	0	1	0	0
C9	735	broad.mit.edu	37	5	39308335	39308335	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr5:39308335C>A	ENST00000263408.4	-	8	1332	c.1237G>T	c.(1237-1239)Gct>Tct	p.A413S		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	413	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CACTTACCAGCTCTACCCTCT	0.438000													6	49					0.000157383	0.000169172	1	1	0
EXT2	2132	broad.mit.edu	37	11	44228470	44228470	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr11:44228470C>T	ENST00000395673.3	+	10	1778	c.1722C>T	c.(1720-1722)atC>atT	p.I574I	EXT2_ENST00000358681.4_Silent_p.I551I|EXT2_ENST00000343631.3_Silent_p.I541I|EXT2_ENST00000533608.1_Silent_p.I541I	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	541					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						ATGATGATATCATTATGCTGA	0.378000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				11	79					0	0	1	0	0
KCNJ14	3770	broad.mit.edu	37	19	48967859	48967859	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:48967859C>A	ENST00000391884.1	+	2	1612	c.1136C>A	c.(1135-1137)tCt>tAt	p.S379Y	KCNJ14_ENST00000342291.2_Missense_Mutation_p.S379Y			Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	379						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		AGCCTCAAGTCTAGTTTCCCC	0.537000													10	45					2.27111e-07	2.57124e-07	1	1	0
ODC1	4953	broad.mit.edu	37	2	10582143	10582143	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:10582143G>C	ENST00000234111.4	-	9	1418	c.908C>G	c.(907-909)tCt>tGt	p.S303C	ODC1_ENST00000405333.1_Missense_Mutation_p.S303C	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	303					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	CATACCATCAGAGCCCGTCTG	0.393000													8	95					0	0	1	0	0
DAGLB	221955	broad.mit.edu	37	7	6449925	6449925	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr7:6449925C>A	ENST00000297056.6	-	14	1825	c.1656G>T	c.(1654-1656)caG>caT	p.Q552H	DAGLB_ENST00000428902.2_3'UTR|DAGLB_ENST00000436575.1_Missense_Mutation_p.Q511H|DAGLB_ENST00000425398.2_Missense_Mutation_p.Q423H	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	552					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TCAGGACTTCCTGGTCGCCCC	0.607000													9	13					3.09899e-07	3.49473e-07	1	1	0
PCDHGA1	56114	broad.mit.edu	37	5	140712348	140712348	+	Silent	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr5:140712348G>T	ENST00000517417.1	+	1	2097	c.2097G>T	c.(2095-2097)gcG>gcT	p.A699A	PCDHGA1_ENST00000378105.3_Silent_p.A699A	NM_018912.2	NP_061735.1												p.A699A(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCGGCCGCGGTCTCCTGCG	0.662000													7	67					0.000157383	0.000169172	1	1	0
MLEC	9761	broad.mit.edu	37	12	121134181	121134181	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:121134181G>A	ENST00000228506.3	+	5	1140	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	MLEC_ENST00000412616.2_Silent_p.K159K	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	238	Poly-Glu.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						agaagaagaagaaTATGATGA	0.478000													21	120					0	0	1	0	0
LRPPRC	10128	broad.mit.edu	37	2	44139644	44139644	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:44139644C>T	ENST00000260665.7	-	30	3259	c.3202G>A	c.(3202-3204)Gaa>Aaa	p.E1068K		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1068					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTGTAGGTTTCAGCATTAAAC	0.313000													8	55					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160035546	160035546	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:160035546G>T	ENST00000263635.6	+	14	2619	c.2382G>T	c.(2380-2382)agG>agT	p.R794S	TANC1_ENST00000454300.1_Missense_Mutation_p.R688S	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	794						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TTCAGCAGAGGATGGACGCCC	0.577000													26	89					4.59853e-10	5.34323e-10	1	1	0
TGFBRAP1	9392	broad.mit.edu	37	2	105924200	105924200	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:105924200G>C	ENST00000393359.2	-	2	985	c.559C>G	c.(559-561)Cag>Gag	p.Q187E	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.Q187E			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	187	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						ATGATGTACTGAGTGGTCAGA	0.597000													11	70					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777079	18777079	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr9:18777079C>T	ENST00000380548.4	+	19	3191	c.2852C>T	c.(2851-2853)cCg>cTg	p.P951L		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	951	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCAGCGGGCCCGGCCCGGGAG	0.647000													6	29					0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36137545	36137545	+	Splice_Site	SNP	T	T	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr5:36137545T>C	ENST00000296603.4	-	5	831		c.e5-2			NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2							integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGAGAATCCTAGATGGATAG	0.318000													10	26					0	0	1	0	0
NDST2	8509	broad.mit.edu	37	10	75562954	75562954	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr10:75562954G>C	ENST00000603027.1	-	12	2929	c.2306C>G	c.(2305-2307)tCt>tGt	p.S769C	NDST2_ENST00000309979.6_Missense_Mutation_p.S769C|NDST2_ENST00000299641.4_Missense_Mutation_p.S646C						769																	TACCTGTCCAGAGGGGTAGTA	0.552000													6	62					0	0	1	0	0
TMEM150B	284417	broad.mit.edu	37	19	55831793	55831793	+	Silent	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:55831793G>T	ENST00000326652.4	-	5	344	c.162C>A	c.(160-162)atC>atA	p.I54I	TMEM150B_ENST00000438693.1_Silent_p.I54I	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	54						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						CCTGGCTGAAGATGCAGCTCT	0.582000													3	16					0.115264	0.116893	1	1	0
CERKL	375298	broad.mit.edu	37	2	182403901	182403901	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:182403901C>T	ENST00000410087.3	-	12	1556	c.1456G>A	c.(1456-1458)Gag>Aag	p.E486K	CERKL_ENST00000409440.3_Missense_Mutation_p.E468K|CERKL_ENST00000374970.2_Missense_Mutation_p.E417K|CERKL_ENST00000374969.2_Missense_Mutation_p.E373K|CERKL_ENST00000339098.5_Missense_Mutation_p.E512K	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	512					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GTTTCATCCTCCTCCTCCTCT	0.353000													9	56					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36487329	36487329	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:36487329C>T	ENST00000342292.4	-	11	2143	c.2123G>A	c.(2122-2124)cGa>cAa	p.R708Q		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	708						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGAGCTGCCTCGCTTCTTGGG	0.627000													4	30					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179598167	179598167	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:179598167C>T	ENST00000589042.1	-	54	16077	c.15853G>A	c.(15853-15855)Gca>Aca	p.A5285T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A4041T|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.A4968T|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4968	Ig-like 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCGTGCCTGCCACTGTGTAC	0.468000													23	70					0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200822476	200822476	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:200822476A>G	ENST00000358823.2	+	13	3946	c.3676A>G	c.(3676-3678)Atg>Gtg	p.M1226V	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.M1210V|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.M1237V	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1237						cytoplasm|microtubule	protein binding										GCAAGAATATATGAGGCGGAA	0.363000													6	55					0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35476394	35476394	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:35476394G>C	ENST00000357182.4	-	9	1533	c.1306C>G	c.(1306-1308)Cta>Gta	p.L436V	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.L436V|ZMYM6_ENST00000487874.1_Missense_Mutation_p.L436V	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	436					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GTGGCAAATAGATGGTTACAG	0.403000													13	100					0	0	1	0	0
ZNF287	57336	broad.mit.edu	37	17	16455227	16455227	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:16455227C>G	ENST00000395824.1	-	6	2846	c.2229G>C	c.(2227-2229)caG>caC	p.Q743H	ZNF287_ENST00000395825.3_Missense_Mutation_p.Q743H			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	736					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		GGTTTGTACTCTGGGTGAAGG	0.383000													24	76					0	0	1	0	0
TTC12	54970	broad.mit.edu	37	11	113215139	113215139	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr11:113215139C>T	ENST00000393020.1	+	13	1536	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	TTC12_ENST00000529221.1_Silent_p.I377I|TTC12_ENST00000483239.2_Silent_p.I383I|TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000314756.3_Silent_p.I377I			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	377							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GGAGCCTGATCATCAACCACC	0.587000													41	52					0	0	1	0	0
PAGE3	139793	broad.mit.edu	37	X	55286994	55286994	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chrX:55286994G>A	ENST00000374951.1	-	4	600	c.292C>T	c.(292-294)Ctg>Ttg	p.L98L	PAGE3_ENST00000519203.1_Silent_p.L98L					P antigen family, member 3 (prostate associated)											endometrium(1)|kidney(1)|lung(1)	3						ACAGGCTCCAGATTTGGCAGA	0.398000													7	15					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50054340	50054340	+	Silent	SNP	A	A	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chrX:50054340A>T	ENST00000376042.1	+	6	3469	c.3171A>T	c.(3169-3171)ccA>ccT	p.P1057P	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.P1057P			Q8WWL7	CCNB3_HUMAN	cyclin B3	1057					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GAACCAGCCCATATGTGTTTA	0.512000													16	28					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184039489	184039489	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr3:184039489G>C	ENST00000342981.4	+	9	1531	c.1117G>C	c.(1117-1119)Gag>Cag	p.E373Q	EIF4G1_ENST00000392537.2_Missense_Mutation_p.E286Q|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E373Q|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E209Q|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E380Q|EIF4G1_ENST00000346169.2_Missense_Mutation_p.E373Q|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E177Q|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E286Q|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E209Q|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E333Q|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E380Q|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E380Q|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E177Q|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E333Q|EIF2B5_ENST00000444495.1_Intron	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	373					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTGGAACCAGAGGTGGAGTC	0.567000													69	116					0	0	1	0	0
APMAP	57136	broad.mit.edu	37	20	24944532	24944532	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr20:24944532C>T	ENST00000217456.2	-	9	1458	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	APMAP_ENST00000447138.1_3'UTR	NM_020531.2	NP_065392.1			adipocyte plasma membrane associated protein																		TCGTGCACCTCGCTGATGTAG	0.612000													6	62					0	0	1	0	0
SLC29A4	222962	broad.mit.edu	37	7	5340173	5340173	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr7:5340173C>T	ENST00000396872.3	+	10	1491	c.1330C>T	c.(1330-1332)Cgt>Tgt	p.R444C	SLC29A4_ENST00000297195.4_Missense_Mutation_p.R444C|SLC29A4_ENST00000406453.3_Missense_Mutation_p.R430C|SLC29A4_ENST00000439491.2_3'UTR			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4						nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GCCCGCCCTCCGTCACCCCGC	0.667000													11	193					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901541	51901541	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:51901541C>T	ENST00000268919.4	+	1	1303	c.1147C>T	c.(1147-1149)Caa>Taa	p.Q383*		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	383	Kinesin-motor.				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						TGGCAATCAGCAAATCCAAGT	0.478000													9	37					0	0	1	0	0
DPEP3	64180	broad.mit.edu	37	16	68010124	68010124	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr16:68010124G>A	ENST00000268793.4	-	9	1550	c.1177C>T	c.(1177-1179)Cag>Tag	p.Q393*		NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	368					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		TCCAGCCCCTGAGGGAACCTG	0.602000													4	34					0	0	1	0	0
APOBEC4	403314	broad.mit.edu	37	1	183617142	183617142	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:183617142C>G	ENST00000308641.4	-	2	1046	c.775G>C	c.(775-777)Gag>Cag	p.E259Q	RGL1_ENST00000536277.1_Intron|APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000304685.4_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	259					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						GGGTAGCTCTCTAAAGCCTCC	0.453000													11	87					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50055509	50055509	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr5:50055509G>A	ENST00000281631.5	+	4	375	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	PARP8_ENST00000511363.2_Intron|PARP8_ENST00000505554.1_Missense_Mutation_p.E52K|PARP8_ENST00000503750.2_Missense_Mutation_p.E73K|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000505697.2_Missense_Mutation_p.E73K|PARP8_ENST00000514067.2_Missense_Mutation_p.E73K	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	73						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AGAGAATGATGAAGATGTGCT	0.244000													3	23					0	0	1	0	0
ELANE	1991	broad.mit.edu	37	19	856140	856140	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:856140G>A	ENST00000590230.1	+	6	921	c.780G>A	c.(778-780)ccG>ccA	p.P260P	ELANE_ENST00000263621.1_Silent_p.P260P			P08246	ELNE_HUMAN	elastase, neutrophil expressed	260					cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CCCGGGACCCGGACCCGGCCA	0.602000													8	140					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19338481	19338481	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:19338481G>C	ENST00000252575.6	+	8	2151	c.2052G>C	c.(2050-2052)ttG>ttC	p.L684F	NCAN_ENST00000538881.1_Missense_Mutation_p.L135F	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan						axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CTCTCTCTTTGACCCCAACAG	0.612000													9	66					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75887496	75887496	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr6:75887496G>A	ENST00000322507.8	-	12	2629	c.2320C>T	c.(2320-2322)Cag>Tag	p.Q774*	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Nonsense_Mutation_p.Q774*|COL12A1_ENST00000483888.2_Nonsense_Mutation_p.Q774*	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	774	Fibronectin type-III 4.				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						CTCCTCCTCTGATTGGGTGGG	0.418000													29	171					0	0	1	0	0
CUL1	8454	broad.mit.edu	37	7	148481098	148481098	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr7:148481098C>T	ENST00000325222.4	+	11	1506	c.1227C>T	c.(1225-1227)acC>acT	p.T409T	CUL1_ENST00000409469.1_Silent_p.T409T|CUL1_ENST00000602748.1_Silent_p.T409T	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	409					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			ACGCGGTTACCAAGATGGCCC	0.438000													3	25					0	0	1	0	0
EXOC8	149371	broad.mit.edu	37	1	231472831	231472831	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:231472831G>A	ENST00000366645.1	-	1	767	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W	EXOC8_ENST00000360394.2_Missense_Mutation_p.R221W			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	221	PH.				exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				ATCCCACGCCGCTGAGGCAGC	0.552000													3	39					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583361	7583361	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr6:7583361G>C	ENST00000379802.3	+	24	6207	c.5866G>C	c.(5866-5868)Gag>Cag	p.E1956Q	DSP_ENST00000418664.2_Missense_Mutation_p.E1357Q	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1956	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GACCCAGACTGAGTGTGAGTG	0.512000													6	47					0	0	1	0	0
ZNF92	168374	broad.mit.edu	37	7	64852854	64852854	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr7:64852854C>G	ENST00000328747.7	+	2	242	c.43C>G	c.(43-45)Cta>Gta	p.L15V	ZNF92_ENST00000357512.2_Missense_Mutation_p.L15V|ZNF92_ENST00000450302.2_Intron|ZNF92_ENST00000431504.1_Intron	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	15	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				AGAATTCTCTCTAGAGGAATG	0.423000													8	84					0	0	1	0	0
EED	8726	broad.mit.edu	37	11	85956304	85956304	+	Silent	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr11:85956304G>C	ENST00000263360.6	+	1	719	c.33G>C	c.(31-33)gcG>gcC	p.A11A	EED_ENST00000327320.4_Silent_p.A11A|EED_ENST00000528180.1_Silent_p.A11A|EED_ENST00000351625.6_Silent_p.A11A	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	11					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	p.A11A(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				CTGCGCCGGCGGGAACAGACA	0.622000													12	11					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516511	140516511	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr5:140516511C>T	ENST00000231134.5	+	1	1712	c.1495C>T	c.(1495-1497)Ctc>Ttc	p.L499F		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		499	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCTGCGCCTCGCCTCCCT	0.667000													10	71					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149226733	149226733	+	Silent	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:149226733C>G	ENST00000407073.1	+	9	2218	c.1221C>G	c.(1219-1221)ctC>ctG	p.L407L	MBD5_ENST00000404807.1_Silent_p.L407L	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	407	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAAGTAATCTCCCATTGCCAA	0.438000													28	101					0	0	1	0	0
RNF13	11342	broad.mit.edu	37	3	149678547	149678547	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr3:149678547G>C	ENST00000344229.3	+	11	1504	c.802G>C	c.(802-804)Gac>Cac	p.D268H	RNF13_ENST00000392894.3_Missense_Mutation_p.D268H|RNF13_ENST00000361785.6_Missense_Mutation_p.D149H	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	268					protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CAAGTGTGTAGACCCTTGGCT	0.373000													7	49					0	0	1	0	0
AQP6	363	broad.mit.edu	37	12	50369356	50369356	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:50369356G>A	ENST00000315520.5	+	4	1088	c.751G>A	c.(751-753)Ggc>Agc	p.G251S	AQP6_ENST00000551733.1_Missense_Mutation_p.G77S	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	251					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						TATCCTCACAGGCACCGTAGA	0.652000													12	58					0	0	1	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3765483	3765483	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:3765483C>T	ENST00000440314.2	-	9	1325	c.852G>A	c.(850-852)caG>caA	p.Q284Q	EFCAB4B_ENST00000252322.1_Silent_p.Q284Q|EFCAB4B_ENST00000444507.1_Silent_p.Q284Q	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	284					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			ATACCCTTTTCTGCTTCTGGG	0.532000													18	46					0	0	1	0	0
ERMAP	114625	broad.mit.edu	37	1	43308795	43308795	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:43308795G>A	ENST00000328249.3	+	9	2088	c.1050G>A	c.(1048-1050)gtG>gtA	p.V350V	RP11-342M1.3_ENST00000444563.1_RNA|RP11-342M1.3_ENST00000416809.2_RNA|ERMAP_ENST00000372514.3_Silent_p.V440V|ERMAP_ENST00000372517.2_Silent_p.V440V|RP11-342M1.3_ENST00000425076.1_RNA|RP11-342M1.3_ENST00000414798.1_RNA|ERMAP_ENST00000487556.1_3'UTR			Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	440	B30.2/SPRY.		Missing (in Sc-3 allele).			integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCCTCAAGGTGAACTCTTCTT	0.517000													9	67					0	0	1	0	0
SAE1	10055	broad.mit.edu	37	19	47658465	47658465	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:47658465A>G	ENST00000413379.3	+	5	724	c.622A>G	c.(622-624)Aaa>Gaa	p.K208E	SAE1_ENST00000598840.1_Intron|SAE1_ENST00000540850.1_Missense_Mutation_p.K34E|SAE1_ENST00000392776.3_Missense_Mutation_p.K208E|SAE1_ENST00000270225.7_Missense_Mutation_p.K208E	NM_001145713.1	NP_001139185.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	208					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		AACGATGGTCAAAAAGGTATG	0.478000													5	59					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57528958	57528958	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr7:57528958C>A	ENST00000420713.1	+	4	903	c.791C>A	c.(790-792)aCt>aAt	p.T264N		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						AGAATTCATACTGGAGAGAAA	0.403000													4	22					2.56e-06	2.84775e-06	1	1	0
CENPL	91687	broad.mit.edu	37	1	173772179	173772179	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:173772179G>A	ENST00000356198.2	-	6	1308	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	CENPL_ENST00000367710.3_Silent_p.F295F|CENPL_ENST00000345664.6_Silent_p.F295F	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	295					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						AATGAATTTTGAAATGTCTAT	0.378000													9	54					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215862508	215862508	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:215862508G>A	ENST00000272895.7	-	23	3424	c.3205C>T	c.(3205-3207)Ctt>Ttt	p.L1069F	ABCA12_ENST00000389661.4_Missense_Mutation_p.L751F	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1069					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACAATTGGAAGAGAATAAGAG	0.353000													7	36					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55797916	55797916	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr11:55797916A>G	ENST00000313555.1	+	1	22	c.22A>G	c.(22-24)Atg>Gtg	p.M8V		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TAATTACACCATGCCAACTGA	0.388000													18	25					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56357035	56357035	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr6:56357035C>T	ENST00000370754.5	-	85	20653	c.20654G>A	c.(20653-20655)aGa>aAa	p.R6885K	DST_ENST00000446842.2_Missense_Mutation_p.R6381K|DST_ENST00000244364.6_Missense_Mutation_p.R4293K|DST_ENST00000421834.2_Missense_Mutation_p.R4619K|DST_ENST00000370769.4_Missense_Mutation_p.R6707K|DST_ENST00000370788.2_Missense_Mutation_p.R4510K|DST_ENST00000361203.3_Missense_Mutation_p.R6596K|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	6705					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGCTTGGCTCTCTTCCTTGC	0.373000													5	44					0	0	1	0	0
OTC	5009	broad.mit.edu	37	X	38226620	38226620	+	Missense_Mutation	SNP	G	G	A	rs66521141		TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chrX:38226620G>A	ENST00000039007.4	+	2	306	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	TM4SF2_ENST00000465127.1_Intron|OTC_ENST00000488812.1_3'UTR	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	52					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	TACCGGAGAAGAAATTAAATA	0.363000													4	37					0	0	1	0	0
GPHB5	122876	broad.mit.edu	37	14	63784461	63784461	+	RNA	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr14:63784461C>A	ENST00000539258.1	-	0	159							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5							extracellular region	hormone activity			breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		ACGGCACAGCCCACAAAGGTG	0.627000													6	23					8.12818e-05	8.81962e-05	1	1	0
RASAL1	8437	broad.mit.edu	37	12	113552642	113552642	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:113552642C>G	ENST00000546530.1	-	13	1429	c.1144G>C	c.(1144-1146)Gag>Cag	p.E382Q	RASAL1_ENST00000548055.1_Missense_Mutation_p.E382Q|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000261729.5_Missense_Mutation_p.E382Q|RASAL1_ENST00000446861.3_Missense_Mutation_p.E382Q	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	382	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GGATCCAGCTCCATGTACTTC	0.632000													18	300					0	0	1	0	0
SLC2A13	114134	broad.mit.edu	37	12	40223952	40223952	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:40223952G>A	ENST00000280871.4	-	7	1448	c.1398C>T	c.(1396-1398)tcC>tcT	p.S466S		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	466						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				CTGGAACACAGGAGGAGTCAA	0.373000										HNSCC(50;0.14)			5	35					0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43548861	43548861	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr15:43548861C>T	ENST00000220420.5	-	4	467	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	TGM5_ENST00000349114.4_Missense_Mutation_p.E72K	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	154					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CTCTGGGGTTCACTGTCCAAG	0.527000													13	87					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995819	140995819	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chrX:140995819G>A	ENST00000285879.4	+	4	2915	c.2629G>A	c.(2629-2631)Gaa>Aaa	p.E877K	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	877							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGTAGATGAATATACAAG	0.493000										HNSCC(15;0.026)			42	62					0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5968635	5968635	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr11:5968635G>A	ENST00000329564.6	+	1	66	c.59G>A	c.(58-60)tGt>tAt	p.C20Y		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTTGAATTGTTTTGTCAGA	0.502000													11	27					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122758610	122758610	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:122758610C>T	ENST00000358808.2	-	24	4187	c.4033G>A	c.(4033-4035)Ggg>Agg	p.G1345R	CLIP1_ENST00000540539.1_Missense_Mutation_p.G35R|CLIP1_ENST00000545889.1_Missense_Mutation_p.G931R|CLIP1_ENST00000540338.1_Missense_Mutation_p.G1356R|CLIP1_ENST00000537178.1_Missense_Mutation_p.G1310R|CLIP1_ENST00000536634.1_5'UTR|CLIP1_ENST00000361654.4_Missense_Mutation_p.G1234R|CLIP1_ENST00000302528.7_Missense_Mutation_p.G1345R	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1356					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	p.G1345W(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		AGGTCATCCCCGTTCCCATTC	0.453000													33	169					0	0	1	0	0
LINC01205	401082	broad.mit.edu	37	3	109128857	109128857	+	RNA	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr3:109128857G>T	ENST00000497996.1	+	0	21																											GCACTCTTGTGAGCGGCTTTT	0.512000													4	8					0.00909568	0.00939014	1	1	0
SZT2	23334	broad.mit.edu	37	1	43897166	43897166	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:43897166G>A	ENST00000562955.1	+	34	4889	c.4889G>A	c.(4888-4890)aGa>aAa	p.R1630K	SZT2_ENST00000372442.1_Missense_Mutation_p.R788K	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1687						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						ACGCCCCACAGACTGGCTATT	0.463000													8	135					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196965259	196965259	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:196965259G>A	ENST00000367414.5	+	6	1026	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	CFHR5_ENST00000256785.4_Missense_Mutation_p.E300K	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	300	Sushi 5.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TTGCAGAAATGAATATGCAAT	0.383000													4	81					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47805793	47805793	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr21:47805793G>A	ENST00000359568.5	+	17	3466	c.3359G>A	c.(3358-3360)cGc>cAc	p.R1120H	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1120					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GAAGAGTGCCGCTCCGAGTTG	0.502000													11	90					0	0	1	0	0
SPDYE1	285955	broad.mit.edu	37	7	44046895	44046895	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr7:44046895G>A	ENST00000258704.3	+	5	798	c.661G>A	c.(661-663)Gac>Aac	p.D221N	POLR2J4_ENST00000427076.1_RNA|RP5-1165K10.2_ENST00000454572.1_RNA|AC004951.6_ENST00000447643.1_lincRNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	221										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						GGAGGAGGACGACGAGGACTC	0.557000													16	102					0	0	1	0	0
SUZ12	23512	broad.mit.edu	37	17	30320997	30320997	+	Silent	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:30320997C>G	ENST00000322652.5	+	12	1636	c.1407C>G	c.(1405-1407)ctC>ctG	p.L469L	SUZ12_ENST00000580398.1_Silent_p.L446L	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	469					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				ATCTTAAACTCTGCCATAGCA	0.348000			T	JAZF1	endometrial stromal tumours								3	47					0	0	1	0	0
RINT1	60561	broad.mit.edu	37	7	105206037	105206037	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr7:105206037C>T	ENST00000257700.2	+	14	2359	c.2128C>T	c.(2128-2130)Cgg>Tgg	p.R710W	EFCAB10_ENST00000480514.1_Intron|EFCAB10_ENST00000485614.1_Missense_Mutation_p.E137K	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	710	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGATATGACTCGGAATCTTTT	0.308000													4	15					0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223441986	223441986	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:223441986C>T	ENST00000343846.3	-	3	1026	c.393G>A	c.(391-393)gaG>gaA	p.E131E	SUSD4_ENST00000366878.4_Silent_p.E131E|SUSD4_ENST00000494793.2_Silent_p.E131E|SUSD4_ENST00000344029.6_Silent_p.E131E|SUSD4_ENST00000484758.2_Silent_p.E60E|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000478605.1_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	131	Sushi 2.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		TGTTATGAATCTCAGCATCTT	0.383000													4	78					0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119014867	119014867	+	Silent	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr10:119014867C>G	ENST00000298472.5	+	7	923	c.780C>G	c.(778-780)ctC>ctG	p.L260L	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	260					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CCCTGGTACTCTTGGATGGAG	0.627000													4	31					0	0	1	0	0
OR8B8	26493	broad.mit.edu	37	11	124310304	124310304	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr11:124310304G>A	ENST00000328064.2	-	1	750	c.678C>T	c.(676-678)ttC>ttT	p.F226F		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AATCAATGTGGAAGATGCTGG	0.473000													49	63					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43897177	43897177	+	Nonsense_Mutation	SNP	G	G	T	rs76392948		TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:43897177G>T	ENST00000562955.1	+	34	4900	c.4900G>T	c.(4900-4902)Gag>Tag	p.E1634*	SZT2_ENST00000372442.1_Nonsense_Mutation_p.E792*	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1691						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						ACTGGCTATTGAGACCACCAT	0.468000													9	115					0.000673444	0.000711891	1	1	0
RARA	5914	broad.mit.edu	37	17	38499089	38499089	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:38499089C>T	ENST00000394081.3	+	1	475	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	RARA_ENST00000394089.2_Intron|RARA_ENST00000425707.3_Intron|CTD-2267D19.2_ENST00000581080.1_RNA|RARA_ENST00000394086.3_Intron|RARA_ENST00000254066.5_Intron	NM_001024809.3	NP_001019980.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	56	Modulating.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CACCCCGCTCCGGACTCCGCT	0.602000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL								21	189					0	0	1	0	0
AIG1	51390	broad.mit.edu	37	6	143458088	143458088	+	Silent	SNP	G	G	A	rs147573390		TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr6:143458088G>A	ENST00000494282.2	+	2	283	c.258G>A	c.(256-258)cgG>cgA	p.R86R	AIG1_ENST00000367598.5_Silent_p.R86R|AIG1_ENST00000357847.4_Silent_p.R86R|AIG1_ENST00000344492.5_Intron|AIG1_ENST00000275235.4_Silent_p.R86R			Q9NVV5	AIG1_HUMAN	androgen-induced 1	86						integral to membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246)		TCTCTCTCCGGGACTGGATGT	0.478000													6	70					0	0	1	0	0
RPS6KB2	6199	broad.mit.edu	37	11	67200436	67200436	+	Silent	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr11:67200436G>C	ENST00000312629.5	+	8	675	c.630G>C	c.(628-630)ctG>ctC	p.L210L	AP003419.16_ENST00000535922.1_RNA|RPS6KB2_ENST00000524814.1_3'UTR|RPS6KB2_ENST00000539188.1_3'UTR	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	210	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			ACATCAAACTGACCGACTTTG	0.612000													3	18					0	0	1	0	0
ZNF682	91120	broad.mit.edu	37	19	20117401	20117401	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:20117401T>G	ENST00000397165.2	-	4	1070	c.910A>C	c.(910-912)Aag>Cag	p.K304Q	ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000358523.5_Missense_Mutation_p.K272Q|ZNF682_ENST00000595736.1_Missense_Mutation_p.K228Q|ZNF682_ENST00000597972.1_Missense_Mutation_p.K310Q|ZNF682_ENST00000397162.1_Missense_Mutation_p.K272Q	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TGAATTGTCTTATGTTTGGTG	0.408000													6	100					0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57079000	57079000	+	Silent	SNP	T	T	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr8:57079000T>C	ENST00000316981.3	-	5	1784	c.1305A>G	c.(1303-1305)ctA>ctG	p.L435L	PLAG1_ENST00000429357.2_Silent_p.L435L|PLAG1_ENST00000423799.2_Silent_p.L353L	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	435	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TCCCCACTGATAGAGGATTAT	0.448000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								30	35					0	0	1	0	0
ZNF791	163049	broad.mit.edu	37	19	12739386	12739386	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:12739386G>C	ENST00000343325.4	+	4	1205	c.1043G>C	c.(1042-1044)aGa>aCa	p.R348T	ZNF791_ENST00000540038.1_Missense_Mutation_p.R239T|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000458122.3_Missense_Mutation_p.R316T	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GTACACGTGAGAGTGCATACT	0.403000													4	68					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16359575	16359575	+	Silent	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr20:16359575G>T	ENST00000354981.2	-	19	3229	c.3072C>A	c.(3070-3072)acC>acA	p.T1024T	KIF16B_ENST00000355755.3_Silent_p.T1024T|KIF16B_ENST00000378003.2_Silent_p.T250T|KIF16B_ENST00000408042.1_Silent_p.T1024T	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1024	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCATGCCCAGGGTGGAGTGCC	0.607000													17	51					1.99824e-07	2.27126e-07	1	1	0
SLC24A4	123041	broad.mit.edu	37	14	92915497	92915497	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr14:92915497G>C	ENST00000532405.1	+	10	1043	c.817G>C	c.(817-819)Gag>Cag	p.E273Q	SLC24A4_ENST00000351924.5_Missense_Mutation_p.E256Q|SLC24A4_ENST00000298877.1_Missense_Mutation_p.E256Q|SLC24A4_ENST00000531433.1_Missense_Mutation_p.E273Q|SLC24A4_ENST00000393265.2_Missense_Mutation_p.E209Q			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	273						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CAGTGAGCTGGAGGCTGGTAA	0.512000													3	25					0	0	1	0	0
RPS20	6224	broad.mit.edu	37	8	56986298	56986298	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr8:56986298C>G	ENST00000519807.1	-	3	258	c.133G>C	c.(133-135)Gaa>Caa	p.E45Q	RPS20_ENST00000523936.1_Missense_Mutation_p.E45Q|RPS20_ENST00000009589.3_Missense_Mutation_p.E45Q|RPS20_ENST00000519606.1_Intron|RPS20_ENST00000518875.1_Missense_Mutation_p.E45Q|RPS20_ENST00000521262.1_Missense_Mutation_p.E45Q|RPS20_ENST00000520627.1_5'UTR|RPS20_ENST00000520490.1_Intron|RPS20_ENST00000524349.1_5'UTR	NM_001146227.1	NP_001139699.1	P60866	RS20_HUMAN	ribosomal protein S20	45					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome						all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	Epithelial(17;0.00117)|all cancers(17;0.00879)			AGATTCTTTTCTTTTGCGCCT	0.418000													64	88					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32361363	32361363	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chrX:32361363G>A	ENST00000357033.4	-	40	5833	c.5627C>T	c.(5626-5628)tCt>tTt	p.S1876F	DMD_ENST00000378677.2_Missense_Mutation_p.S1872F	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1876	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.S1871Y(1)|p.S1872Y(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCACTGATGAGAAATTTCTAG	0.388000													5	59					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120531033	120531033	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr11:120531033C>T	ENST00000527524.2	+	3	293	c.6C>T	c.(4-6)ccC>ccT	p.P2P	GRIK4_ENST00000438375.2_Silent_p.P2P	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	2					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)	AGAAGATGCCCCGCGTCTCGG	0.637000											OREG0021424	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	19					0	0	1	0	0
KLHL24	54800	broad.mit.edu	37	3	183382715	183382715	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr3:183382715G>C	ENST00000454652.2	+	6	1498	c.1112G>C	c.(1111-1113)aGa>aCa	p.R371T	KLHL24_ENST00000242810.6_Missense_Mutation_p.R371T|KLHL24_ENST00000476808.1_Missense_Mutation_p.R371T	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24							axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CAAGGTGGAAGAATCAACAGC	0.403000													13	110					0	0	1	0	0
ZMYM4	9202	broad.mit.edu	37	1	35885186	35885186	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:35885186A>G	ENST00000314607.6	+	30	4635	c.4555A>G	c.(4555-4557)Acc>Gcc	p.T1519A	ZMYM4_ENST00000373297.2_Missense_Mutation_p.T1430A	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1519					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AACCCTGGACACCATGTTAAC	0.463000													20	42					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25888133	25888133	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr10:25888133C>T	ENST00000376351.3	+	11	3937	c.3578C>T	c.(3577-3579)tCt>tTt	p.S1193F	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1193						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						TTACCTGCCTCTTCTGCTCTA	0.458000													3	35					0	0	1	0	0
SLC37A1	54020	broad.mit.edu	37	21	43963555	43963555	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr21:43963555G>C	ENST00000352133.2	+	8	1555	c.573G>C	c.(571-573)ttG>ttC	p.L191F	SLC37A1_ENST00000398341.3_Missense_Mutation_p.L191F			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	191					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						GGAGAGGTTTGATTATGGGGG	0.562000													13	159					0	0	1	0	0
TCEA2	6919	broad.mit.edu	37	20	62701844	62701844	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr20:62701844G>C	ENST00000361317.2	+	9	1036	c.594G>C	c.(592-594)gaG>gaC	p.E198D	TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000343484.5_Missense_Mutation_p.E225D|TCEA2_ENST00000395053.3_3'UTR	NM_198723.1	NP_942016.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	225	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TGCTCCAGGAGATGGCCAGTG	0.642000													5	47					0	0	1	0	0
DHX38	9785	broad.mit.edu	37	16	72139238	72139238	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr16:72139238C>G	ENST00000268482.3	+	17	2879	c.2370C>G	c.(2368-2370)atC>atG	p.I790M	DHX38_ENST00000536867.1_Missense_Mutation_p.I102M	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	790	Helicase C-terminal.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				AGGCCAAAATCTTCCAGAAGG	0.577000													6	49					0	0	1	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111775979	111775979	+	Splice_Site	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr3:111775979G>A	ENST00000452346.2	+	10	1313		c.e10+1		TMPRSS7_ENST00000419127.1_Splice_Site			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7						proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATGAGCACATGTAAGTGATTT	0.368000													4	11					0	0	1	0	0
UBXN4	23190	broad.mit.edu	37	2	136511812	136511812	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:136511812G>C	ENST00000272638.9	+	4	609	c.298G>C	c.(298-300)Gat>Cat	p.D100H	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	100					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						TGTTTCTGCAGATGAACTTGT	0.388000													10	90					0	0	1	0	0
FN3K	64122	broad.mit.edu	37	17	80706838	80706838	+	Silent	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:80706838C>G	ENST00000300784.7	+	5	638	c.576C>G	c.(574-576)ctC>ctG	p.L192L		NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	192					fructoselysine metabolic process		fructosamine-3-kinase activity			central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CACGAGAACTCTGGTCCCGGC	0.597000													3	32					0	0	1	0	0
IQCG	84223	broad.mit.edu	37	3	197640778	197640778	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr3:197640778C>G	ENST00000265239.6	-	8	1286	c.862G>C	c.(862-864)Gag>Cag	p.E288Q	IQCG_ENST00000455191.1_Missense_Mutation_p.E288Q|IQCG_ENST00000453254.1_Missense_Mutation_p.E288Q	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	288										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		AAGAGTTCCTCTGTTCTGTTA	0.473000													9	138					0	0	1	0	0
KRT18	3875	broad.mit.edu	37	12	53346517	53346517	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:53346517C>T	ENST00000388835.3	+	7	1394	c.1184C>T	c.(1183-1185)gCc>gTc	p.A395V	KRT18_ENST00000550600.1_3'UTR|KRT18_ENST00000388837.2_Missense_Mutation_p.A395V	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	395	Tail.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						CTTGGTGATGCCTTGGACAGC	0.507000													4	72					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38652525	38652525	+	RNA	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr10:38652525G>T	ENST00000494540.1	+	0	515					NR_003086.1																						GATGTCTTTGGCCATTTTATC	0.443000													4	28					0.00909568	0.00939014	1	1	0
CCDC171	203238	broad.mit.edu	37	9	15777607	15777607	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr9:15777607C>G	ENST00000380701.3	+	19	3009	c.2681C>G	c.(2680-2682)tCc>tGc	p.S894C	CCDC171_ENST00000297641.3_Missense_Mutation_p.S894C	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	894																	GATCCAAATTCCAGAATTTGT	0.323000													9	31					0	0	1	0	0
ANKLE2	23141	broad.mit.edu	37	12	133306729	133306729	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:133306729C>T	ENST00000539605.1	-	10	8517	c.1833G>A	c.(1831-1833)agG>agA	p.R611R	ANKLE2_ENST00000357997.5_Silent_p.R673R|ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000542282.1_Silent_p.R28R|ANKLE2_ENST00000542657.1_Silent_p.R28R			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	673						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		AGGCGCTGCACCTCGTATGTC	0.532000													6	65					0	0	1	0	0
LACTB	114294	broad.mit.edu	37	15	63433491	63433491	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr15:63433491C>A	ENST00000261893.4	+	6	1203	c.1131C>A	c.(1129-1131)taC>taA	p.Y377*	RPS27L_ENST00000559763.1_Intron	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	377						mitochondrion	hydrolase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						TTTATGTTTACAATAAAAAGA	0.343000													4	50					0.00024832	0.00026543	1	1	0
CNDP1	84735	broad.mit.edu	37	18	72228177	72228177	+	Silent	SNP	C	C	T	rs145689006		TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr18:72228177C>T	ENST00000582365.1	+	3	327	c.261C>T	c.(259-261)taC>taT	p.Y87Y	CNDP1_ENST00000358821.3_Silent_p.Y130Y|CNDP1_ENST00000585136.1_Intron			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	130					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TGTGCTTCTACGGCCACTTGG	0.622000													8	86					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145155972	145155972	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:145155972G>T	ENST00000558170.2	-	8	3966	c.2782C>A	c.(2782-2784)Cag>Aag	p.Q928K	ZEB2_ENST00000303660.4_Missense_Mutation_p.Q928K|ZEB2_ENST00000539609.3_Missense_Mutation_p.Q904K|ZEB2_ENST00000409487.3_Missense_Mutation_p.Q928K	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	928						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		AAGCTCATCTGATCCAGTCCT	0.502000													15	54					0.0242445	0.0249397	1	1	0
WDR83	84292	broad.mit.edu	37	19	12780892	12780892	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:12780892G>C	ENST00000418543.3	+	4	554	c.205G>C	c.(205-207)Gag>Cag	p.E69Q	WDR83_ENST00000242796.4_Missense_Mutation_p.E69Q|WDR83OS_ENST00000600694.1_Intron|WDR83OS_ENST00000596731.1_5'UTR	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	69					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				breast(2)|large_intestine(1)|lung(1)	4						CCACGGCTACGAGGTGCTGGA	0.652000													3	40					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76350369	76350369	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr16:76350369G>A	ENST00000307431.8	+	3	527	c.142G>A	c.(142-144)Gag>Aag	p.E48K	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.E48K|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.E24K|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.E52K	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	49	F5/8 type C.				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						CAGTTCTTCCGAGCTCTCCAG	0.488000													5	25					0	0	1	0	0
MARCH4	57574	broad.mit.edu	37	2	217124269	217124269	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:217124269G>T	ENST00000273067.4	-	4	2765	c.999C>A	c.(997-999)aaC>aaA	p.N333K		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	333						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		AGGTCCGGGGGTTGGTCCTGC	0.612000													7	8					0.0381472	0.0391009	1	1	0
ZNF225	7768	broad.mit.edu	37	19	44635738	44635738	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:44635738G>A	ENST00000262894.6	+	5	1251	c.971G>A	c.(970-972)aGc>aAc	p.S324N	ZNF225_ENST00000590612.1_Missense_Mutation_p.S324N|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				TGTGGTAAGAGCTTTGGTCTG	0.408000													18	128					0	0	1	0	0
CNNM1	26507	broad.mit.edu	37	10	101090463	101090463	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr10:101090463T>C	ENST00000356713.4	+	1	1608	c.1319T>C	c.(1318-1320)tTc>tCc	p.F440S	CNNM1_ENST00000446890.1_Missense_Mutation_p.F369S|CNNM1_ENST00000370534.4_Missense_Mutation_p.F75S|CNNM1_ENST00000370528.3_Missense_Mutation_p.F369S	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	440	CBS 1.				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)		GGAGACTGCTTCATGCTGCGC	0.617000													6	45					0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119031019	119031019	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr11:119031019C>G	ENST00000307417.3	+	13	1884	c.1520C>G	c.(1519-1521)tCa>tGa	p.S507*	ABCG4_ENST00000449422.2_Nonsense_Mutation_p.S507*|ABCG4_ENST00000531739.1_Nonsense_Mutation_p.S507*	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	507	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTGCTCTTCTCAGCCCTGGCC	0.642000													5	41					0	0	1	0	0
LONP2	83752	broad.mit.edu	37	16	48381496	48381496	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr16:48381496G>A	ENST00000285737.4	+	13	2110	c.2017G>A	c.(2017-2019)Gag>Aag	p.E673K	LONP2_ENST00000535754.1_Missense_Mutation_p.E629K	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	673					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CATGTTCGTGGAGGCGAGTCG	0.547000													8	47					0	0	1	0	0
TIPARP	25976	broad.mit.edu	37	3	156396142	156396142	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr3:156396142C>T	ENST00000461166.1	+	2	1244	c.656C>T	c.(655-657)tCc>tTc	p.S219F	TIPARP_ENST00000542783.1_Missense_Mutation_p.S219F|TIPARP_ENST00000486483.1_Missense_Mutation_p.S219F|TIPARP_ENST00000295924.7_Missense_Mutation_p.S219F	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	219							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GAAGAGGCTTCCCTTGACCTC	0.438000													5	57					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177032776	177032776	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr4:177032776G>T	ENST00000393643.2	+	2	297	c.45G>T	c.(43-45)caG>caT	p.Q15H	WDR17_ENST00000507824.2_Missense_Mutation_p.Q39H|WDR17_ENST00000508596.1_Missense_Mutation_p.Q15H|WDR17_ENST00000280190.4_Missense_Mutation_p.Q39H	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	39										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)		CTGGATGTCAGCCATGGAACA	0.403000													3	48					6.4e-05	6.97078e-05	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13814745	13814745	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr5:13814745G>C	ENST00000265104.4	-	43	7303	c.7199C>G	c.(7198-7200)tCt>tGt	p.S2400C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2400	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAGGATAGAAGAGCTCATgaa	0.378000									Kartagener syndrome				3	34					0	0	1	0	0
GYS1	2997	broad.mit.edu	37	19	49481205	49481205	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:49481205C>T	ENST00000323798.3	-	10	1480	c.1284G>A	c.(1282-1284)atG>atA	p.M428I	GYS1_ENST00000540532.1_3'UTR|GYS1_ENST00000544287.1_Missense_Mutation_p.M61I|GYS1_ENST00000541188.1_Missense_Mutation_p.M348I|GYS1_ENST00000263276.6_Missense_Mutation_p.M364I	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	428					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TGGCTCTCTTCATCATAGTGA	0.537000													8	28					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51772832	51772832	+	Silent	SNP	T	T	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr15:51772832T>A	ENST00000251076.5	-	24	6758	c.6471A>T	c.(6469-6471)gtA>gtT	p.V2157V	DMXL2_ENST00000449909.3_Silent_p.V1521V|DMXL2_ENST00000543779.2_Silent_p.V2157V|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2157						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AGCTGAGAAATACTCTCAGGA	0.448000													7	89					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216051154	216051154	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:216051154C>A	ENST00000366943.2	-	43	9013	c.8627G>T	c.(8626-8628)tGg>tTg	p.W2876L	USH2A_ENST00000307340.3_Missense_Mutation_p.W2876L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2876	Fibronectin type-III 15.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AATATTGTGCCACCGATTTAA	0.388000										HNSCC(13;0.011)			21	176					3.83957e-06	4.24646e-06	1	1	0
GCOM1	145781	broad.mit.edu	37	15	57921945	57921945	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr15:57921945C>G	ENST00000574161.1	+	6	690	c.571C>G	c.(571-573)Caa>Gaa	p.Q191E	GCOM1_ENST00000587652.1_Missense_Mutation_p.Q191E|GCOM1_ENST00000572390.1_Missense_Mutation_p.Q191E|MYZAP_ENST00000267853.5_Missense_Mutation_p.Q191E|GCOM1_ENST00000380569.2_Missense_Mutation_p.Q191E|GCOM1_ENST00000380560.2_Missense_Mutation_p.Q122E|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000396180.1_Missense_Mutation_p.Q160E|GCOM1_ENST00000380568.3_Missense_Mutation_p.Q191E|MYZAP_ENST00000380565.4_Missense_Mutation_p.Q191E|GCOM1_ENST00000380561.2_Missense_Mutation_p.Q160E	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		191					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						CATTAAGGATCAAATCAGAAA	0.448000													5	65					0	0	1	0	0
G6PC3	92579	broad.mit.edu	37	17	42153181	42153181	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:42153181G>T	ENST00000269097.4	+	6	1042	c.811G>T	c.(811-813)Gcc>Tcc	p.A271S		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	271					gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCCCTGCTATGCCCAGGTGCG	0.672000													5	37					0.000602214	0.000638948	1	1	0
ZNF770	54989	broad.mit.edu	37	15	35275547	35275547	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr15:35275547T>C	ENST00000356321.4	-	3	433	c.89A>G	c.(88-90)aAt>aGt	p.N30S		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	30					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		AAAACAAATATTGCAAACATA	0.343000													13	26					0	0	1	0	0
UBL4A	8266	broad.mit.edu	37	X	153713947	153713947	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chrX:153713947G>C	ENST00000369660.4	-	4	490	c.405C>G	c.(403-405)atC>atG	p.I135M	UBL4A_ENST00000369653.4_Missense_Mutation_p.I135M|UBL4A_ENST00000477777.1_5'UTR	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN	ubiquitin-like 4A	135					protein modification process|tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	small conjugating protein ligase activity			endometrium(5)|lung(1)|urinary_tract(1)	7	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAACCGTTCGATGTCGTCCA	0.602000													14	37					0	0	1	0	0
PSMB11	122706	broad.mit.edu	37	14	23511540	23511540	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr14:23511540C>T	ENST00000408907.2	+	1	165	c.106C>T	c.(106-108)Caa>Taa	p.Q36*		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	36					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|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		TTGTGACCCTCAAACCTTCCT	0.642000													5	35					0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7046376	7046376	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:7046376A>G	ENST00000356654.4	+	5	2183	c.1946A>G	c.(1945-1947)tAc>tGc	p.Y649C	ATN1_ENST00000396684.2_Missense_Mutation_p.Y649C	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	649					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCGGGGGCCTACAAGACAGCC	0.682000													7	22					0	0	1	0	0
THAP11	57215	broad.mit.edu	37	16	67877184	67877184	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr16:67877184G>C	ENST00000303596.1	+	1	972	c.727G>C	c.(727-729)Gac>Cac	p.D243H	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		TACTGGCTCCGACCATTCGTA	0.607000													12	191					0	0	1	0	0
TFAP2A	7020	broad.mit.edu	37	6	10398935	10398935	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr6:10398935C>G	ENST00000379613.3	-	7	1291	c.1035G>C	c.(1033-1035)caG>caC	p.Q345H	TFAP2A_ENST00000379604.2_Missense_Mutation_p.Q343H|TFAP2A_ENST00000379608.3_Missense_Mutation_p.Q337H|TFAP2A_ENST00000482890.1_Missense_Mutation_p.Q343H|TFAP2A_ENST00000319516.4_Missense_Mutation_p.Q339H|TFAP2A_ENST00000497266.1_5'UTR			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	343	H-S-H (helix-span-helix), dimerization.				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				CTTTGCATATCTGTCTGCAGC	0.582000													10	145					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65181723	65181723	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr18:65181723C>T	ENST00000310045.7	-	2	1626	c.153G>A	c.(151-153)caG>caA	p.Q51Q		NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	41						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GTGTTTTAAACTGATCTATAT	0.343000													6	61					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135608	55135608	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr11:55135608G>A	ENST00000314706.3	+	1	249	c.249G>A	c.(247-249)ctG>ctA	p.L83L		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GCCAGTCCCTGGGTTCCCCCA	0.423000													60	63					0	0	1	0	0
SCYL3	57147	broad.mit.edu	37	1	169831939	169831939	+	Splice_Site	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:169831939C>G	ENST00000367771.6	-	10	1170		c.e10-1		SCYL3_ENST00000367770.1_Splice_Site|SCYL3_ENST00000470238.1_Splice_Site|SCYL3_ENST00000367772.4_Splice_Site	NM_020423.6	NP_065156.5	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)						cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGCGCATGATCTACCCGAAAA	0.413000													9	115					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42607920	42607920	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr22:42607920C>G	ENST00000359486.3	-	1	3528	c.3392G>C	c.(3391-3393)aGa>aCa	p.R1131T	TCF20_ENST00000335626.4_Missense_Mutation_p.R1131T	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTCCGTACTCTGTCAAGAAA	0.567000													4	79					0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33692301	33692301	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr13:33692301C>A	ENST00000336934.5	-	8	2298	c.2182G>T	c.(2182-2184)Gct>Tct	p.A728S	STARD13_ENST00000255486.4_Missense_Mutation_p.A720S|STARD13_ENST00000399365.3_Missense_Mutation_p.A610S	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	728	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		ACATCATAAGCAGACTGGTCT	0.473000													10	63					3.07112e-06	3.40313e-06	1	1	0
SLC12A1	6557	broad.mit.edu	37	15	48566828	48566828	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr15:48566828C>G	ENST00000396577.3	+	20	2678	c.2463C>G	c.(2461-2463)atC>atG	p.I821M	SLC12A1_ENST00000558405.1_Missense_Mutation_p.I821M|SLC12A1_ENST00000380993.3_Missense_Mutation_p.I821M	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	821					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GATTTGACATCTCTCAGGTTC	0.403000													3	21					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531692	140531692	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr5:140531692C>T	ENST00000231136.1	+	1	1854	c.1854C>T	c.(1852-1854)caC>caT	p.H618H	PCDHB6_ENST00000543635.1_Silent_p.H482H	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		618	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.H618Q(2)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTGGGCGCACAATGGCGAGG	0.682000													4	29					0	0	1	0	0
RP11-192H23.4	0	broad.mit.edu	37	17	26940126	26940126	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:26940126C>T	ENST00000534850.1	-	4	478	c.447G>A	c.(445-447)gtG>gtA	p.V149V	SGK494_ENST00000469832.3_5'UTR|SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000414744.1_RNA|SGK494_ENST00000301037.5_Silent_p.V149V|RP11-192H23.4_ENST00000577790.1_Intron																endometrium(2)|kidney(2)	4						TGCACTGCCTCACGGTATCCC	0.478000											OREG0024279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	114					0	0	1	0	0
MMP8	4317	broad.mit.edu	37	11	102584485	102584485	+	Splice_Site	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr11:102584485G>T	ENST00000236826.3	-	9	1392	c.1294C>A	c.(1294-1296)Cat>Aat	p.H432N		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	432	Hemopexin-like 4.				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)		TCCTACTTACGTTCTTGCTGG	0.388000													46	45					1.1241e-08	1.29565e-08	1	1	0
CPEB1	64506	broad.mit.edu	37	15	83240207	83240207	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr15:83240207A>G	ENST00000563800.1	-	3	2072	c.347T>C	c.(346-348)cTc>cCc	p.L116P	CPEB1_ENST00000261723.6_Missense_Mutation_p.L92P|CPEB1_ENST00000398591.2_Missense_Mutation_p.L14P|CPEB1_ENST00000568757.1_Missense_Mutation_p.L14P|CPEB1_ENST00000564522.1_Missense_Mutation_p.L14P|CPEB1_ENST00000568128.1_Missense_Mutation_p.L89P|CPEB1_ENST00000562019.1_Missense_Mutation_p.L89P|CPEB1_ENST00000423133.2_Missense_Mutation_p.L14P|CPEB1_ENST00000398592.2_5'UTR|CPEB1_ENST00000450751.2_Missense_Mutation_p.L14P			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	89					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			TGCATCTGGGAGGCCACGGGA	0.552000													6	79					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196746635	196746635	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:196746635T>C	ENST00000312428.6	-	36	5945	c.5845A>G	c.(5845-5847)Att>Gtt	p.I1949V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1949	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTTGGCACAATGATTTCATTA	0.373000													17	41					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85437446	85437446	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr11:85437446C>G	ENST00000359152.5	-	1	1625	c.1626G>C	c.(1624-1626)ttG>ttC	p.L542F	SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.L18F|SYTL2_ENST00000525423.1_Missense_Mutation_p.L18F|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	49					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	p.L18L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		AAAACTTTCTCAAATTCTCAA	0.353000													6	49					0	0	1	0	0
QSOX2	169714	broad.mit.edu	37	9	139100759	139100759	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr9:139100759C>T	ENST00000358701.5	-	12	1949	c.1912G>A	c.(1912-1914)Ggg>Agg	p.G638R		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	638					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)		GCCCCGGGCCCATCCAGACTC	0.647000													13	62					0	0	1	0	0
LOXL3	84695	broad.mit.edu	37	2	74760767	74760767	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:74760767C>T	ENST00000264094.3	-	14	2299	c.2228G>A	c.(2227-2229)cGc>cAc	p.R743H	LOXL3_ENST00000409549.1_Missense_Mutation_p.R687H|LOXL3_ENST00000409249.1_Missense_Mutation_p.R461H|LOXL3_ENST00000393937.2_Missense_Mutation_p.R598H	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	743						extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						GCCAGGGTAGCGTTCAAACCT	0.572000													5	74					0	0	1	0	0
ICAM1	3383	broad.mit.edu	37	19	10394318	10394318	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:10394318G>A	ENST00000264832.3	+	3	818	c.493G>A	c.(493-495)Gag>Aag	p.E165K	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Intron	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	165	Ig-like C2-type 2.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	AGCTGTGGGGGAGCCCGCTGA	0.662000													3	14					0	0	1	0	0
METTL2A	339175	broad.mit.edu	37	17	60525120	60525120	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:60525120C>A	ENST00000311506.5	+	8	1011	c.975C>A	c.(973-975)ttC>ttA	p.F325L		NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	325							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			TTTACTTCTTCACACAAGGTA	0.423000													311	445					2.12841e-143	2.53993e-143	1	1	0
USP53	54532	broad.mit.edu	37	4	120192858	120192858	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr4:120192858A>T	ENST00000450251.1	+	12	2387	c.1843A>T	c.(1843-1845)Aat>Tat	p.N615Y	USP53_ENST00000274030.6_Missense_Mutation_p.N615Y			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	615					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						AAATATCAGTAATAAGCCTAA	0.333000													11	23					0	0	1	0	0
G6PC3	92579	broad.mit.edu	37	17	42152679	42152679	+	Splice_Site	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:42152679C>G	ENST00000269097.4	+	5	768	c.537C>G	c.(535-537)ggC>ggG	p.G179G		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	179					gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTCTCCTAGGCGCTGTCCTGG	0.592000													4	40					0	0	1	0	0
ZNF613	79898	broad.mit.edu	37	19	52448815	52448815	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:52448815G>T	ENST00000293471.6	+	6	2358	c.1679G>T	c.(1678-1680)cGt>cTt	p.R560L	ZNF613_ENST00000601794.1_Intron|ZNF613_ENST00000391794.4_Missense_Mutation_p.R524L	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		TCACATACACGTGATCTCATA	0.428000													17	26					6.49762e-13	7.64269e-13	1	1	0
ROBO2	6092	broad.mit.edu	37	3	77623778	77623778	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr3:77623778C>T	ENST00000461745.1	+	14	3000	c.2100C>T	c.(2098-2100)gtC>gtT	p.V700V	ROBO2_ENST00000487694.3_Silent_p.V716V|ROBO2_ENST00000332191.8_Silent_p.V700V	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	700	Fibronectin type-III 2.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CTGTCTTAGTCAACCTGAAAA	0.438000													6	17					0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91461462	91461462	+	Silent	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr15:91461462C>A	ENST00000360468.3	+	20	3051	c.3033C>A	c.(3031-3033)ctC>ctA	p.L1011L	MAN2A2_ENST00000430376.2_Silent_p.L201L|MAN2A2_ENST00000558538.1_3'UTR|MAN2A2_ENST00000559717.1_Silent_p.L1011L|MAN2A2_ENST00000431652.2_Silent_p.L519L	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	1011					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CATCCCTCCTCAGCCACCTGA	0.602000													12	84					2.27111e-07	2.57124e-07	1	1	0
IL16	3603	broad.mit.edu	37	15	81572063	81572063	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr15:81572063C>G	ENST00000394660.2	+	8	1389	c.1029C>G	c.(1027-1029)atC>atG	p.I343M	IL16_ENST00000302987.4_Missense_Mutation_p.I343M	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	343	Interaction with GRIN2A.				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						CGGCTCCCATCAGCACCGCCA	0.607000													3	21					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55592111	55592111	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr4:55592111G>C	ENST00000288135.5	+	9	1532	c.1435G>C	c.(1435-1437)Gat>Cat	p.D479H		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	479	Ig-like C2-type 5.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.D479fs*2(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAGTTCTATAGATTCTAGTGC	0.433000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				9	27					0	0	1	0	0
AJUBA	84962	broad.mit.edu	37	14	23451472	23451472	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr14:23451472C>A	ENST00000262713.2	-	1	379	c.4G>T	c.(4-6)Gag>Tag	p.E2*	AJUBA_ENST00000361265.4_Nonsense_Mutation_p.E2*	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	2	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										CCTAACCGCTCCATGCCCTCG	0.697000													6	39					0.248553	0.248986	1	1	0
NEDD9	4739	broad.mit.edu	37	6	11190924	11190924	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr6:11190924G>A	ENST00000379446.5	-	5	1344	c.1178C>T	c.(1177-1179)tCa>tTa	p.S393L	NEDD9_ENST00000504387.1_Missense_Mutation_p.S393L|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	393					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TGGGGAGGCTGACAGTGAGGA	0.562000													5	42					0	0	1	0	0
PRDX6	9588	broad.mit.edu	37	1	173454570	173454570	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:173454570G>A	ENST00000340385.5	+	3	455	c.323G>A	c.(322-324)cGg>cAg	p.R108Q	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	108	Thioredoxin.				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						GATAGGAATCGGGAGCTTGCC	0.448000													6	88					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10351724	10351724	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:10351724C>G	ENST00000255381.2	-	33	4755	c.4645G>C	c.(4645-4647)Gag>Cag	p.E1549Q	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1549					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						TCTGCTTCCTCTAGGGAAGTC	0.373000													5	11					0	0	1	0	0
DHRS9	10170	broad.mit.edu	37	2	169938198	169938198	+	Translation_Start_Site	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:169938198G>A	ENST00000421653.1	+	0	191				DHRS9_ENST00000412271.1_Missense_Mutation_p.G36E|DHRS9_ENST00000436483.2_Missense_Mutation_p.G36E|DHRS9_ENST00000357546.2_Missense_Mutation_p.G36E|DHRS9_ENST00000327239.4_Missense_Mutation_p.G36E|DHRS9_ENST00000602501.1_Missense_Mutation_p.G36E|DHRS9_ENST00000432060.2_Missense_Mutation_p.G96E|DHRS9_ENST00000428522.1_Missense_Mutation_p.G36E			Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9						9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TTTATCACTGGATGTGACTCG	0.413000													15	48					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95696555	95696555	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr13:95696555C>G	ENST00000376887.4	-	28	3708	c.3594G>C	c.(3592-3594)ttG>ttC	p.L1198F	ABCC4_ENST00000412704.1_Missense_Mutation_p.L1151F	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1198	ABC transporter 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CATCAATAATCAATATCTGAT	0.398000													5	8					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41551100	41551100	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr22:41551100C>T	ENST00000263253.7	+	17	4463	c.3244C>T	c.(3244-3246)Cag>Tag	p.Q1082*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1082	Bromo.				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						TGTGGACCCTCAGCTTTTAGG	0.393000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				62	154					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135320370	135320370	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr7:135320370C>T	ENST00000285968.6	+	36	5127	c.5101C>T	c.(5101-5103)Cta>Tta	p.L1701L		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1701					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TGAAGGGTCTCTAATGGAGCT	0.294000													11	91					0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47236332	47236332	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:47236332G>C	ENST00000391910.3	-	5	1151	c.701C>G	c.(700-702)tCg>tGg	p.S234W	STRN4_ENST00000263280.6_Missense_Mutation_p.S234W|STRN4_ENST00000539396.1_Missense_Mutation_p.S115W			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	234						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CACCAGCAGCGACTCCCCACC	0.647000													4	23					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31040392	31040392	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:31040392C>T	ENST00000355537.3	+	4	4013	c.3866C>T	c.(3865-3867)tCt>tTt	p.S1289F		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1289					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)					ACAGCAAATTCTGGATGTATC	0.443000													5	48					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82595458	82595458	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr7:82595458C>A	ENST00000333891.9	-	4	3983	c.3646G>T	c.(3646-3648)Gaa>Taa	p.E1216*	PCLO_ENST00000423517.2_Nonsense_Mutation_p.E1216*	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						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						TTTTTTTCTTCAGGGAGTGGC	0.368000													13	182					7.03913e-09	8.1297e-09	1	1	0
ALAS1	211	broad.mit.edu	37	3	52245469	52245469	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr3:52245469C>T	ENST00000394965.2	+	10	1861	c.1501C>T	c.(1501-1503)Cgc>Tgc	p.R501C	ALAS1_ENST00000310271.2_Missense_Mutation_p.R501C|ALAS1_ENST00000484952.1_Missense_Mutation_p.R501C|ALAS1_ENST00000469224.1_Missense_Mutation_p.R501C	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	501					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	ACGGGTGCTTCGCCGCCAGCA	0.617000													6	26					0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28822545	28822545	+	Translation_Start_Site	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr10:28822545G>A	ENST00000428935.1	+	0	122				WAC_ENST00000347934.4_Missense_Mutation_p.D13N|WAC_ENST00000532233.1_Intron|WAC_ENST00000354911.4_Missense_Mutation_p.D13N|WAC_ENST00000375646.1_Intron|WAC_ENST00000375664.4_Intron			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						GAGACTCAGTGATGGGTAAAT	0.657000													7	23					0	0	1	0	0
FTSJ3	117246	broad.mit.edu	37	17	61898904	61898904	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:61898904G>A	ENST00000427159.2	-	16	2341	c.1696C>T	c.(1696-1698)Cag>Tag	p.Q566*		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	566					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TGCTGCTTCTGCTGCTGCTGC	0.572000													7	94					0	0	1	0	0
ECD	11319	broad.mit.edu	37	10	74908079	74908079	+	Silent	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr10:74908079G>C	ENST00000372979.4	-	8	1202	c.996C>G	c.(994-996)ctC>ctG	p.L332L	ECD_ENST00000430082.2_Silent_p.L332L|ECD_ENST00000454759.2_Silent_p.L289L	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	332					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					AACTGGCCCAGAGTGGTGAGG	0.398000													6	48					0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62254695	62254695	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:62254695C>G	ENST00000258991.3	-	6	2666	c.2582G>C	c.(2581-2583)aGc>aCc	p.S861T	TEX2_ENST00000583097.1_Missense_Mutation_p.S854T|TEX2_ENST00000584379.1_Missense_Mutation_p.S854T			Q8IWB9	TEX2_HUMAN	testis expressed 2	854					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CTTTATTTTGCTGAGTTTCAT	0.373000													6	223					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129914155	129914155	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr10:129914155C>G	ENST00000368654.3	-	7	892	c.517G>C	c.(517-519)Gac>Cac	p.D173H	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	173					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCAACACTGTCTTTTGAGTCA	0.403000													13	97					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906171	164906171	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr3:164906171C>T	ENST00000475390.1	-	2	2891	c.2448G>A	c.(2446-2448)aaG>aaA	p.K816K	SLITRK3_ENST00000241274.3_Silent_p.K816K			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	816						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GGGCCCACTCCTTCTCTTTTT	0.542000										HNSCC(40;0.11)			12	43					0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17657594	17657594	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:17657594G>C	ENST00000375448.4	+	2	249	c.223G>C	c.(223-225)Gag>Cag	p.E75Q	AC004824.2_ENST00000602074.1_Intron|PADI4_ENST00000375453.1_Missense_Mutation_p.E75Q	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	75					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCCTGGGGTAGAGGTGACCCT	0.607000													8	21					0	0	1	0	0
ANO10	55129	broad.mit.edu	37	3	43591256	43591256	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr3:43591256G>A	ENST00000292246.3	-	11	1923	c.1753C>T	c.(1753-1755)Cca>Tca	p.P585S	ANO10_ENST00000451430.2_Missense_Mutation_p.P474S|ANO10_ENST00000414522.2_Missense_Mutation_p.P585S|ANO10_ENST00000396091.3_Missense_Mutation_p.P519S|ANO10_ENST00000350459.4_Missense_Mutation_p.P395S	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	585					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						TTTGATTCTGGAAAGACTGCA	0.358000													5	62					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7285523	7285523	+	Missense_Mutation	SNP	T	T	C	rs35710924		TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr10:7285523T>C	ENST00000361972.4	-	9	1207	c.1117A>G	c.(1117-1119)Aaa>Gaa	p.K373E	SFMBT2_ENST00000397167.1_Missense_Mutation_p.K373E	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	373					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TACAAACCTTTGGGAGGAGTG	0.468000													18	49					0	0	1	0	0
CDCA7L	55536	broad.mit.edu	37	7	21942680	21942680	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr7:21942680T>C	ENST00000406877.3	-	9	1529	c.1250A>G	c.(1249-1251)aAg>aGg	p.K417R	CDCA7L_ENST00000373934.4_Missense_Mutation_p.K371R|CDCA7L_ENST00000356195.5_Missense_Mutation_p.K383R	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	417					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						GCCGTCACGCTTCCGACAGTA	0.488000													62	27					0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48917285	48917285	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:48917285T>C	ENST00000263269.3	+	4	1211	c.1123T>C	c.(1123-1125)Tcc>Ccc	p.S375P		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	375						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CCGGGATTACTCCTTCAATGA	0.597000													5	30					0	0	1	0	0
KRTAP9-9	81870	broad.mit.edu	37	17	39411743	39411743	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:39411743T>G	ENST00000394008.1	+	1	108	c.106T>G	c.(106-108)Tcc>Gcc	p.S36A		NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	36						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CTGCCAGCCCTCCTGCTGTGT	0.637000													7	44					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47788889	47788889	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr4:47788889C>T	ENST00000273857.4	-	3	261	c.262G>A	c.(262-264)Gat>Aat	p.D88N	CORIN_ENST00000505909.1_Missense_Mutation_p.D88N|CORIN_ENST00000504584.1_Missense_Mutation_p.D88N|CORIN_ENST00000508498.1_5'UTR|CORIN_ENST00000502252.1_Intron	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	88					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						ATTTCACCATCAGTGACCAAA	0.378000													7	13					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744456	140744456	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr5:140744456G>C	ENST00000518069.1	+	1	559	c.559G>C	c.(559-561)Gat>Cat	p.D187H	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCGGAACTGATGGACAAAA	0.562000													3	14					0	0	1	0	0
PLEKHB2	55041	broad.mit.edu	37	2	131883458	131883458	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:131883458G>A	ENST00000403716.1	+	3	730	c.170G>A	c.(169-171)cGc>cAc	p.R57H	PLEKHB2_ENST00000409158.1_Missense_Mutation_p.R57H|PLEKHB2_ENST00000404460.1_Missense_Mutation_p.R57H|PLEKHB2_ENST00000438882.2_Missense_Mutation_p.R57H|PLEKHB2_ENST00000234115.6_Missense_Mutation_p.R57H|PLEKHB2_ENST00000409279.1_Missense_Mutation_p.R57H|PLEKHB2_ENST00000303908.3_Missense_Mutation_p.R57H|PLEKHB2_ENST00000538982.1_Missense_Mutation_p.R9H|PLEKHB2_ENST00000409612.1_Missense_Mutation_p.R57H|PLEKHB2_ENST00000439822.2_Missense_Mutation_p.R57H	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	57	PH.					membrane	protein binding			large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		ATCAACATCCGCACGGGGCAG	0.527000													3	27					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065944	9065944	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:9065944C>A	ENST00000397910.4	-	3	21705	c.21502G>T	c.(21502-21504)Gac>Tac	p.D7168Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7170	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						TTTGTGGTGTCCTTGCCAGTG	0.507000													5	70					4.096e-09	4.74013e-09	1	1	0
B9D1	27077	broad.mit.edu	37	17	19246784	19246784	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:19246784G>A	ENST00000395616.3	-	7	715	c.552C>T	c.(550-552)ttC>ttT	p.F184F	B9D1_ENST00000477478.2_3'UTR|B9D1_ENST00000395615.1_3'UTR|B9D1_ENST00000261499.4_Intron|B9D1_ENST00000575403.1_Intron|B9D1_ENST00000461069.2_Intron			Q9UPM9	B9D1_HUMAN	B9 protein domain 1	0					cilium assembly	centrosome|microtubule basal body	protein binding			large_intestine(3)|urinary_tract(1)	4	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					ACTGGGGACAGAAGGGCAGCA	0.567000													3	24					0	0	1	0	0
ZFR	51663	broad.mit.edu	37	5	32415272	32415272	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr5:32415272G>C	ENST00000265069.8	-	5	688	c.586C>G	c.(586-588)Caa>Gaa	p.Q196E		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	196	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		GTTGCACCTTGGCTGTAACCT	0.448000													8	65					0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57432281	57432281	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:57432281G>A	ENST00000442789.2	-	18	1962	c.1675C>T	c.(1675-1677)Cgc>Tgc	p.R559C	MYO1A_ENST00000300119.3_Missense_Mutation_p.R559C|MYO1A_ENST00000476795.1_5'UTR|MYO1A_ENST00000544473.1_Missense_Mutation_p.R397C	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	559	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GTCGGGGGGCGTTTGAGAGAT	0.562000													4	42					0	0	1	0	0
PVRL4	81607	broad.mit.edu	37	1	161049709	161049709	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:161049709G>C	ENST00000368012.3	-	2	412	c.110C>G	c.(109-111)tCa>tGa	p.S37*		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	37	Ig-like V-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TACCACGTCTGAGGTCTCCAG	0.652000													6	72					0	0	1	0	0
PCDHA7	56141	broad.mit.edu	37	5	140216029	140216029	+	Silent	SNP	A	A	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr5:140216029A>T	ENST00000525929.1	+	1	2061	c.2061A>T	c.(2059-2061)gcA>gcT	p.A687A	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.A687A|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCATTGCAGGCCCAGAGA	0.637000													9	50					0	0	1	0	0
TRIM25	7706	broad.mit.edu	37	17	54978835	54978835	+	Silent	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:54978835G>C	ENST00000316881.4	-	4	1081	c.1032C>G	c.(1030-1032)ctC>ctG	p.L344L	TRIM25_ENST00000537230.1_Silent_p.L344L	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	344	Interaction with influenza A virus NS1.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					GCTCGTTTTTGAGGTCTATGG	0.557000													27	265					0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56149583	56149583	+	Splice_Site	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:56149583C>G	ENST00000394555.2	-	2	429		c.e2-1		EFEMP1_ENST00000497698.1_5'UTR|EFEMP1_ENST00000355426.3_Splice_Site|EFEMP1_ENST00000394554.1_Splice_Site|EFEMP1_ENST00000424836.2_Splice_Site	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1						negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CATTGTGAATCTCAAAGAAAA	0.463000													6	57					0	0	1	0	0
VDR	7421	broad.mit.edu	37	12	48272843	48272843	+	Silent	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:48272843C>G	ENST00000229022.3	-	4	335	c.54G>C	c.(52-54)cgG>cgC	p.R18R	VDR_ENST00000535672.1_5'UTR|VDR_ENST00000550325.1_Silent_p.R68R|VDR_ENST00000549336.1_Silent_p.R18R|VDR_ENST00000395324.2_Silent_p.R18R	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	18					decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GGGGCACGTTCCGGTCAAAGT	0.592000													8	25					0	0	1	0	0
CARD10	29775	broad.mit.edu	37	22	37893175	37893175	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr22:37893175T>C	ENST00000403299.1	-	13	2014	c.1798A>G	c.(1798-1800)Att>Gtt	p.I600V	CARD10_ENST00000251973.5_Missense_Mutation_p.I600V|CARD10_ENST00000406271.3_Missense_Mutation_p.I314V			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	600					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GACACCCGAATAGCCAGAGAC	0.537000													3	31					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131735482	131735482	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr9:131735482C>G	ENST00000372577.2	+	12	1178	c.1157C>G	c.(1156-1158)tCt>tGt	p.S386C		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	386					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GGACTGCTCTCTTTCGTTCTG	0.498000													5	29					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21174054	21174054	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr22:21174054C>G	ENST00000255882.6	-	6	750	c.664G>C	c.(664-666)Gag>Cag	p.E222Q	PI4KA_ENST00000572273.1_Missense_Mutation_p.E164Q	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	164					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CCTTCAAGCTCTTCCAGGACA	0.517000													16	101					0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22929848	22929848	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr15:22929848G>A	ENST00000313077.7	+	6	647	c.522G>A	c.(520-522)ctG>ctA	p.L174L	CYFIP1_ENST00000560848.1_Silent_p.L174L	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	174					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TGGACGAGCTGAAGAACATGA	0.582000													5	24					0	0	1	0	0
TMEFF2	23671	broad.mit.edu	37	2	192922462	192922462	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:192922462G>T	ENST00000392314.1	-	5	870	c.479C>A	c.(478-480)tCc>tAc	p.S160Y	TMEFF2_ENST00000272771.5_Missense_Mutation_p.S160Y			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	160						extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			ATCACAGGTGGATGTCTCCTT	0.388000													4	41					0.00909568	0.00939014	1	1	0
ZDHHC7	55625	broad.mit.edu	37	16	85010725	85010725	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr16:85010725G>A	ENST00000313732.4	-	7	1078	c.726C>T	c.(724-726)atC>atT	p.I242I	ZDHHC7_ENST00000564466.1_Silent_p.I279I|ZDHHC7_ENST00000569488.1_5'UTR	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	242						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						ATATGGAGTGGATTTGGGTGC	0.433000													36	48					0	0	1	0	0
CPT2	1376	broad.mit.edu	37	1	53676925	53676925	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:53676925G>A	ENST00000371486.3	+	4	2094	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	527					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	CAGTGCTGGTGAGCTTCAGCA	0.592000													5	16					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940654	144940654	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr8:144940654G>A	ENST00000525985.1	-	2	6839	c.6768C>T	c.(6766-6768)ccC>ccT	p.P2256P				P58107	EPIPL_HUMAN	epiplakin 1	2256						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGCCGTGCCGGGCCGCAGCA	0.726000													5	68					0	0	1	0	0
F2	2147	broad.mit.edu	37	11	46750322	46750322	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr11:46750322G>A	ENST00000311907.5	+	11	1463	c.1407G>A	c.(1405-1407)aaG>aaA	p.K469K	F2_ENST00000530231.1_Intron	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	469	Peptidase S1.				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)	TGAAGCTGAAGAAGCCTGTTG	0.537000													8	42					0	0	1	0	0
OLFM1	10439	broad.mit.edu	37	9	138011649	138011649	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr9:138011649G>A	ENST00000252854.4	+	6	1216	c.1029G>A	c.(1027-1029)gaG>gaA	p.E343E	OLFM1_ENST00000371796.3_Silent_p.E334E|OLFM1_ENST00000371793.3_Silent_p.E361E	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	361	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		TGGTGGACGAGAGCGGGCTGT	0.612000													7	26					0	0	1	0	0
ABLIM3	22885	broad.mit.edu	37	5	148620285	148620285	+	Silent	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr5:148620285G>C	ENST00000506113.1	+	13	1733	c.1251G>C	c.(1249-1251)gtG>gtC	p.V417V	AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000326685.7_Intron|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000508983.1_Intron|ABLIM3_ENST00000309868.7_Silent_p.V417V|ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000356541.3_Intron			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	417					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTAGATGTGAGGTCCTCCA	0.567000													7	43					0	0	1	0	0
ERC1	23085	broad.mit.edu	37	12	1292587	1292587	+	Splice_Site	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:1292587G>A	ENST00000397203.2	+	11	2563	c.2157G>A	c.(2155-2157)aaG>aaA	p.K719K	ERC1_ENST00000360905.4_Splice_Site_p.K719K|ERC1_ENST00000543086.3_Splice_Site_p.K691K|ERC1_ENST00000546231.2_Splice_Site_p.K719K|ERC1_ENST00000589028.1_Splice_Site_p.K719K|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000355446.5_Splice_Site_p.K719K			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	719		Breakpoint for translocation to form ERC1-RET oncogene.			I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AATTGAAAAAGGTTAAAGAAA	0.333000													7	22					0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58144806	58144806	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:58144806C>G	ENST00000184956.6	-	8	1243	c.1227G>C	c.(1225-1227)caG>caC	p.Q409H	HEATR6_ENST00000585976.1_Missense_Mutation_p.Q409H	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	409							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TCATTTTACTCTGCATGCCTC	0.378000													6	90					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89259357	89259357	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr3:89259357G>A	ENST00000336596.2	+	3	726	c.501G>A	c.(499-501)gaG>gaA	p.E167E	EPHA3_ENST00000494014.1_Silent_p.E167E|EPHA3_ENST00000452448.2_Silent_p.E167E	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	167						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TCAACACTGAGATTAGAGAAG	0.403000										TSP Lung(6;0.00050)			18	74					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10920117	10920117	+	Missense_Mutation	SNP	G	G	T	rs144168764	by1000genomes	TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr21:10920117G>T	ENST00000298232.7	-	18	1450	c.1083C>A	c.(1081-1083)agC>agA	p.S361R	TPTE_ENST00000361285.4_Missense_Mutation_p.S379R|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S341R	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	379	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATTTTTCGCTGTGGGTTT	0.388000													4	85					0.000602214	0.000638948	1	1	0
TREH	11181	broad.mit.edu	37	11	118529630	118529630	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr11:118529630G>T	ENST00000529101.1	-	13	1574	c.1529C>A	c.(1528-1530)tCa>tAa	p.S510*	TREH_ENST00000530256.1_Nonsense_Mutation_p.S387*|TREH_ENST00000525958.1_Nonsense_Mutation_p.S479*|TREH_ENST00000397925.1_Nonsense_Mutation_p.S479*|TREH_ENST00000264029.4_Nonsense_Mutation_p.S510*			O43280	TREA_HUMAN	trehalase (brush-border membrane glycoprotein)	510					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity			NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		ATACATGGCTGACTTCTGCGA	0.602000													22	101					6.21321e-17	7.36856e-17	1	1	0
TRPM8	79054	broad.mit.edu	37	2	234879064	234879064	+	Silent	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:234879064G>C	ENST00000324695.4	+	17	2389	c.2349G>C	c.(2347-2349)gtG>gtC	p.V783V	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	783						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GTGATGAAGTGAGACAGGTAG	0.537000													13	76					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40645150	40645150	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:40645150T>C	ENST00000298910.7	+	9	1133	c.1075T>C	c.(1075-1077)Tgg>Cgg	p.W359R	LRRK2_ENST00000343742.2_Missense_Mutation_p.W359R	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	359					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGCATTAACGTGGCATAGAAA	0.333000											OREG0003829	type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	6	33					0	0	1	0	0
NIT1	4817	broad.mit.edu	37	1	161089000	161089000	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:161089000G>A	ENST00000368008.1	+	3	234	c.175G>A	c.(175-177)Gac>Aac	p.D59N	NIT1_ENST00000392190.5_Missense_Mutation_p.D23N|NIT1_ENST00000496861.1_3'UTR|NIT1_ENST00000368007.4_Missense_Mutation_p.D44N|NIT1_ENST00000368009.2_Missense_Mutation_p.D59N	NM_001185092.1	NP_001172021.1	Q86X76	NIT1_HUMAN	nitrilase 1	59	CN hydrolase.				nitrogen compound metabolic process	mitochondrion	nitrilase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			ATCGACGCCAGACAAGCAACA	0.557000													29	60					0	0	1	0	0
PYGB	5834	broad.mit.edu	37	20	25259738	25259738	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr20:25259738G>A	ENST00000216962.4	+	9	1155	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	349					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	CTCCATCCCTGAGCTCATGCG	0.627000													3	15					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9008296	9008296	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:9008296G>A	ENST00000397910.4	-	41	39459	c.39256C>T	c.(39256-39258)Cac>Tac	p.H13086Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13088	SEA 7.				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						GGGTTAAGGTGGTGGGTGCAG	0.567000													11	91					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158257876	158257876	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr4:158257876G>A	ENST00000296526.7	+	11	2146	c.1821G>A	c.(1819-1821)caG>caA	p.Q607Q	GRIA2_ENST00000507898.1_Silent_p.Q560Q|GRIA2_ENST00000393815.2_Silent_p.Q560Q|GRIA2_ENST00000264426.9_Silent_p.Q607Q|GRIA2_ENST00000449365.1_Silent_p.Q560Q	NM_000826.3	NP_000817	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	607			Q -> R (in RNA edited version; dbSNP:rs17850674).		synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CCTTTATGCAGCAAGGATGCG	0.408000													17	74					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62258752	62258752	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr3:62258752C>A	ENST00000474889.1	+	22	3691	c.3314C>A	c.(3313-3315)aCt>aAt	p.T1105N	PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.T1076N	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1105	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CTCGTCCAGACTGAGGTAAGG	0.428000													3	7					0.115264	0.116893	1	1	0
DSCAML1	57453	broad.mit.edu	37	11	117351930	117351930	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr11:117351930G>A	ENST00000321322.6	-	13	2796	c.2795C>T	c.(2794-2796)tCg>tTg	p.S932L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.S662L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	872	Fibronectin type-III 1.				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.S932L(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)		CTCCCCATACGAGTTGATGGC	0.637000													3	43					0	0	1	0	0
PSMB5	5693	broad.mit.edu	37	14	23495356	23495356	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr14:23495356C>G	ENST00000361611.6	-	3	997	c.734G>C	c.(733-735)cGa>cCa	p.R245P	PSMB5_ENST00000425762.2_Missense_Mutation_p.R142P|PSMB5_ENST00000493471.2_3'UTR|PSMB5_ENST00000460922.2_3'UTR	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	245					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|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)	ACTGGAGACTCGGATCCAGCC	0.542000													8	67					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39753049	39753049	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:39753049C>A	ENST00000564288.1	+	15	2377	c.1600C>A	c.(1600-1602)Cca>Aca	p.P534T	MACF1_ENST00000361689.2_Missense_Mutation_p.P539T|MACF1_ENST00000567887.1_Missense_Mutation_p.P571T|MACF1_ENST00000372915.3_Missense_Mutation_p.P539T|MACF1_ENST00000539005.1_Missense_Mutation_p.P539T|MACF1_ENST00000545844.1_Missense_Mutation_p.P539T|MACF1_ENST00000317713.7_Missense_Mutation_p.P539T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	539					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGAATTGGTTCCACCCTCTAC	0.493000													22	139					2.70639e-06	3.00478e-06	1	1	0
TARDBP	23435	broad.mit.edu	37	1	11076994	11076994	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:11076994T>G	ENST00000240185.3	+	3	446	c.332T>G	c.(331-333)cTc>cGc	p.L111R	TARDBP_ENST00000439080.2_Intron|TARDBP_ENST00000315091.3_Missense_Mutation_p.L111R	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	111	RRM 1.				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		GTGTTGGGTCTCCCATGGAAA	0.378000													6	71					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42607891	42607891	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr22:42607891C>A	ENST00000359486.3	-	1	3557	c.3421G>T	c.(3421-3423)Gat>Tat	p.D1141Y	TCF20_ENST00000335626.4_Missense_Mutation_p.D1141Y	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						ATCATACCATCTTTGTCATTT	0.552000													4	78					1.23904e-05	1.35468e-05	1	1	0
DMBX1	127343	broad.mit.edu	37	1	46972788	46972788	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:46972788G>A	ENST00000371956.4	+	1	121	c.106G>A	c.(106-108)Gac>Aac	p.D36N	DMBX1_ENST00000360032.3_Missense_Mutation_p.D36N	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	36	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GCATGCCCCCGACTACCGGCC	0.642000													5	44					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89381971	89381971	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr15:89381971C>T	ENST00000439576.2	+	3	522	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S	ACAN_ENST00000559004.1_Missense_Mutation_p.P50S|ACAN_ENST00000352105.7_Missense_Mutation_p.P50S|ACAN_ENST00000558207.1_Missense_Mutation_p.P50S|ACAN_ENST00000561243.1_Missense_Mutation_p.P50S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	50					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)			CCTCACCATCCCCTGCTATTT	0.617000													10	50					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993442	140993442	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chrX:140993442G>A	ENST00000285879.4	+	4	538	c.252G>A	c.(250-252)caG>caA	p.Q84Q	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	84							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGATTCCCCAGAGTTCTCCTG	0.577000										HNSCC(15;0.026)			14	38					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	by1000genomes	TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:45128742T>G	ENST00000575173.1	-	0	418																											TAATGATTTTTATTATACTTT	0.328000													4	67					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13894899	13894899	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr5:13894899G>C	ENST00000265104.4	-	16	2395	c.2291C>G	c.(2290-2292)tCa>tGa	p.S764*	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	764	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGGTATTTTTGACTTCACTCT	0.418000									Kartagener syndrome				11	93					0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12726156	12726156	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:12726156C>A	ENST00000376221.1	+	4	634	c.634C>A	c.(634-636)Ctt>Att	p.L212I		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	212						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CAGATCAGATCTTCCCCGGAT	0.557000													4	63					0.150653	0.151445	1	1	0
CDH13	1012	broad.mit.edu	37	16	83816995	83816995	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr16:83816995T>A	ENST00000566620.1	+	13	2342	c.2052T>A	c.(2050-2052)aaT>aaA	p.N684K	CDH13_ENST00000268613.10_Missense_Mutation_p.N731K|CDH13_ENST00000428848.3_Missense_Mutation_p.N645K	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	684	Cadherin 5.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CCTGCAGGAATTCCAAAGTGG	0.532000													18	24					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38938705	38938705	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr3:38938705G>C	ENST00000450244.1	-	14	2232	c.2034C>G	c.(2032-2034)ttC>ttG	p.F678L	SCN11A_ENST00000444237.2_Missense_Mutation_p.F678L|SCN11A_ENST00000302328.3_Missense_Mutation_p.F678L|SCN11A_ENST00000456224.3_Missense_Mutation_p.F678L			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	678					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGGCTAACTTGAAGACCCTGA	0.423000													5	29					0	0	1	0	0
MFAP1	4236	broad.mit.edu	37	15	44105312	44105312	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr15:44105312C>T	ENST00000267812.3	-	6	992	c.760G>A	c.(760-762)Gag>Aag	p.E254K		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	254						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		CGCTTGTTCTCTTCCAGCTCT	0.418000													36	195					0	0	1	0	0
USP18	11274	broad.mit.edu	37	22	18650696	18650696	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr22:18650696G>A	ENST00000215794.7	+	6	950	c.520G>A	c.(520-522)Gac>Aac	p.D174N		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	174					regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						CCGGGTGAAGGACTCCTTGAT	0.542000													9	45					0	0	1	0	0
COG3	83548	broad.mit.edu	37	13	46085987	46085987	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr13:46085987A>G	ENST00000349995.5	+	16	1919	c.1807A>G	c.(1807-1809)Aag>Gag	p.K603E	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	603					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CAGCAAAAACAAGGTTTGATG	0.403000													3	35					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160261386	160261386	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:160261386C>G	ENST00000392783.2	-	16	3301	c.2806G>C	c.(2806-2808)Gaa>Caa	p.E936Q	BAZ2B_ENST00000355831.2_Missense_Mutation_p.E902Q|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E836Q|BAZ2B_ENST00000392782.1_Missense_Mutation_p.E900Q	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	936	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTTATCTGTTCTTTTTGCTTC	0.318000													4	25					0	0	1	0	0
CAMK2B	816	broad.mit.edu	37	7	44286782	44286782	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr7:44286782G>A	ENST00000395749.2	-	6	427	c.351C>T	c.(349-351)atC>atT	p.I117I	CAMK2B_ENST00000353625.4_Silent_p.I117I|CAMK2B_ENST00000346990.4_Silent_p.I117I|CAMK2B_ENST00000502837.2_5'UTR|CAMK2B_ENST00000258682.6_Silent_p.I117I|CAMK2B_ENST00000457475.1_Silent_p.I117I|CAMK2B_ENST00000395747.2_Silent_p.I117I|CAMK2B_ENST00000358707.3_Silent_p.I117I|CAMK2B_ENST00000440254.2_Silent_p.I117I|CAMK2B_ENST00000350811.3_Silent_p.I117I|CAMK2B_ENST00000347193.4_Silent_p.I117I	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	117	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GGATCTGCTGGATACAGTGAC	0.607000													4	22					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175046898	175046898	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:175046898T>A	ENST00000239462.4	+	2	457	c.344T>A	c.(343-345)cTg>cAg	p.L115Q		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	115					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)		GTGAAGAAGCTGGAGGAAGAG	0.557000													19	29					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103299647	103299647	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr13:103299647G>C	ENST00000376052.3	+	21	2597	c.2581G>C	c.(2581-2583)Gac>Cac	p.D861H	TPP2_ENST00000376065.4_Missense_Mutation_p.D861H			P29144	TPP2_HUMAN	tripeptidyl peptidase II	861					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GATTATTTTTGACCAGAACAA	0.383000													3	32					0	0	1	0	0
CXCL1	2919	broad.mit.edu	37	4	74735435	74735435	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr4:74735435G>A	ENST00000395761.3	+	2	217	c.150G>A	c.(148-150)caG>caA	p.Q50Q	CXCL1_ENST00000509101.1_3'UTR	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)	50					actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development	extracellular space|intracellular	chemokine activity|enzyme activator activity|growth factor activity			lung(2)	2	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			AGACCCTGCAGGGAATTCACC	0.622000													13	69					0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50666597	50666597	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:50666597G>C	ENST00000371824.1	+	7	1105	c.848G>C	c.(847-849)tGg>tCg	p.W283S	ELAVL4_ENST00000371821.1_Missense_Mutation_p.W302S|ELAVL4_ENST00000371827.1_Missense_Mutation_p.W283S|ELAVL4_ENST00000371823.4_Missense_Mutation_p.W297S|ELAVL4_ENST00000357083.4_Missense_Mutation_p.W300S|ELAVL4_ENST00000371819.1_Missense_Mutation_p.W288S|ELAVL4_ENST00000448907.2_Missense_Mutation_p.W286S			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	297					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GGAACTGGGTGGTGCATCTTT	0.532000													12	48					0	0	1	0	0
WBSCR28	135886	broad.mit.edu	37	7	73275563	73275563	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr7:73275563G>A	ENST00000320531.2	+	1	75	c.39G>A	c.(37-39)ggG>ggA	p.G13G		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	13						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				GCCTTTTGGGGATCCTGTTGC	0.622000													9	25					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72346061	72346061	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr18:72346061C>G	ENST00000299687.5	+	1	3086	c.3086C>G	c.(3085-3087)tCt>tGt	p.S1029C	ZNF407_ENST00000309902.6_Missense_Mutation_p.S1029C|ZNF407_ENST00000582337.1_Missense_Mutation_p.S1029C|ZNF407_ENST00000577538.1_Missense_Mutation_p.S1029C	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1029					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GCTCACTCCTCTGCTTCTCTA	0.493000													6	71					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167064152	167064152	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:167064152G>A	ENST00000361200.2	+	2	232	c.66G>A	c.(64-66)gtG>gtA	p.V22V	DUSP27_ENST00000443333.1_Silent_p.V22V|DUSP27_ENST00000271385.5_Silent_p.V22V			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	22					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AAGCCAACGTGAGGGCGGTGC	0.602000													3	12					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212474	26212474	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chrX:26212474G>A	ENST00000379034.1	+	2	660	c.511G>A	c.(511-513)Gag>Aag	p.E171K		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	171										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGTGGCTGCCGAGGGTGAAGA	0.512000													8	23					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39013889	39013889	+	Silent	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:39013889C>G	ENST00000355481.4	+	69	10511	c.10380C>G	c.(10378-10380)gtC>gtG	p.V3460V	RYR1_ENST00000359596.3_Silent_p.V3460V|RYR1_ENST00000360985.3_Silent_p.V3460V	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3460					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)	ACTTTGTGGTCCAGAATGAGA	0.567000													15	336					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160840445	160840445	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:160840445A>T	ENST00000283243.7	-	13	2383	c.2177T>A	c.(2176-2178)tTt>tAt	p.F726Y	PLA2R1_ENST00000392771.1_Missense_Mutation_p.F726Y	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	726	C-type lectin 4.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TTACCAATTAAATTTTGAATG	0.343000													3	15					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40411879	40411879	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:40411879C>G	ENST00000221347.6	-	7	3756	c.3749G>C	c.(3748-3750)aGc>aCc	p.S1250T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1250						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)			CTGGCAGGTGCTAGAGCCCAC	0.677000													6	21					0	0	1	0	0
UBL4A	8266	broad.mit.edu	37	X	153714279	153714279	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chrX:153714279G>C	ENST00000369660.4	-	3	279	c.194C>G	c.(193-195)tCc>tGc	p.S65C	UBL4A_ENST00000369653.4_Missense_Mutation_p.S65C|UBL4A_ENST00000477777.1_5'UTR	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN	ubiquitin-like 4A	65	Ubiquitin-like.				protein modification process|tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	small conjugating protein ligase activity			endometrium(5)|lung(1)|urinary_tract(1)	7	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTTGAGCTTGGAGTTGGGCCC	0.632000													6	49					0	0	1	0	0
MGAT5	4249	broad.mit.edu	37	2	135028042	135028042	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:135028042C>T	ENST00000409645.1	+	3	579	c.327C>T	c.(325-327)gtC>gtT	p.V109V	MGAT5_ENST00000281923.2_Silent_p.V109V			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	109					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		ATCTTGTTGTCAATGGCACCG	0.423000													4	30					0	0	1	0	0
KLRG2	346689	broad.mit.edu	37	7	139138364	139138364	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr7:139138364C>G	ENST00000340940.4	-	5	1268	c.1199G>C	c.(1198-1200)aGa>aCa	p.R400T	KLRG2_ENST00000393039.2_Missense_Mutation_p.D283H	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G, member 2	400	C-type lectin.					integral to membrane	sugar binding			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					GACCCAGGGTCTTGGAGTGCT	0.622000													3	11					0	0	1	0	0
C17orf77	146723	broad.mit.edu	37	17	72588781	72588781	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:72588781C>T	ENST00000392620.1	+	3	958	c.596C>T	c.(595-597)cCc>cTc	p.P199L	C17orf77_ENST00000328023.2_Missense_Mutation_p.P199L	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	199						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						GGACTCACACCCAGCCTTGCT	0.602000													7	24					0	0	1	0	0
OR6K3	391114	broad.mit.edu	37	1	158687536	158687536	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:158687536C>T	ENST00000368146.1	-	1	417	c.418G>A	c.(418-420)Gtt>Att	p.V140I	OR6K3_ENST00000368145.1_Missense_Mutation_p.V124I			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CAGATGGCAACGTATCTGTCA	0.507000													6	54					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118376446	118376446	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr11:118376446C>T	ENST00000534358.1	+	27	9862	c.9839C>T	c.(9838-9840)tCa>tTa	p.S3280L	KMT2A_ENST00000389506.5_Missense_Mutation_p.S3277L|KMT2A_ENST00000354520.4_Missense_Mutation_p.S3239L	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CTTAATACTTCATCTCACCGA	0.433000													18	64					0	0	1	0	0
TCF23	150921	broad.mit.edu	37	2	27373035	27373035	+	Silent	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:27373035C>A	ENST00000296096.5	+	2	397	c.267C>A	c.(265-267)gtC>gtA	p.V89V		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	89	Helix-loop-helix motif.				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGCCGGGTCAGGACGCTGC	0.672000													4	49					0.150653	0.151445	1	1	0
NCDN	23154	broad.mit.edu	37	1	36024783	36024783	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:36024783G>C	ENST00000373243.2	+	2	492	c.109G>C	c.(109-111)Gag>Cag	p.E37Q	NCDN_ENST00000373253.3_Missense_Mutation_p.E20Q|NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000356090.4_Missense_Mutation_p.E37Q	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	37					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCCCACCCTGGAGCGCTACCT	0.597000													10	40					0	0	1	0	0
GDI2	2665	broad.mit.edu	37	10	5810194	5810194	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr10:5810194G>A	ENST00000380191.4	-	8	1263	c.973C>T	c.(973-975)Caa>Taa	p.Q325*	GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380132.4_Nonsense_Mutation_p.Q329*|GDI2_ENST00000380181.3_Nonsense_Mutation_p.Q280*	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	325					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						CGATTGACTTGGTTCTGTGGA	0.403000													4	71					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66467464	66467464	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr4:66467464C>T	ENST00000273854.3	-	3	1405	c.805G>A	c.(805-807)Gat>Aat	p.D269N	EPHA5_ENST00000511294.1_Missense_Mutation_p.D269N|EPHA5_ENST00000432638.2_Missense_Mutation_p.D269N|EPHA5_ENST00000354839.4_Missense_Mutation_p.D269N	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	269	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GGAGGTTCATCGGTCACAGAA	0.532000										TSP Lung(17;0.13)			4	34					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179590330	179590330	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:179590330G>A	ENST00000589042.1	-	71	20825	c.20601C>T	c.(20599-20601)gcC>gcT	p.A6867A	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.A5623A|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.A6550A|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6550	Ig-like 50.						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)			CAGGCTCTCCGGCTACAACAG	0.433000													6	31					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38986891	38986891	+	Silent	SNP	G	G	T	rs140729728	byFrequency	TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:38986891G>T	ENST00000355481.4	+	40	6716	c.6585G>T	c.(6583-6585)ccG>ccT	p.P2195P	RYR1_ENST00000359596.3_Silent_p.P2195P|RYR1_ENST00000360985.3_Silent_p.P2195P	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2195	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACCAACACCCGAACCTGATGA	0.632000													8	133					0.000673444	0.000711891	1	1	0
ZNF511	118472	broad.mit.edu	37	10	135125258	135125258	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr10:135125258G>T	ENST00000359035.3	+	5	596	c.593G>T	c.(592-594)cGg>cTg	p.R198L	ZNF511_ENST00000361518.5_Missense_Mutation_p.R198L|ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000368554.4_Missense_Mutation_p.R133L			Q8NB15	ZN511_HUMAN	zinc finger protein 511	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		AGTGGAGAGCGGTCAGAAGGG	0.637000													7	49					3.09899e-07	3.49473e-07	1	1	0
CNNM4	26504	broad.mit.edu	37	2	97427541	97427541	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:97427541C>G	ENST00000377075.2	+	1	903	c.805C>G	c.(805-807)Ctc>Gtc	p.L269V		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	269	DUF21.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CGGGTCCGGCCTCATGGCGGT	0.602000													7	73					0	0	1	0	0
SOCS7	30837	broad.mit.edu	37	17	36522182	36522182	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:36522182G>C	ENST00000577233.1	+	5	1073	c.1073G>C	c.(1072-1074)cGg>cCg	p.R358P	SOCS7_ENST00000331159.5_Missense_Mutation_p.R324P	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	358	Mediates interaction with SORBS3.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					GCATTTCCCCGGATTGCTCCC	0.577000													4	27					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985204	140985204	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chrX:140985204A>G	ENST00000298296.1	+	7	1660	c.1660A>G	c.(1660-1662)Agt>Ggt	p.S554G	MAGEC3_ENST00000536088.1_Missense_Mutation_p.S256G|MAGEC3_ENST00000443323.2_Missense_Mutation_p.S176G|MAGEC3_ENST00000409007.1_Missense_Mutation_p.S256G|MAGEC3_ENST00000544766.1_Missense_Mutation_p.S256G	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	554	MAGE 2.									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)					TCTTATTCTCAGTATGATCTT	0.483000													14	40					0	0	1	0	0
PSMB3	5691	broad.mit.edu	37	17	36909467	36909467	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:36909467C>A	ENST00000225426.4	+	2	159	c.68C>A	c.(67-69)gCt>gAt	p.A23D		NM_002795.2	NP_002786.2	P49720	PSB3_HUMAN	proteasome (prosome, macropain) subunit, beta type, 3	23					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|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(1)	4						GTGGCCATCGCTGCAGACAGG	0.612000													4	25					0.150653	0.151445	1	1	0
TBK1	29110	broad.mit.edu	37	12	64858237	64858237	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:64858237G>A	ENST00000331710.5	+	4	691	c.352G>A	c.(352-354)Gat>Aat	p.D118N		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	118	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)		TGTTTTGCGAGATGTGGGTAT	0.274000													4	96					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30921945	30921945	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr4:30921945G>C	ENST00000543491.1	+	2	3345	c.3345G>C	c.(3343-3345)agG>agC	p.R1115S	PCDH7_ENST00000509925.1_3'UTR			O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ACTATGAAAGGACCACGCCGG	0.522000													7	23					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20762675	20762675	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr7:20762675G>A	ENST00000404938.2	+	21	3110	c.2458G>A	c.(2458-2460)Gca>Aca	p.A820T	ABCB5_ENST00000258738.6_Missense_Mutation_p.A375T	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	375					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AACACAAAATGCAACTAACAT	0.373000													24	234					0	0	1	0	0
NSMAF	8439	broad.mit.edu	37	8	59514019	59514019	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr8:59514019A>G	ENST00000038176.3	-	15	1413	c.1201T>C	c.(1201-1203)Tat>Cat	p.Y401H	NSMAF_ENST00000427130.2_Missense_Mutation_p.Y432H|NSMAF_ENST00000519858.1_5'UTR	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	401	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CTAACAAGATAAAAAAGTACA	0.348000													9	22					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40083314	40083314	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr20:40083314C>T	ENST00000373233.3	-	20	3249	c.3072G>A	c.(3070-3072)caG>caA	p.Q1024Q	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1024					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TAGCCCATTTCTGCCAAAAGT	0.353000													10	96					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101595953	101595953	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr10:101595953C>T	ENST00000370449.4	+	25	3633	c.3520C>T	c.(3520-3522)Cgt>Tgt	p.R1174C		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1174	ABC transmembrane type-1 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GCCAGTTATCCGTGCCTTTGA	0.517000													7	64					0	0	1	0	0
MPPED1	758	broad.mit.edu	37	22	43870641	43870641	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr22:43870641C>T	ENST00000417669.2	+	4	876	c.432C>T	c.(430-432)atC>atT	p.I144I	MPPED1_ENST00000542779.1_Silent_p.I144I|MPPED1_ENST00000414469.2_Silent_p.I38I|MPPED1_ENST00000538182.1_Silent_p.I177I|MPPED1_ENST00000439548.1_5'UTR|MPPED1_ENST00000443721.1_Silent_p.I144I			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1								hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				AGTACAAGATCGTGATCGCAG	0.562000													7	57					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149226767	149226767	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:149226767C>A	ENST00000407073.1	+	9	2252	c.1255C>A	c.(1255-1257)Cat>Aat	p.H419N	MBD5_ENST00000404807.1_Missense_Mutation_p.H419N	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	419						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TCACATGAATCATGGGAGTCA	0.488000													14	60					4.3838e-07	4.93392e-07	1	1	0
RIPK4	54101	broad.mit.edu	37	21	43164130	43164130	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr21:43164130C>G	ENST00000352483.2	-	8	1315	c.1251G>C	c.(1249-1251)aaG>aaC	p.K417N	RIPK4_ENST00000542057.1_Missense_Mutation_p.K306N|RIPK4_ENST00000332512.3_Missense_Mutation_p.K369N|RIPK4_ENST00000544709.1_Missense_Mutation_p.K306N			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	369						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCGAGAGCCTCTTCCCACTGC	0.632000													4	38					0	0	1	0	0
RNF215	200312	broad.mit.edu	37	22	30776175	30776175	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr22:30776175C>T	ENST00000382363.3	-	7	958	c.884G>A	c.(883-885)cGc>cAc	p.R295H		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	295						integral to membrane	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CCGCACCACGCGGCGCTTAAA	0.692000													6	65					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138601915	138601915	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr7:138601915G>A	ENST00000440172.1	-	2	2505	c.2457C>T	c.(2455-2457)gaC>gaT	p.D819D	KIAA1549_ENST00000422774.1_Silent_p.D819D|KIAA1549_ENST00000242365.4_Silent_p.D769D	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	819						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ACACGTGACCGTCTAGAGCAC	0.502000			O	BRAF	pilocytic astrocytoma								4	17					0	0	1	0	0
CSTF2	1478	broad.mit.edu	37	X	100086638	100086638	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chrX:100086638G>A	ENST00000415585.2	+	10	1106	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	CSTF2_ENST00000372972.2_Missense_Mutation_p.E342K			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	342	Gly/Pro-rich.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						TGGAGAGGTAGAGCCTAGGTA	0.468000													6	42					0	0	1	0	0
LRRC37B	114659	broad.mit.edu	37	17	30376296	30376296	+	Silent	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:30376296C>G	ENST00000327564.7	+	10	2701	c.2640C>G	c.(2638-2640)ctC>ctG	p.L880L	LRRC37B_ENST00000341671.7_Silent_p.L853L|LRRC37B_ENST00000543378.2_Silent_p.L771L|LRRC37B_ENST00000584368.1_Silent_p.L814L|LRRC37B_ENST00000394713.3_Silent_p.L802L			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	853						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)				TGAAGCTTCTCAGCGAGCAGC	0.433000													3	47					0	0	1	0	0
SLC9A8	23315	broad.mit.edu	37	20	48461611	48461611	+	Translation_Start_Site	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr20:48461611C>A	ENST00000541138.1	+	0	400				SLC9A8_ENST00000361573.2_Silent_p.L129L|SLC9A8_ENST00000417961.1_Silent_p.L129L|SLC9A8_ENST00000539601.1_Intron			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8							Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TTTTCCTCCTCCTGCTTCCCC	0.363000													4	56					0.00909568	0.00939014	1	1	0
RASGRF1	5923	broad.mit.edu	37	15	79382678	79382678	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr15:79382678C>G	ENST00000419573.3	-	1	437	c.163G>C	c.(163-165)Gag>Cag	p.E55Q	RASGRF1_ENST00000558480.2_Missense_Mutation_p.E55Q	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	55	PH 1.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GAGTCGCTCTCGAAGTAGAAG	0.652000													4	45					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38537997	38537997	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr21:38537997C>A	ENST00000399017.2	+	33	6228	c.3481C>A	c.(3481-3483)Cgt>Agt	p.R1161S	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.R1161S|TTC3_ENST00000355666.1_Missense_Mutation_p.R1161S	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1161					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GGGATGCCCTCGTTTTGTTGT	0.363000													18	224					5.35267e-07	6.01258e-07	1	1	0
ZNF816	125893	broad.mit.edu	37	19	53432462	53432462	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:53432462G>A	ENST00000549216.1	-	2	259	c.189C>T	c.(187-189)atC>atT	p.I63I	ZNF816-ZNF321P_ENST00000313956.4_RNA|ZNF321P_ENST00000391777.3_Silent_p.I132I|ZNF816_ENST00000434371.2_Silent_p.I132I	NM_001202473.1	NP_001189402.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	132	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TCAACTCTTTGATTTCTGTCA	0.423000													42	167					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105105754	105105754	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr8:105105754C>T	ENST00000436393.2	+	21	3018	c.2777C>T	c.(2776-2778)tCg>tTg	p.S926L	RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	380					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACTAAATCTTCGGACAGTGAT	0.433000										HNSCC(12;0.0054)			6	81					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62212493	62212493	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr15:62212493G>C	ENST00000261517.5	-	57	7323	c.7250C>G	c.(7249-7251)tCt>tGt	p.S2417C	VPS13C_ENST00000249837.3_Missense_Mutation_p.S2374C|VPS13C_ENST00000395898.3_Missense_Mutation_p.S2374C|VPS13C_ENST00000395896.4_Missense_Mutation_p.S2417C	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2417					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						GTCCTTTAAAGAGTAGTCAAA	0.378000													8	32					0	0	1	0	0
NOL12	79159	broad.mit.edu	37	22	38084981	38084981	+	Silent	SNP	C	C	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr22:38084981C>A	ENST00000359114.4	+	4	433	c.363C>A	c.(361-363)ctC>ctA	p.L121L	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	121						nucleolus	rRNA binding	p.L121L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					CCCGGCTGCTCGGGCTGACCC	0.647000													8	93					2.80697e-09	3.25496e-09	1	1	0
ZMPSTE24	10269	broad.mit.edu	37	1	40726649	40726649	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:40726649G>A	ENST00000372759.3	+	2	427	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	ZMPSTE24_ENST00000479131.1_3'UTR	NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	88						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TTCAGAGACTGAAGGCACTGT	0.388000													5	99					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	129061980	129061980	+	Silent	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr11:129061980G>A	ENST00000310343.9	-	1	113	c.114C>T	c.(112-114)ttC>ttT	p.F38F		NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	38					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ATAATCACCTGAACTTCTCTT	0.463000													5	113					0	0	1	0	0
KLHL36	79786	broad.mit.edu	37	16	84693447	84693447	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr16:84693447G>A	ENST00000564996.1	+	4	1360	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	KLHL36_ENST00000258157.5_Intron	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	407										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CGGCCGGAATGAGAACGGAGC	0.577000													19	46					0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20107754	20107754	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:20107754C>T	ENST00000395530.2	+	2	357	c.149C>T	c.(148-150)tCa>tTa	p.S50L	SPECC1_ENST00000395527.4_Missense_Mutation_p.S131L|SPECC1_ENST00000395522.2_Missense_Mutation_p.S50L|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395525.3_Missense_Mutation_p.S50L|SPECC1_ENST00000261503.5_Missense_Mutation_p.S131L|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395529.3_Missense_Mutation_p.S131L|SPECC1_ENST00000472876.1_Intron	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	131						nucleus		p.S131L(1)		breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		CCCAGGAAATCAGTGTCCAGT	0.517000													23	175					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179396343	179396343	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:179396343T>A	ENST00000589042.1	-	358	105223	c.104999A>T	c.(104998-105000)gAa>gTa	p.E35000V	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E32432V|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E26127V|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E33359V|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E25935V|TTN_ENST00000359218.5_Missense_Mutation_p.E26060V|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589842.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33359							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)			GTCCAGAATTTCCAGGGTGAG	0.488000													11	16					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133378369	133378369	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:133378369T>A	ENST00000204726.3	-	8	2342	c.1784A>T	c.(1783-1785)gAg>gTg	p.E595V	GOLGA3_ENST00000456883.2_Missense_Mutation_p.E595V|GOLGA3_ENST00000537452.1_Missense_Mutation_p.E595V|GOLGA3_ENST00000545875.1_Missense_Mutation_p.E595V|GOLGA3_ENST00000450791.2_Missense_Mutation_p.E595V	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	595	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTGGGCCATCTCACCCTGCAG	0.592000													26	80					0	0	1	0	0
LAYN	143903	broad.mit.edu	37	11	111414781	111414781	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr11:111414781C>T	ENST00000375614.2	+	2	555	c.219C>T	c.(217-219)atC>atT	p.I73I	LAYN_ENST00000436913.2_5'UTR|LAYN_ENST00000525126.1_Silent_p.I81I|LAYN_ENST00000375615.3_Silent_p.I81I|LAYN_ENST00000533265.1_Silent_p.I73I|LAYN_ENST00000528924.1_3'UTR	NM_178834.4	NP_849156.1	Q6UX15	LAYN_HUMAN	layilin	81	C-type lectin.					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding	p.I73I(1)		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)		TAGTCAGCATCGAGTCTGAAG	0.453000													8	27					0	0	1	0	0
ZNF468	90333	broad.mit.edu	37	19	53344670	53344670	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:53344670G>A	ENST00000595646.1	-	4	997	c.877C>T	c.(877-879)Cat>Tat	p.H293Y	ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000396409.4_Missense_Mutation_p.H240Y|ZNF468_ENST00000390651.4_Missense_Mutation_p.H240Y			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TCTCCAGTATGAAGCGCTTTG	0.413000													13	105					0	0	1	0	0
AP5B1	91056	broad.mit.edu	37	11	65547169	65547169	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr11:65547169C>T	ENST00000532090.2	-	2	1005	c.795G>A	c.(793-795)cgG>cgA	p.R265R		NM_138368.4	NP_612377.4	Q2VPB7	YK046_HUMAN	adaptor-related protein complex 5, beta 1 subunit	208	Leu-rich.						protein binding			lung(1)	1						CCCGCAGCTCCCGCGCCTCCT	0.692000													5	43					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	887700	887700	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr4:887700G>A	ENST00000314167.4	-	8	949	c.839C>T	c.(838-840)cCg>cTg	p.P280L	GAK_ENST00000511163.1_Missense_Mutation_p.P201L	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	280	Protein kinase.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	p.P280L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CGTGTCGTGCGGGGGGATCGA	0.607000													5	22					0	0	1	0	0
CPVL	54504	broad.mit.edu	37	7	29126138	29126138	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr7:29126138G>C	ENST00000409850.1	-	11	1217	c.571C>G	c.(571-573)Cct>Gct	p.P191A	CPVL_ENST00000265394.5_Missense_Mutation_p.P191A|CPVL_ENST00000396276.3_Missense_Mutation_p.P191A			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	191					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TTATATTCAGGAAATATCTGG	0.333000													8	48					0	0	1	0	0
ZNF385C	201181	broad.mit.edu	37	17	40179105	40179105	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:40179105C>T	ENST00000436535.3	-	8	1310	c.1310G>A	c.(1309-1311)cGc>cAc	p.R437H	ZNF385C_ENST00000461831.1_5'UTR					zinc finger protein 385C											lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	3		all_cancers(22;0.00127)|Breast(137;0.00104)|all_epithelial(22;0.0126)				GGGCAGGAAGCGGGCTGCCAA	0.627000													4	57					0	0	1	0	0
TAOK3	51347	broad.mit.edu	37	12	118693461	118693461	+	Splice_Site	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:118693461C>T	ENST00000392533.3	-	3	403		c.e3-1		TAOK3_ENST00000419821.2_Splice_Site	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3						MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTTCAGTACCTGTAGAAAAA	0.348000													10	48					0	0	1	0	0
CSH1	1442	broad.mit.edu	37	17	61972805	61972805	+	Missense_Mutation	SNP	G	G	T	rs149415400		TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:61972805G>T	ENST00000329882.8	-	4	554	c.484C>A	c.(484-486)Cct>Act	p.P162T	CSH1_ENST00000316193.8_Intron|CSH1_ENST00000453363.3_Intron			P01243	CSH_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	0					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GGGGTTCCAGGATTGGTGACC	0.547000									Russell-Silver syndrome				16	110					1.99824e-07	2.27126e-07	1	1	0
GRM3	2913	broad.mit.edu	37	7	86415769	86415769	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr7:86415769G>T	ENST00000361669.2	+	3	1760	c.661G>T	c.(661-663)Gat>Tat	p.D221Y	AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.D93Y|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.D219Y|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.D221Y	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	221					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)	CTCCGAGGGTGATTACGGGGA	0.617000													5	38					0.000602214	0.000638948	1	1	0
GDI2	2665	broad.mit.edu	37	10	5842606	5842606	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr10:5842606G>C	ENST00000380191.4	-	2	398	c.108C>G	c.(106-108)aaC>aaG	p.N36K	GDI2_ENST00000380132.4_Missense_Mutation_p.N40K|GDI2_ENST00000380181.3_Missense_Mutation_p.N36K	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	36					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						CGTAGTAAGGGTTTCGATCCA	0.373000													11	120					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6707890	6707890	+	Silent	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:6707890C>T	ENST00000245907.6	-	15	1988	c.1896G>A	c.(1894-1896)ggG>ggA	p.G632G		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	632					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CGTAATCCTTCCCACTGCCCG	0.677000													6	50					0	0	1	0	0
GMPR	2766	broad.mit.edu	37	6	16290802	16290802	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr6:16290802G>T	ENST00000259727.4	+	8	921	c.807G>T	c.(805-807)atG>atT	p.M269I	GMPR_ENST00000544145.1_3'UTR	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	269					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				TCTACGGGATGAGCTCTGACA	0.562000													8	111					0.00448238	0.00471225	1	1	0
PTBP2	58155	broad.mit.edu	37	1	97250703	97250703	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:97250703A>G	ENST00000609116.1	+	8	879	c.797A>G	c.(796-798)aAt>aGt	p.N266S	PTBP2_ENST00000394184.3_Missense_Mutation_p.N277S|PTBP2_ENST00000370198.1_Missense_Mutation_p.N266S|PTBP2_ENST00000370197.1_Missense_Mutation_p.N266S|PTBP2_ENST00000541987.1_Missense_Mutation_p.N235S|PTBP2_ENST00000426398.2_Missense_Mutation_p.N266S|PTBP2_ENST00000482253.1_3'UTR			Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2								nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		AAATACAACAATGATAAAAGT	0.408000													8	31					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854115	12854115	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:12854115G>C	ENST00000332296.7	+	3	442	c.339G>C	c.(337-339)tgG>tgC	p.W113C		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	113										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGAATTTCTGGGCCAGATGGC	0.547000													40	262					0	0	1	0	0
TMEM150B	284417	broad.mit.edu	37	19	55831949	55831949	+	Silent	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:55831949G>T	ENST00000326652.4	-	4	287	c.105C>A	c.(103-105)ctC>ctA	p.L35L	TMEM150B_ENST00000438693.1_Silent_p.L35L	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	35						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						AGCCTTTACTGAGGTCCACAG	0.527000													9	57					1.76689e-08	2.02435e-08	1	1	0
ZIC1	7545	broad.mit.edu	37	3	147128093	147128093	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr3:147128093C>T	ENST00000282928.4	+	1	923	c.194C>T	c.(193-195)aCg>aTg	p.T65M		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	65					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						ACGGCCTTCACGTCGCAGGCG	0.697000													3	21					0	0	1	0	0
ZNF682	91120	broad.mit.edu	37	19	20117670	20117670	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:20117670G>A	ENST00000397165.2	-	4	801	c.641C>T	c.(640-642)tCa>tTa	p.S214L	ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000358523.5_Missense_Mutation_p.S182L|ZNF682_ENST00000595736.1_Missense_Mutation_p.S138L|ZNF682_ENST00000597972.1_Missense_Mutation_p.S220L|ZNF682_ENST00000397162.1_Missense_Mutation_p.S182L	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						AGTAAGGTATGAGAACCACTT	0.368000													3	28					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29206491	29206491	+	Missense_Mutation	SNP	A	A	T	rs150095617	byFrequency	TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr17:29206491A>T	ENST00000321990.4	+	18	4441	c.4063A>T	c.(4063-4065)Agt>Tgt	p.S1355C		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1355					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AATCAAGTTCAGTACTCCTTC	0.294000													9	91					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89480500	89480500	+	Silent	SNP	T	T	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr3:89480500T>C	ENST00000336596.2	+	13	2562	c.2337T>C	c.(2335-2337)taT>taC	p.Y779Y	EPHA3_ENST00000494014.1_Silent_p.Y779Y	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	779	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AAGCTGCTTATACAACAAGAG	0.393000										TSP Lung(6;0.00050)			3	13					0	0	1	0	0
RABL2B	11158	broad.mit.edu	37	22	51207240	51207240	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr22:51207240C>G	ENST00000395595.3	-	10	1121	c.654G>C	c.(652-654)gaG>gaC	p.E218D	RABL2B_ENST00000435118.1_Missense_Mutation_p.E217D|RABL2B_ENST00000395593.3_Missense_Mutation_p.E227D|RABL2B_ENST00000395598.3_Missense_Mutation_p.E217D|RABL2B_ENST00000354869.3_Missense_Mutation_p.E218D|RABL2B_ENST00000395591.1_Missense_Mutation_p.E154D|RABL2B_ENST00000465063.1_5'UTR	NM_001130921.1	NP_001124393.1	Q9UNT1	RBL2B_HUMAN	RAB, member of RAS oncogene family-like 2B	217					small GTPase mediated signal transduction		GTP binding|GTPase activity			lung(1)	1		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.0539)|LUAD - Lung adenocarcinoma(64;0.247)		CTGATGGGGTCTCGATGCTGC	0.597000													9	29					0	0	1	0	0
CAB39L	81617	broad.mit.edu	37	13	49925046	49925046	+	Translation_Start_Site	SNP	T	T	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr13:49925046T>C	ENST00000409130.1	-	0	109				CAB39L_ENST00000355854.4_Missense_Mutation_p.Y133C|CAB39L_ENST00000410043.1_Missense_Mutation_p.Y133C|CAB39L_ENST00000409308.1_Missense_Mutation_p.Y133C|CAB39L_ENST00000347776.5_Missense_Mutation_p.Y133C			Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like						cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		TGGGGCTTCATATCTAAAGCG	0.343000													8	44					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79382697	79382697	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr15:79382697C>G	ENST00000419573.3	-	1	418	c.144G>C	c.(142-144)caG>caC	p.Q48H	RASGRF1_ENST00000558480.2_Missense_Mutation_p.Q48H	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	48	PH 1.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGAGCAGGTTCTGCAGCAGCG	0.647000													6	56					0	0	1	0	0
GTF3C2	2976	broad.mit.edu	37	2	27552143	27552143	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr2:27552143G>T	ENST00000359541.2	-	14	2313	c.1884C>A	c.(1882-1884)ttC>ttA	p.F628L	GTF3C2_ENST00000264720.3_Missense_Mutation_p.F628L			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	628						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGAGACAAGGAAATGGCTGT	0.488000													19	369					2.54575e-18	3.02538e-18	1	1	0
MYLK2	85366	broad.mit.edu	37	20	30414739	30414739	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr20:30414739A>G	ENST00000375994.2	+	7	1495	c.1222A>G	c.(1222-1224)Aag>Gag	p.K408E	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.K408E			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	408	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCTGGACCTCAAGGTACCAGA	0.597000													6	19					0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20180732	20180732	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr7:20180732T>C	ENST00000400331.5	-	7	2704	c.2396A>G	c.(2395-2397)tAt>tGt	p.Y799C	MACC1_ENST00000589011.1_Missense_Mutation_p.Y799C|MACC1_ENST00000332878.4_Missense_Mutation_p.Y799C	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	799					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GTTATTTCCATAGTGAGCACT	0.378000													180	78					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996207	140996207	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chrX:140996207T>C	ENST00000285879.4	+	4	3303	c.3017T>C	c.(3016-3018)aTc>aCc	p.I1006T	MAGEC1_ENST00000406005.2_Missense_Mutation_p.I73T	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1006	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ATTCTGAGTATCATCTTCATA	0.517000										HNSCC(15;0.026)			17	39					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66765681	66765681	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr12:66765681C>T	ENST00000359742.4	-	23	3045	c.2805G>A	c.(2803-2805)atG>atA	p.M935I	GRIP1_ENST00000286445.7_Missense_Mutation_p.M920I|GRIP1_ENST00000398016.3_Missense_Mutation_p.M883I			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	935					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GATTCAAACTCATCGTGCTCC	0.522000													6	200					0	0	1	0	0
CAP1	10487	broad.mit.edu	37	1	40529962	40529963	+	In_Frame_Ins	INS	-	-	AGA			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr1:40529962_40529963insAGA	ENST00000372797.3	+	5	919_920	c.358_359insAGA	c.(358-360)gag>gAGAag	p.121_122insK	CAP1_ENST00000340450.3_In_Frame_Ins_p.120_121insK|CAP1_ENST00000372802.1_In_Frame_Ins_p.120_121insK|CAP1_ENST00000372805.3_In_Frame_Ins_p.121_122insK|CAP1_ENST00000372792.2_In_Frame_Ins_p.121_122insK|CAP1_ENST00000372798.1_In_Frame_Ins_p.120_121insK	NM_001105530.1|NM_006367.3	NP_001099000|NP_006358	Q01518	CAP1_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	121					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AACCTTTCGGGAGAAGAACCGA	0.475													10	85	---	---	---	---					
PABPC3	5042	broad.mit.edu	37	13	25670381	25670381	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr13:25670381delG	ENST00000281589.3	+	1	82	c.45delG	c.(43-45)gtgfs	p.V15fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	15	RRM 1.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CGCTCTACGTGGGGGACCTCC	0.637													10	57	---	---	---	---					
RYR3	6263	broad.mit.edu	37	15	33955087	33955087	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr15:33955087delG	ENST00000389232.4	+	35	5426	c.5356delG	c.(5356-5358)ggcfs	p.G1786fs	RYR3_ENST00000415757.3_Frame_Shift_Del_p.G1786fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1786	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAGAAGGCCGGCAAGGAGGC	0.567													26	139	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933																											AACCTGTACTCGCGTCGGAACC	0.589													3	3	---	---	---	---					
PDXDC2P	283970	broad.mit.edu	37	16	70066043	70066043	+	RNA	DEL	A	A	-			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr16:70066043delA	ENST00000531894.1	-	0	751					NR_003610.1																						AGCCAAGCCGAAAAAAAAAAA	0.289													2	4	---	---	---	---					
PLIN4	729359	broad.mit.edu	37	19	4513337	4513338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:4513337_4513338insC	ENST00000301286.3	-	3	591_592	c.592_593insG	c.(592-594)gcafs	p.A198fs		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	198	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CAAGTTCACTGCCCCCATGACC	0.599													7	136	---	---	---	---					
PNMAL1	55228	broad.mit.edu	37	19	46974024	46974024	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr19:46974024delC	ENST00000313683.10	-	2	574	c.269delG	c.(268-270)ggtfs	p.G91fs	PNMAL1_ENST00000438932.2_Frame_Shift_Del_p.G91fs|PNMAL1_ENST00000602246.1_Intron	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	91										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		ccagacaccaccccttcctgg	0.502													16	21	---	---	---	---					
ATP9A	10079	broad.mit.edu	37	20	50305661	50305662	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chr20:50305661_50305662insG	ENST00000338821.5	-	9	1004_1005	c.740_741insC	c.(739-741)ccgfs	p.P247fs	ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	247					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						TCTCGCTGATCGGGGGGTCGCT	0.564													12	137	---	---	---	---					
CXorf36	79742	broad.mit.edu	37	X	45011113	45011114	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-FD-A6TG-01A-11D-A32B-08	TCGA-FD-A6TG-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62cdfd24-366c-47f6-a291-15e19b11b2cf	f3bcf84a-393e-4c7a-8eaf-e386bd583794	g.chrX:45011113_45011114delAC	ENST00000398000.2	-	5	1159_1160	c.1085_1086delGT	c.(1084-1086)tgtfs	p.C362fs	CXorf36_ENST00000477281.1_5'UTR	NM_176819.3	NP_789789.2	Q9H7Y0	CX036_HUMAN	chromosome X open reading frame 36	362						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						GCAACTTCTGACACACCAGCAC	0.574													5	3	---	---	---	---