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
RIMS1	22999	broad.mit.edu	37	6	72975138	72975138	+	Silent	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr6:72975138G>A	ENST00000521978.1	+	21	3240	c.3240G>A	c.(3238-3240)caG>caA	p.Q1080Q	RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000401910.3_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1080					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TGACTAGACAGGACATTTCCC	0.303000													17	37					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11687704	11687704	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr17:11687704C>T	ENST00000262442.3	+	41	7977	c.7909C>T	c.(7909-7911)Ctc>Ttc	p.L2637F	DNAH9_ENST00000454412.2_Missense_Mutation_p.L2637F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2637	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCATCTGAAGCTCGGAAACTT	0.562000													70	130					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115971716	115971716	+	Silent	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr10:115971716C>T	ENST00000251864.2	+	14	1905	c.1752C>T	c.(1750-1752)atC>atT	p.I584I	TDRD1_ENST00000369281.2_Intron|TDRD1_ENST00000369280.1_Silent_p.I584I|TDRD1_ENST00000369282.1_Silent_p.I584I|TDRD1_ENST00000422662.1_Intron	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	584	Tudor 2.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ACTTTGAAATCCTTAGTTTGA	0.393000													24	77					0	0	1	0	0
P4HA3	283208	broad.mit.edu	37	11	74013568	74013568	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr11:74013568C>T	ENST00000331597.4	-	3	458	c.413G>A	c.(412-414)aGg>aAg	p.R138K	P4HA3_ENST00000427714.2_Missense_Mutation_p.R138K	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	138						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					CATCAGGGCCCTTGCTGCTCC	0.532000													28	24					0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61449612	61449612	+	Silent	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr18:61449612C>T	ENST00000398019.2	+	2	331	c.6C>T	c.(4-6)gcC>gcT	p.A2A	SERPINB7_ENST00000546027.1_Silent_p.A2A|SERPINB7_ENST00000540675.1_Silent_p.A2A|SERPINB7_ENST00000336429.2_Silent_p.A2A	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	2					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TTGCAATGGCCTCCCTTGCTG	0.378000													14	49					0	0	1	0	0
TNFSF14	8740	broad.mit.edu	37	19	6664984	6664984	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:6664984G>A	ENST00000326176.9	-	5	949	c.568C>T	c.(568-570)Cga>Tga	p.R190*	TNFSF14_ENST00000599359.1_Nonsense_Mutation_p.R226*|TNFSF14_ENST00000245912.3_Nonsense_Mutation_p.R190*	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	226					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						TCACGCAGTCGAACCAGGCGT	0.602000													36	61					0	0	1	0	0
DDX3X	1654	broad.mit.edu	37	X	41206171	41206171	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chrX:41206171C>T	ENST00000399959.2	+	15	2530	c.1675C>T	c.(1675-1677)Ctt>Ttt	p.L559F	DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.L543F|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	559	Helicase C-terminal.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TTTGTTGGATCTTCTTGTTGA	0.403000										HNSCC(61;0.18)			44	8					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18684372	18684372	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr7:18684372C>T	ENST00000406451.3	+	9	1132	c.982C>T	c.(982-984)Ccc>Tcc	p.P328S	HDAC9_ENST00000401921.1_Missense_Mutation_p.P287S|HDAC9_ENST00000456174.2_Missense_Mutation_p.P300S|HDAC9_ENST00000441542.2_Missense_Mutation_p.P331S|HDAC9_ENST00000406072.1_Missense_Mutation_p.P315S|HDAC9_ENST00000524023.1_Missense_Mutation_p.P251S|HDAC9_ENST00000405010.3_Missense_Mutation_p.P328S|HDAC9_ENST00000417496.2_Missense_Mutation_p.P326S|HDAC9_ENST00000432645.2_Missense_Mutation_p.P328S|HDAC9_ENST00000428307.2_Missense_Mutation_p.P284S	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	328	Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TCCTTCTTTGCCCAACATTAC	0.433000													13	18					0	0	1	0	0
BCAT2	587	broad.mit.edu	37	19	49303477	49303477	+	Silent	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:49303477C>T	ENST00000402551.1	-	5	878	c.258G>A	c.(256-258)cgG>cgA	p.R86R	BCAT2_ENST00000597011.1_Silent_p.R86R|BCAT2_ENST00000316273.6_Silent_p.R126R|BCAT2_ENST00000545387.2_Silent_p.R34R|BCAT2_ENST00000599246.1_Silent_p.R34R|BCAT2_ENST00000598162.1_Silent_p.R126R			O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	126						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	AGCGCAGCATCCGGTCCATGT	0.692000													15	27					0	0	1	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11870760	11870760	+	Silent	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr16:11870760G>A	ENST00000396516.2	-	4	509	c.312C>T	c.(310-312)ttC>ttT	p.F104F	ZC3H7A_ENST00000575170.1_5'UTR|ZC3H7A_ENST00000355758.4_Silent_p.F104F			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	104						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						CTTTATCATGGAAACCCTGGT	0.373000													11	25					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518106	113518106	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr7:113518106A>G	ENST00000284601.3	-	4	3109	c.3041T>C	c.(3040-3042)aTc>aCc	p.I1014T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1014					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AGGTTTGTTGATTAAAATCAT	0.383000													84	111					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135012112	135012112	+	Silent	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr10:135012112C>T	ENST00000304613.3	+	14	2121	c.2100C>T	c.(2098-2100)tcC>tcT	p.S700S	KNDC1_ENST00000368571.2_Silent_p.S635S|KNDC1_ENST00000368572.2_Silent_p.S700S			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	700					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGGAGGAGTCCGAGGAGAGGG	0.721000													5	3					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327581	57327581	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:57327581A>C	ENST00000326441.9	-	10	2592	c.2229T>G	c.(2227-2229)agT>agG	p.S743R	PEG3_ENST00000598410.1_Missense_Mutation_p.S619R|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.S743R|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.S617R	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	743					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CGTCCTCATCACTTTCAAGAG	0.413000													66	128					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082677	152082677	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:152082677C>T	ENST00000368804.1	-	2	3015	c.3016G>A	c.(3016-3018)Gag>Aag	p.E1006K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1006	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tcccgttcctctctcagcagc	0.587000													146	233					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844885	18844885	+	RNA	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr22:18844885G>A	ENST00000412938.1	+	0	3135																											GCAGCTCACGGAAATACAGCT	0.587000													3	26					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46619172	46619172	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr13:46619172C>T	ENST00000242848.4	-	3	493	c.145G>A	c.(145-147)Ggc>Agc	p.G49S	ZC3H13_ENST00000282007.3_Missense_Mutation_p.G49S			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	49							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		AGGCAGTTGCCAGTCTTCAGC	0.378000													63	45					0	0	1	0	0
C2orf15	150590	broad.mit.edu	37	2	99767217	99767217	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr2:99767217G>A	ENST00000302513.2	+	4	934	c.298G>A	c.(298-300)Gga>Aga	p.G100R	TSGA10_ENST00000393483.3_Intron|C2orf15_ENST00000409684.1_Missense_Mutation_p.G100R	NM_144706.2	NP_653307.1	Q8WU43	CB015_HUMAN	chromosome 2 open reading frame 15	100										autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(1)	6						GACTGGCACAGGATCTCTTTC	0.393000													29	72					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659838	24659838	+	RNA	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr22:24659838G>A	ENST00000414583.2	+	0	3363					NR_003714.1																						GGACGGTGACGAAGGTACCCA	0.587000													2	1					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654698	46654698	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr22:46654698G>A	ENST00000253255.5	-	1	4521	c.4522C>T	c.(4522-4524)Ctt>Ttt	p.L1508F		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1508					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GCCTTTGGAAGCCTGGGCTTT	0.502000													84	136					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22820516	22820516	+	RNA	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr4:22820516C>T	ENST00000508264.1	+	0	338				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA			Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCAAGATCATCCGAAACAATG	0.483000													14	21					0	0	1	0	0
ROGDI	79641	broad.mit.edu	37	16	4851318	4851318	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr16:4851318C>T	ENST00000322048.7	-	4	583	c.205G>A	c.(205-207)Gac>Aac	p.D69N	ROGDI_ENST00000586336.1_Intron	NM_024589.2	NP_078865.1	Q9GZN7	ROGDI_HUMAN	rogdi homolog (Drosophila)	69						intracellular				endometrium(2)|lung(1)|ovary(1)|skin(1)	5						TTCACCTGGTCTGTGCTGTAA	0.677000													10	14					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12661435	12661435	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr17:12661435C>A	ENST00000425538.1	+	12	2436	c.2236C>A	c.(2236-2238)Cca>Aca	p.P746T	MYOCD_ENST00000343344.4_Missense_Mutation_p.P698T|MYOCD_ENST00000395988.1_Missense_Mutation_p.P650T	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	698					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TAAGGTGGGGCCAAAGTTTTC	0.398000													32	61					2.08457e-15	2.11224e-15	1	1	0
CMIP	80790	broad.mit.edu	37	16	81479080	81479080	+	Silent	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr16:81479080G>A	ENST00000537098.3	+	1	306	c.234G>A	c.(232-234)tcG>tcA	p.S78S		NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	44	PH.					cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						TCCTCACCTCGAAATTCCTGA	0.632000													2	2					0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45292330	45292330	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:45292330C>T	ENST00000447098.2	-	18	2817	c.2806G>A	c.(2806-2808)Gag>Aag	p.E936K	PTCH2_ENST00000372192.3_Missense_Mutation_p.E936K	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	936					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TGGCCGGCCTCTGCGCATGCT	0.672000									Basal Cell Nevus syndrome				12	3					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55933861	55933861	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr6:55933861C>A	ENST00000244728.5	-	22	2471	c.2074G>T	c.(2074-2076)Ggg>Tgg	p.G692W	COL21A1_ENST00000370819.1_Missense_Mutation_p.G689W|COL21A1_ENST00000535941.1_Missense_Mutation_p.G692W|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Missense_Mutation_p.G92W	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	692	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCTTGAATCCCGGGTAAACCC	0.408000													7	17					0.000157383	0.00015877	1	1	0
TTLL12	23170	broad.mit.edu	37	22	43570232	43570232	+	Silent	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr22:43570232G>A	ENST00000216129.6	-	8	1275	c.1212C>T	c.(1210-1212)ttC>ttT	p.F404F		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	404	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CCCGCTGCTGGAAGTAGCTGA	0.667000													49	87					0	0	1	0	0
DAOA	267012	broad.mit.edu	37	13	106142351	106142351	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr13:106142351G>A	ENST00000329625.5	+	4	448	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	DAOA_ENST00000375936.3_Missense_Mutation_p.R128Q|DAOA-AS1_ENST00000448407.1_RNA			P59103	DAOA_HUMAN	D-amino acid oxidase activator	128						Golgi apparatus				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					cctctagaacgaatgtggacc	0.458000													11	23					0	0	1	0	0
RPS27A	6233	broad.mit.edu	37	2	55462591	55462591	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr2:55462591C>A	ENST00000272317.6	+	6	673	c.349C>A	c.(349-351)Ctt>Att	p.L117I	RPS27A_ENST00000404735.1_Missense_Mutation_p.L117I|RPS27A_ENST00000402285.3_Missense_Mutation_p.L117I	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN	ribosomal protein S27a	117					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|endocrine pancreas development|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|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome			cervix(1)|ovary(1)|urinary_tract(1)	3						AATTAGTCGCCTTCGTCGAGA	0.393000													66	103					1.25706e-45	1.29088e-45	1	1	0
SLC15A2	6565	broad.mit.edu	37	3	121648188	121648188	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr3:121648188A>G	ENST00000489711.1	+	17	1934	c.1546A>G	c.(1546-1548)Acc>Gcc	p.T516A	SLC15A2_ENST00000465060.1_3'UTR|SLC15A2_ENST00000295605.2_Missense_Mutation_p.T485A	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	516					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TGGGATGACAACCGTGAGGTT	0.393000													47	77					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	10973627	10973627	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr5:10973627G>A	ENST00000304623.8	-	22	3805	c.3616C>T	c.(3616-3618)Ccc>Tcc	p.P1206S	CTNND2_ENST00000511377.1_Missense_Mutation_p.P1115S|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.P869S|CTNND2_ENST00000359640.2_Missense_Mutation_p.P1148S|CTNND2_ENST00000458100.2_Missense_Mutation_p.P773S	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1206					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCACTGTAGGGACGGGCAGCT	0.622000													18	41					0	0	1	0	0
LHX9	56956	broad.mit.edu	37	1	197890739	197890739	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:197890739G>A	ENST00000367390.3	+	4	683	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	LHX9_ENST00000337020.2_Missense_Mutation_p.R228Q|LHX9_ENST00000367391.1_Missense_Mutation_p.R219Q|LHX9_ENST00000561173.1_Missense_Mutation_p.R234Q|LHX9_ENST00000367387.4_Missense_Mutation_p.R228Q	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	228					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						GGGCGGCCCCGGAAGCGGAAG	0.657000													12	26					0	0	1	0	0
THRA	7067	broad.mit.edu	37	17	38243024	38243024	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr17:38243024C>T	ENST00000450525.2	+	7	1132	c.641C>T	c.(640-642)gCc>gTc	p.A214V	THRA_ENST00000394121.4_Missense_Mutation_p.A214V|THRA_ENST00000546243.1_Missense_Mutation_p.A214V|THRA_ENST00000584985.1_Missense_Mutation_p.A214V|THRA_ENST00000264637.4_Missense_Mutation_p.A214V	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	214	Ligand-binding.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	GACCTGGAAGCCTTCAGCGAG	0.582000											OREG0024390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	32					0	0	1	0	0
ZG16B	124220	broad.mit.edu	37	16	2882082	2882082	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr16:2882082G>A	ENST00000382280.3	+	4	628	c.549G>A	c.(547-549)tgG>tgA	p.W183*	ZG16B_ENST00000572863.1_Nonsense_Mutation_p.W153*	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	183						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						GCTTTGAATGGAATTATCCAC	0.557000													45	61					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166996110	166996110	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr4:166996110C>T	ENST00000061240.2	+	17	2916	c.2269C>T	c.(2269-2271)Cgt>Tgt	p.R757C	TLL1_ENST00000507499.1_Missense_Mutation_p.R780C	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	757	EGF-like 2; calcium-binding (Potential).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R757C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GTGTCAATGCCGTAATGGATT	0.408000													65	99					0	0	1	0	0
ZNF600	162966	broad.mit.edu	37	19	53269883	53269883	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:53269883G>A	ENST00000338230.3	-	3	1393	c.1126C>T	c.(1126-1128)Cat>Tat	p.H376Y		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AGTCTATGATGGCATACAAGG	0.408000													84	145					0	0	1	0	0
TINAGL1	64129	broad.mit.edu	37	1	32042809	32042809	+	Silent	SNP	G	G	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:32042809G>T	ENST00000271064.7	+	2	136	c.60G>T	c.(58-60)ctG>ctT	p.L20L	TINAGL1_ENST00000457433.2_Silent_p.L20L|TINAGL1_ENST00000441210.2_Silent_p.L20L|TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000537531.1_Silent_p.L20L	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	20					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		ACTTGGCTCTGGGTGCCCAGC	0.706000													10	5					0.00829132	0.00829132	1	1	0
PUS10	150962	broad.mit.edu	37	2	61192596	61192596	+	Silent	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr2:61192596G>A	ENST00000316752.6	-	7	900	c.639C>T	c.(637-639)gtC>gtT	p.V213V	PUS10_ENST00000407787.1_Silent_p.V213V	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	213					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			GGTGAGCAAAGACCACACTCA	0.333000													68	97					0	0	1	0	0
MEF2B	100271849	broad.mit.edu	37	19	19261526	19261526	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:19261526G>A	ENST00000602424.2	-	4	745	c.19C>T	c.(19-21)Cag>Tag	p.Q7*	MEF2B_ENST00000409447.2_Nonsense_Mutation_p.Q7*|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000410050.1_Nonsense_Mutation_p.Q7*|MEF2B_ENST00000409224.1_Nonsense_Mutation_p.Q7*|MEF2B_ENST00000424583.2_Nonsense_Mutation_p.Q7*|MEF2BNB-MEF2B_ENST00000444486.3_Nonsense_Mutation_p.Q7*|MEF2BNB-MEF2B_ENST00000514819.3_Nonsense_Mutation_p.Q24*|MEF2B_ENST00000162023.5_Nonsense_Mutation_p.Q7*	NM_005919.3	NP_005910.1			myocyte enhancer factor 2B											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			CGGGAGATCTGGATTTTTTTC	0.562000													28	38					0	0	1	0	0
IL36G	56300	broad.mit.edu	37	2	113737702	113737702	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr2:113737702G>A	ENST00000259205.4	+	4	346	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	IL36G_ENST00000376489.2_Missense_Mutation_p.E58K	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	93					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GAAGGTTGGAGAACAGCCCAC	0.378000													9	34					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142185365	142185365	+	Missense_Mutation	SNP	C	C	G			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr3:142185365C>G	ENST00000350721.4	-	40	6819	c.6698G>C	c.(6697-6699)aGt>aCt	p.S2233T	ATR_ENST00000383101.3_Missense_Mutation_p.S2169T|RP11-383G6.3_ENST00000460977.1_RNA	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2233			S -> I (in a lung large cell carcinoma sample; somatic mutation).		cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.S2233I(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGTGGAACTACTTCCATCAAC	0.289000								Other conserved DNA damage response genes					20	30					0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36597001	36597001	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr11:36597001G>A	ENST00000299440.5	+	2	2259	c.2147G>A	c.(2146-2148)cGg>cAg	p.R716Q		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	716					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AAACTTGTGCGGGAAGTGGAA	0.493000									Familial Hemophagocytic Lymphohistiocytosis				34	18					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7608153	7608153	+	Silent	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr10:7608153G>A	ENST00000256861.6	-	13	2445	c.2367C>T	c.(2365-2367)tcC>tcT	p.S789S	ITIH5_ENST00000298441.6_Silent_p.S575S|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000446830.2_Silent_p.S571S	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	789					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TGGCAGACACGGACACCTCCA	0.602000													3	15					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558863	129558863	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr12:129558863C>T	ENST00000422113.2	-	9	3183	c.2857G>A	c.(2857-2859)Gag>Aag	p.E953K	TMEM132D_ENST00000389441.4_Missense_Mutation_p.E491K	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	953						integral to membrane		p.E953*(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCCTGCTCCTCGAAGGGAACC	0.458000													40	84					0	0	1	0	0
BAMBI	25805	broad.mit.edu	37	10	28971193	28971193	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr10:28971193A>C	ENST00000375533.3	+	3	1202	c.646A>C	c.(646-648)Atg>Ctg	p.M216L		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	216					cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						CTTGGAATGCATGGTGCCGGT	0.522000													28	54					0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52609974	52609974	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr18:52609974C>T	ENST00000591504.1	-	3	323	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	CCDC68_ENST00000337363.4_Missense_Mutation_p.E17K|CCDC68_ENST00000432185.1_Missense_Mutation_p.E17K	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	17										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		GAATTATCTTCCATCTTATCC	0.388000													33	52					0	0	1	0	0
PLIN5	440503	broad.mit.edu	37	19	4523719	4523719	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:4523719G>A	ENST00000381848.3	-	8	1293	c.1213C>T	c.(1213-1215)Ccc>Tcc	p.P405S		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	405						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						GCCCAGCGGGGGTCAGGGCCC	0.716000													55	60					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179610476	179610476	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr2:179610476C>T	ENST00000360870.5	-	46	16873	c.16651G>A	c.(16651-16653)Gga>Aga	p.G5551R	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9021	Ig-like 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTAATTTTCCATCTTTGTAC	0.418000													42	83					0	0	1	0	0
PLOD3	8985	broad.mit.edu	37	7	100855889	100855889	+	Silent	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr7:100855889C>T	ENST00000223127.3	-	9	1325	c.927G>A	c.(925-927)ccG>ccA	p.P309P		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	309					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GGGGCAGAAACGGAGTAGGCT	0.617000													20	32					0	0	1	0	0
RPP40	10799	broad.mit.edu	37	6	4995379	4995379	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr6:4995379A>C	ENST00000380051.2	-	8	1069	c.1025T>G	c.(1024-1026)gTg>gGg	p.V342G	RPP40_ENST00000319533.5_Missense_Mutation_p.V319G|RPP40_ENST00000464646.1_Missense_Mutation_p.V282G	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	342					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				ATTAAAAATCACAAAGTTATA	0.358000													40	61					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179642155	179642155	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr2:179642155G>A	ENST00000589042.1	-	26	4861	c.4637C>T	c.(4636-4638)aCt>aTt	p.T1546I	TTN_ENST00000359218.5_Missense_Mutation_p.T1500I|TTN_ENST00000591111.1_Missense_Mutation_p.T1546I|TTN_ENST00000342175.6_Missense_Mutation_p.T1500I|TTN_ENST00000460472.2_Missense_Mutation_p.T1500I|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.T1546I|TTN_ENST00000342992.6_Missense_Mutation_p.T1546I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1546	Ig-like 6.						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)			ACCTTCCACAGTTAAAATCAC	0.378000													14	31					0	0	1	0	0
CSTL1	128817	broad.mit.edu	37	20	23420915	23420915	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr20:23420915G>A	ENST00000347397.1	+	2	257	c.11G>A	c.(10-12)gGa>gAa	p.G4E	CSTL1_ENST00000246020.2_Missense_Mutation_p.G4E|CSTL1_ENST00000472140.1_3'UTR	NM_138283.1	NP_612140.1	Q9H114	CST1L_HUMAN	cystatin-like 1	4						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					ATGGGGATCGGATGCTGGAGA	0.567000													33	50					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19566150	19566150	+	Silent	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr20:19566150C>T	ENST00000328041.6	+	6	771	c.574C>T	c.(574-576)Ctg>Ttg	p.L192L		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	192						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATTCAACATCCTGTGCATCAT	0.537000													55	77					0	0	1	0	0
RNF151	146310	broad.mit.edu	37	16	2018561	2018561	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr16:2018561G>A	ENST00000569714.1	+	4	381	c.373G>A	c.(373-375)Ggg>Agg	p.G125R	RNF151_ENST00000321392.3_Missense_Mutation_p.G124R|RNF151_ENST00000569210.2_3'UTR	NM_174903.4	NP_777563.2	Q2KHN1	RN151_HUMAN	ring finger protein 151	125					cell differentiation|spermatogenesis	cytoplasm|nucleus	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(1)	2						GGTGCCGCGTGGGACCCTGGC	0.711000													3	12					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179454279	179454279	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr2:179454279C>T	ENST00000589042.1	-	304	62397	c.62173G>A	c.(62173-62175)Gaa>Aaa	p.E20725K	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E11785K|TTN_ENST00000591111.1_Missense_Mutation_p.E19084K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E11852K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E11660K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E18157K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19084	Fibronectin type-III 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)			TAGTGAGTTTCTTTAATGCTT	0.433000													43	59					0	0	1	0	0
PYCR2	29920	broad.mit.edu	37	1	226109560	226109560	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:226109560A>T	ENST00000343818.6	-	4	686	c.538T>A	c.(538-540)Tat>Aat	p.Y180N	PYCR2_ENST00000478402.1_5'UTR|RP4-559A3.7_ENST00000432920.2_Intron	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	180					proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)|NADH(DB00157)	GGCCTCACATAGGCAGGCCCG	0.647000													12	17					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149499	34149499	+	Silent	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chrX:34149499C>T	ENST00000346193.3	-	1	948	c.897G>A	c.(895-897)ggG>ggA	p.G299G		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	299										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GACAGAATTTCCCACAAGGGT	0.597000													9	6					0	0	1	0	0
RFPL2	10739	broad.mit.edu	37	22	32586919	32586919	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr22:32586919G>A	ENST00000400236.3	-	5	1912	c.707C>T	c.(706-708)tCc>tTc	p.S236F	RFPL2_ENST00000400237.1_Missense_Mutation_p.S326F|RFPL2_ENST00000248980.4_Missense_Mutation_p.S265F|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248983.4_Missense_Mutation_p.S236F	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	326	B30.2/SPRY.						zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						ATAGACATGGGAACCACTTTC	0.483000													12	30					0	0	1	0	0
CUL3	8452	broad.mit.edu	37	2	225346638	225346638	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr2:225346638G>A	ENST00000264414.4	-	14	2338	c.2000C>T	c.(1999-2001)tCc>tTc	p.S667F	CUL3_ENST00000409096.1_Missense_Mutation_p.S643F|CUL3_ENST00000344951.4_Missense_Mutation_p.S601F|CUL3_ENST00000409777.1_Missense_Mutation_p.S643F	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	667					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GTGTAGTTTGGATGTGAATTG	0.308000													37	58					0	0	1	0	0
UNC80	285175	broad.mit.edu	37	2	210640756	210640756	+	Silent	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr2:210640756C>T	ENST00000439458.1	+	3	365	c.285C>T	c.(283-285)aaC>aaT	p.N95N	UNC80_ENST00000272845.5_Silent_p.N95N|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	95						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						TGCTTTCAAACCGAAACAAGC	0.478000													57	71					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27228284	27228284	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr9:27228284G>T	ENST00000380036.4	+	22	3723	c.3281G>T	c.(3280-3282)aGa>aTa	p.R1094I	TEK_ENST00000519097.1_Missense_Mutation_p.R946I|TEK_ENST00000406359.4_Missense_Mutation_p.R1051I	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1094	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TCCTTAAACAGAATGTTAGAG	0.398000													37	15					4.62619e-21	4.72945e-21	1	1	0
DDX60L	91351	broad.mit.edu	37	4	169327845	169327845	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr4:169327845C>T	ENST00000511577.1	-	23	3239	c.2992G>A	c.(2992-2994)Gga>Aga	p.G998R	DDX60L_ENST00000505890.1_Missense_Mutation_p.G998R|DDX60L_ENST00000260184.7_Missense_Mutation_p.G998R			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	998							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GGTGGGAATCCATACTTTTCA	0.363000													10	11					0	0	1	0	0
B3GALT5	10317	broad.mit.edu	37	21	41032753	41032753	+	Silent	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr21:41032753G>A	ENST00000380620.3	+	5	859	c.267G>A	c.(265-267)aaG>aaA	p.K89K	AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000398714.2_Silent_p.K89K|B3GALT5_ENST00000343118.4_Silent_p.K89K|B3GALT5_ENST00000380618.1_Silent_p.K89K			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	89					protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TGAAGGGAAAGCAGCTGAAGA	0.587000													19	26					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47246052	47246052	+	Silent	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr20:47246052G>A	ENST00000371941.3	-	37	4723	c.4701C>T	c.(4699-4701)atC>atT	p.I1567I	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871.2	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1567					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCTCCGAGGAGATGGGGATGA	0.652000													34	48					0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16360146	16360146	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:16360146C>T	ENST00000375692.1	+	21	2182	c.2054C>T	c.(2053-2055)cCa>cTa	p.P685L	CLCNKA_ENST00000331433.4_Missense_Mutation_p.P686L|CLCNKA_ENST00000420078.1_Missense_Mutation_p.P685L|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.P643L			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	686					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CCGCCAGCTCCAAAGTGAGCC	0.582000													13	21					0	0	1	0	0
URM1	81605	broad.mit.edu	37	9	131151610	131151610	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr9:131151610C>T	ENST00000452446.1	+	4	321	c.259C>T	c.(259-261)Cct>Tct	p.P87S	URM1_ENST00000372853.4_Intron|URM1_ENST00000372850.1_3'UTR|URM1_ENST00000483206.1_3'UTR	NM_001135947.2	NP_001129419.1	Q9BTM9	URM1_HUMAN	ubiquitin related modifier 1	0					tRNA thio-modification|tRNA wobble uridine modification		protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	5						GGGGGACATCCCTCCCCCAGC	0.602000													19	39					0	0	1	0	0
NIPAL1	152519	broad.mit.edu	37	4	48018892	48018892	+	Silent	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr4:48018892C>T	ENST00000295461.5	+	1	102	c.36C>T	c.(34-36)ccC>ccT	p.P12P	NIPAL1_ENST00000508180.1_Intron	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	12						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						CCGGAGAGCCCTGCCGAGAAG	0.706000													2	4					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43590091	43590091	+	Silent	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr7:43590091G>A	ENST00000395891.1	+	27	4901	c.4296G>A	c.(4294-4296)acG>acA	p.T1432T	HECW1_ENST00000453890.1_Silent_p.T1398T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1432	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CACAGGTGACGGAGAAAAACA	0.547000													14	11					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			181	49					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158817535	158817535	+	Silent	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:158817535G>A	ENST00000368141.4	+	6	1266	c.1005G>A	c.(1003-1005)aaG>aaA	p.K335K		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	335	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.K335N(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TACACAAGAAGAACACAATTT	0.363000													69	121					0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67327453	67327453	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr16:67327453C>T	ENST00000304372.5	-	12	2267	c.2212G>A	c.(2212-2214)Gag>Aag	p.E738K		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	738						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TCACCTCTCTCCTTGGTCCTC	0.517000													27	27					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159660580	159660580	+	Silent	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr6:159660580C>T	ENST00000297267.9	+	14	4412	c.4212C>T	c.(4210-4212)gaC>gaT	p.D1404D	FNDC1_ENST00000340366.6_Silent_p.D1341D	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1404						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGAGTCCTGACGGCCTCCCAC	0.512000													6	6					0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109519148	109519148	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr12:109519148C>T	ENST00000257548.5	+	8	823	c.730C>T	c.(730-732)Cga>Tga	p.R244*	USP30_ENST00000392784.2_Nonsense_Mutation_p.R213*	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	244					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						GAGTCCTGTTCGATTTGATAC	0.343000													44	91					0	0	1	0	0
MAGEA5	4104	broad.mit.edu	37	X	151283718	151283718	+	RNA	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chrX:151283718G>A	ENST00000509345.2	-	0	618																											TCTGGGTCAGGGGAGGTGCTT	0.532000													47	14					0	0	1	0	0
CMIP	80790	broad.mit.edu	37	16	81730263	81730263	+	Silent	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr16:81730263C>T	ENST00000537098.3	+	14	1701	c.1629C>T	c.(1627-1629)ttC>ttT	p.F543F	CMIP_ENST00000398040.4_Silent_p.F390F|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Silent_p.F449F	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	509						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						GGGAGCTGTTCGCCAGCATGG	0.657000													8	6					0	0	1	0	0
STX11	8676	broad.mit.edu	37	6	144507793	144507793	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr6:144507793A>G	ENST00000367568.4	+	2	212	c.29A>G	c.(28-30)gAc>gGc	p.D10G		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	10					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GAACTTCTGGACTTGTCCAAG	0.473000									Familial Hemophagocytic Lymphohistiocytosis				20	46					0	0	1	0	0
GATAD2B	57459	broad.mit.edu	37	1	153788863	153788863	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:153788863G>A	ENST00000368655.4	-	7	1345	c.1102C>T	c.(1102-1104)Cca>Tca	p.P368S		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	368	CR2.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTAGGGGGTGGGATCTCCAGG	0.527000													49	74					0	0	1	0	0
KRT12	3859	broad.mit.edu	37	17	39023373	39023373	+	Silent	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr17:39023373G>A	ENST00000251643.4	-	1	89	c.66C>T	c.(64-66)tcC>tcT	p.S22S		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	22	Head.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				CACTCTGCGAGGAGAGCCGCC	0.602000													14	33					0	0	1	0	0
HGS	9146	broad.mit.edu	37	17	79663917	79663917	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr17:79663917A>T	ENST00000329138.4	+	18	1906	c.1771A>T	c.(1771-1773)Agc>Tgc	p.S591C		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	591	Gln-rich.|Interaction with NF2.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CAGCTTCCCCAGCACCTTCAG	0.687000													23	50					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214817949	214817949	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:214817949C>T	ENST00000366955.3	+	13	5204	c.5036C>T	c.(5035-5037)tCa>tTa	p.S1679L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1775					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAACATACTTCAGAAACTACA	0.338000													21	62					0	0	1	0	0
SMAD1	4086	broad.mit.edu	37	4	146475004	146475004	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr4:146475004C>T	ENST00000515385.1	+	6	1608	c.1066C>T	c.(1066-1068)Caa>Taa	p.Q356*	SMAD1_ENST00000302085.4_Nonsense_Mutation_p.Q356*|SMAD1_ENST00000394092.2_Nonsense_Mutation_p.Q356*			Q15797	SMAD1_HUMAN	SMAD family member 1	356	MH2.				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					CATCTTTGTGCAAAGTCGGAA	0.398000													51	94					0	0	1	0	0
MED23	9439	broad.mit.edu	37	6	131940974	131940974	+	Silent	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr6:131940974G>A	ENST00000403834.3	-	8	833	c.660C>T	c.(658-660)tcC>tcT	p.S220S	MED23_ENST00000368060.3_Silent_p.S220S|MED23_ENST00000368058.1_Silent_p.S220S|MED23_ENST00000354577.4_Silent_p.S220S|MED23_ENST00000540546.1_Silent_p.S220S|MED23_ENST00000539158.1_Silent_p.S220S|MED23_ENST00000368053.4_Silent_p.S220S|MED23_ENST00000368068.3_Silent_p.S220S			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	220					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TACCACAAATGGAGTTTATCC	0.348000													15	49					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38987102	38987102	+	Silent	SNP	C	C	T	rs143102497		TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:38987102C>T	ENST00000355481.4	+	41	6848	c.6717C>T	c.(6715-6717)ttC>ttT	p.F2239F	RYR1_ENST00000360985.3_Silent_p.F2239F|RYR1_ENST00000359596.3_Silent_p.F2239F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2239	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)	TCTGCTATTTCTGCCGAATCA	0.632000													32	33					0	0	1	0	0
ARHGDIB	397	broad.mit.edu	37	12	15102800	15102800	+	Silent	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr12:15102800G>A	ENST00000228945.4	-	3	345	c.201C>T	c.(199-201)gtC>gtT	p.V67V	ARHGDIB_ENST00000541546.1_Silent_p.V67V|ARHGDIB_ENST00000541644.1_Silent_p.V67V	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	67					actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						GGGTGACAACGACATTGGGGG	0.512000													25	63					0	0	1	0	0
ZNF280B	140883	broad.mit.edu	37	22	22843138	22843138	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr22:22843138C>T	ENST00000360412.2	-	4	1361	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	ZNF280B_ENST00000406426.1_Missense_Mutation_p.E196K	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GAATTTCCTTCTATAATTCCA	0.378000													69	97					0	0	1	0	0
PVR	5817	broad.mit.edu	37	19	45150785	45150785	+	Silent	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:45150785C>T	ENST00000425690.3	+	2	669	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L	CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000403059.4_Silent_p.L124L|PVR_ENST00000406449.4_Silent_p.L124L|PVR_ENST00000344956.4_Silent_p.L124L	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	124	Ig-like V-type.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CTACACCTGCCTGTTCGTCAC	0.607000													6	6					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84531720	84531720	+	RNA	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr9:84531720C>T	ENST00000527857.1	+	0	1742					NR_026851.1																						CGCCTCAAACCCTGCCCAGAG	0.507000													29	41					0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56097970	56097970	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr2:56097970G>A	ENST00000394555.2	-	10	1640	c.1205C>T	c.(1204-1206)tCt>tTt	p.S402F	EFEMP1_ENST00000394554.1_Missense_Mutation_p.S402F|EFEMP1_ENST00000355426.3_Missense_Mutation_p.S402F|EFEMP1_ENST00000424836.2_Missense_Mutation_p.S264F	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	402	Mediates interaction with TIMP3.				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)			AGACCTATCAGATCGGATGCT	0.433000													33	57					0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184069861	184069861	+	Silent	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr3:184069861G>A	ENST00000265593.4	-	22	2526	c.2355C>T	c.(2353-2355)ttC>ttT	p.F785F	CLCN2_ENST00000434054.2_Silent_p.F741F|CLCN2_ENST00000457512.1_Silent_p.F785F|CLCN2_ENST00000423355.2_3'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Silent_p.F768F	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	785						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TGCAGTCACTGAAGTTGACAG	0.557000													59	90					0	0	1	0	0
OCIAD2	132299	broad.mit.edu	37	4	48887541	48887541	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr4:48887541C>T	ENST00000508632.1	-	7	657	c.425G>A	c.(424-426)gGa>gAa	p.G142E	OCIAD2_ENST00000273860.4_3'UTR|OCIAD2_ENST00000508069.2_5'UTR	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2	142						endosome				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						CTCACTTAATCCATGCTTTAT	0.398000													73	126					0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97854188	97854188	+	Missense_Mutation	SNP	G	G	C			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr7:97854188G>C	ENST00000447648.2	-	19	2914	c.2615C>G	c.(2614-2616)tCc>tGc	p.S872C	TECPR1_ENST00000479975.1_5'UTR|TECPR1_ENST00000379795.3_Missense_Mutation_p.S874C			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	872						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAACCAGTCGGAAACCTGGGA	0.642000													2	0					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179701691	179701691	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr2:179701691T>G	ENST00000420890.2	-	23	4372	c.4255A>C	c.(4255-4257)Act>Cct	p.T1419P	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.T844P	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	844							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCCATGACAGTTACATTAGAC	0.458000													24	40					0	0	1	0	0
BACE2	25825	broad.mit.edu	37	21	42629153	42629153	+	Silent	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr21:42629153C>T	ENST00000330333.6	+	8	1666	c.1203C>T	c.(1201-1203)tcC>tcT	p.S401S	BACE2_ENST00000347667.4_Silent_p.S351S|BACE2_ENST00000328735.6_Intron|BACE2_ENST00000466122.1_3'UTR	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	401					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				TTTCCCCATCCACAAATGCGC	0.552000													25	8					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325494	31325494	+	Silent	SNP	C	C	G			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr18:31325494C>G	ENST00000269197.5	+	12	5682	c.5682C>G	c.(5680-5682)gtC>gtG	p.V1894V		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1894					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.V1894V(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCCCTGAGGTCAAACAGCAAA	0.507000													72	90					0	0	1	0	0
CLEC10A	10462	broad.mit.edu	37	17	6978704	6978704	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr17:6978704C>T	ENST00000254868.4	-	8	1085	c.757G>A	c.(757-759)Gga>Aga	p.G253R	CLEC10A_ENST00000571664.1_Missense_Mutation_p.G229R|CLEC10A_ENST00000416562.2_Missense_Mutation_p.G226R|CLEC10A_ENST00000576617.1_3'UTR	NM_182906.2	NP_878910.1	Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	253	C-type lectin.				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						TAGTCTGTTCCATCCACCCAC	0.572000													20	44					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10364025	10364025	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:10364025C>T	ENST00000377093.4	+	21	2935	c.2782C>T	c.(2782-2784)Cgg>Tgg	p.R928W	KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.R928W|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377086.1_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGAGCAAATTCGGTTTAAGAA	0.502000													54	16					0	0	1	0	0
ASPHD1	253982	broad.mit.edu	37	16	29912928	29912928	+	Silent	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr16:29912928C>T	ENST00000308748.5	+	1	888	c.636C>T	c.(634-636)ctC>ctT	p.L212L	ASPHD1_ENST00000483405.1_5'UTR	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	212					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						ACGTGGAGCTCCTGGAGAGCA	0.662000													26	44					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183720886	183720886	+	Silent	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr4:183720886G>A	ENST00000511685.1	+	28	7605	c.7482G>A	c.(7480-7482)tcG>tcA	p.S2494S	TENM3_ENST00000406950.2_Silent_p.S2494S					teneurin transmembrane protein 3																		CGGTCAAGTCGCTGATCGGCA	0.692000													2	3					0	0	1	0	0
SLC47A1	55244	broad.mit.edu	37	17	19445774	19445774	+	Translation_Start_Site	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr17:19445774G>A	ENST00000571335.1	+	0	179				SLC47A1_ENST00000575023.1_Silent_p.K68K|SLC47A1_ENST00000457293.1_Silent_p.K68K|SLC47A1_ENST00000395585.1_Silent_p.K68K|SLC47A1_ENST00000270570.4_Silent_p.K68K|SLC47A1_ENST00000542886.1_Silent_p.K68K|SLC47A1_ENST00000436810.2_Silent_p.K68K|SLC47A1_ENST00000584348.1_3'UTR			Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1							integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					ACCTGGGCAAGCTGGAGCTGG	0.542000													25	49					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142640576	142640576	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr7:142640576G>A	ENST00000355265.2	-	15	2174	c.1700C>T	c.(1699-1701)cCc>cTc	p.P567L		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	567					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCCATACCTGGGATAGCCAGG	0.532000													14	22					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140724284	140724284	+	Silent	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr5:140724284C>T	ENST00000253812.6	+	1	684	c.684C>T	c.(682-684)atC>atT	p.I228I	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTGCACATCCAAGTGATAG	0.547000													20	9					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138584591	138584591	+	Silent	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr6:138584591C>T	ENST00000251691.4	+	12	2137	c.1971C>T	c.(1969-1971)gcC>gcT	p.A657A		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	657	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GAACTGCCGCCCTGTCTCTAA	0.607000													33	40					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641439	57641439	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:57641439C>T	ENST00000254181.4	+	4	1850	c.1396C>T	c.(1396-1398)Cct>Tct	p.P466S	USP29_ENST00000598197.1_Missense_Mutation_p.P466S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	466					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAAACCACTTCCTTTGTCCAT	0.383000													66	112					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56544122	56544122	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:56544122C>T	ENST00000390649.3	+	8	2422	c.2422C>T	c.(2422-2424)Ccc>Tcc	p.P808S		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	808						mitochondrion|nucleolus	ATP binding	p.P808T(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCTGAGGCATCCCACCTGCAA	0.617000													19	58					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75039086	75039086	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:75039086C>T	ENST00000326665.5	-	14	2526	c.2308G>A	c.(2308-2310)Gag>Aag	p.E770K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	770	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTTTCTTCTCCAGTGTATAC	0.458000													72	24					0	0	1	0	0
WDR43	23160	broad.mit.edu	37	2	29152564	29152564	+	Silent	SNP	T	T	C			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr2:29152564T>C	ENST00000407426.3	+	11	1481	c.1425T>C	c.(1423-1425)ttT>ttC	p.F475F		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	475						nucleolus				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					GTAACGATTTTGAAATGCTAA	0.348000													19	45					0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687068	68687068	+	Missense_Mutation	SNP	G	G	C			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr10:68687068G>C	ENST00000361320.4	+	2	972	c.394G>C	c.(394-396)Gtg>Ctg	p.V132L	CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	132						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CTTCAGACCTGTGACAAATTT	0.398000													44	106					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79985430	79985430	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr9:79985430C>T	ENST00000360280.3	+	65	9103	c.8843C>T	c.(8842-8844)gCc>gTc	p.A2948V	VPS13A_ENST00000376634.4_Missense_Mutation_p.A2948V|VPS13A_ENST00000376636.3_Missense_Mutation_p.A2909V|VPS13A_ENST00000357409.5_Missense_Mutation_p.A2948V	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2948					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGAAGAGAAGCCATGAATAAG	0.468000													32	61					0	0	1	0	0
MIR223	407008	broad.mit.edu	37	X	65238757	65238757	+	RNA	SNP	T	T	C			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chrX:65238757T>C	ENST00000385204.1	+	0	46					NR_029637.1																						ACAAGCTGAGTTGGACACTCC	0.542000													8	1					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	31010032	31010032	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr2:31010032C>T	ENST00000295055.8	-	2	336	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	CAPN13_ENST00000534090.2_Missense_Mutation_p.E54K|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	54	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AGGCGTTTTTCCTGGAGCAGC	0.577000													3	8					0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1551737	1551737	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr16:1551737C>T	ENST00000262319.6	+	11	1714	c.1435C>T	c.(1435-1437)Caa>Taa	p.Q479*	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	479						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CGGCGTCCCCCAAGCACAGCT	0.652000													19	28					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53071640	53071640	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr8:53071640G>A	ENST00000276480.7	-	15	2307	c.1624C>T	c.(1624-1626)Cct>Tct	p.P542S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	542						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGTCGATTAGGAAATTTCACT	0.438000													120	60					0	0	1	0	0
HSD17B7	51478	broad.mit.edu	37	1	162773287	162773287	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:162773287C>T	ENST00000254521.3	+	6	764	c.709C>T	c.(709-711)Ccg>Tcg	p.P237S	HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367917.3_Intron	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	237					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)				NADH(DB00157)	AATTCTGCCTCCGTTTATATG	0.398000													64	77					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885517	24885517	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr14:24885517G>A	ENST00000382554.3	+	9	4880	c.4562G>A	c.(4561-4563)gGc>gAc	p.G1521D		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1521					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AAGGAGAGTGGCCTGCTTATG	0.552000													8	4					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159646711	159646711	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr6:159646711T>A	ENST00000297267.9	+	8	1229	c.1029T>A	c.(1027-1029)gaT>gaA	p.D343E	FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.D343E	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	343	Fibronectin type-III 3.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GTGAAAGAGATGGCAAATGGA	0.413000													38	51					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105811271	105811271	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr10:105811271G>A	ENST00000353479.5	-	25	2296	c.2006C>T	c.(2005-2007)tCc>tTc	p.S669F	COL17A1_ENST00000369733.3_Missense_Mutation_p.S669F	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	669	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGAGCCGCTGGAACCTGAGAA	0.567000													6	16					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157516924	157516924	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:157516924C>T	ENST00000361835.3	-	3	273	c.116G>A	c.(115-117)aGa>aAa	p.R39K	FCRL5_ENST00000368189.3_Missense_Mutation_p.R39K|FCRL5_ENST00000356953.4_Missense_Mutation_p.R39K|FCRL5_ENST00000368190.3_Missense_Mutation_p.R39K|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368188.2_Missense_Mutation_p.R39K	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	39	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GAGGGTCACTCTCTCTCCTTG	0.493000													78	115					0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121354627	121354627	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr3:121354627C>T	ENST00000314583.3	-	9	737	c.646G>A	c.(646-648)Gag>Aag	p.E216K	HCLS1_ENST00000428394.2_Missense_Mutation_p.E179K|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	216					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		GTCGGGGCCTCCATTTCATTG	0.547000													35	57					0	0	1	0	0
PNMA2	10687	broad.mit.edu	37	8	26365392	26365392	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr8:26365392G>A	ENST00000522362.2	-	3	1774	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	294					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		tgctccaggcggacctggtcc	0.622000													16	8					0	0	1	0	0
EIF3D	8664	broad.mit.edu	37	22	36913424	36913424	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr22:36913424G>A	ENST00000216190.8	-	10	1284	c.914C>T	c.(913-915)tCc>tTc	p.S305F	EIF3D_ENST00000541106.1_Missense_Mutation_p.S256F|EIF3D_ENST00000405442.1_Missense_Mutation_p.S305F	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3, subunit D	305						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						TGAATTGAAGGAATTACCTTC	0.512000													27	28					0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107763103	107763103	+	Silent	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr8:107763103G>A	ENST00000445937.1	+	16	2736	c.2475G>A	c.(2473-2475)ggG>ggA	p.G825G	OXR1_ENST00000312046.6_Silent_p.G818G|OXR1_ENST00000531443.1_Silent_p.G825G|OXR1_ENST00000297447.6_Silent_p.G222G|OXR1_ENST00000442977.2_Silent_p.G853G|OXR1_ENST00000449762.2_Silent_p.G195G|OXR1_ENST00000517566.2_Silent_p.G852G|OXR1_ENST00000452423.2_Silent_p.G273G|OXR1_ENST00000521592.1_Silent_p.G98G	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	853	TLD.				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAACGTTTGGGAATCGTACAC	0.358000													47	206					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7151399	7151399	+	Silent	SNP	C	C	T	rs146654528	byFrequency	TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:7151399C>T	ENST00000303635.7	+	4	477	c.270C>T	c.(268-270)caC>caT	p.H90H	CAMTA1_ENST00000439411.2_Silent_p.H90H	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TTGAGAAACACGAAGAATGGC	0.358000			T	WWTR1	epitheliod hemangioendothelioma								18	33					0	0	1	0	0
RALYL	138046	broad.mit.edu	37	8	85785593	85785593	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr8:85785593C>T	ENST00000521268.1	+	7	1751	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C	RALYL_ENST00000521376.1_Missense_Mutation_p.R127C|RALYL_ENST00000523850.1_Missense_Mutation_p.R143C|RALYL_ENST00000521695.1_Missense_Mutation_p.R216C|RALYL_ENST00000518566.1_Missense_Mutation_p.R205C|RALYL_ENST00000522455.1_Missense_Mutation_p.R216C|RALYL_ENST00000517638.1_Missense_Mutation_p.R229C	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	216							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CTTGCTAGGGCGCCTGGAGAA	0.423000													4	23					0	0	1	0	0
ELF2	1998	broad.mit.edu	37	4	139981786	139981786	+	Silent	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr4:139981786C>T	ENST00000394235.2	-	9	1315	c.813G>A	c.(811-813)caG>caA	p.Q271Q	ELF2_ENST00000265495.4_Silent_p.Q271Q|ELF2_ENST00000379550.1_Silent_p.Q283Q|ELF2_ENST00000358635.3_Silent_p.Q223Q|ELF2_ENST00000510408.1_Silent_p.Q211Q|ELF2_ENST00000379549.2_Silent_p.Q194Q	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	283					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					ATACAAGCCTCTGTCCTTCAA	0.383000													63	82					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178928317	178928317	+	Silent	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr3:178928317C>T	ENST00000263967.3	+	9	1660	c.1503C>T	c.(1501-1503)tcC>tcT	p.S501S		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	501					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GGTCTGTATCCCGAGAAGCAG	0.413000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			40	68					0	0	1	0	0
PRSS57	400668	broad.mit.edu	37	19	692001	692001	+	Splice_Site	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:692001C>T	ENST00000329267.7	-	3	267	c.236_splice	c.e3-1	p.D80_splice		NM_214710.3	NP_999875.1	Q6UWY2	PRS57_HUMAN	protease, serine, 57	80	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|lung(5)	6						GTGCGGAGGTCTCTGCAGGGA	0.677000													2	7					0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779455	31779455	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr6:31779455C>T	ENST00000375654.4	-	2	484	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	HSPA1L_ENST00000417199.3_Missense_Mutation_p.E99K	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	99					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TTGCCTCCTTCATTAATCACT	0.413000													45	84					0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68560821	68560821	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr11:68560821C>T	ENST00000265641.5	-	9	1083	c.929G>A	c.(928-930)cGg>cAg	p.R310Q	CPT1A_ENST00000376618.2_Missense_Mutation_p.R310Q|CPT1A_ENST00000540367.1_Missense_Mutation_p.R310Q|CPT1A_ENST00000539743.1_Missense_Mutation_p.R310Q|CPT1A_ENST00000538994.1_Missense_Mutation_p.R62Q	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	310					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	ATTAAACATCCGCTCCCACTG	0.473000													4	10					0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25005391	25005391	+	Silent	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr4:25005391G>A	ENST00000382114.4	-	8	1505	c.1320C>T	c.(1318-1320)atC>atT	p.I440I		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	440						extracellular region		p.I440I(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GGGAGTCCCCGATGAAGCGGG	0.537000													128	176					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120852895	120852895	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr11:120852895G>A	ENST00000527524.2	+	20	2763	c.2476G>A	c.(2476-2478)Gag>Aag	p.E826K	GRIK4_ENST00000438375.2_Missense_Mutation_p.E826K			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	826					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)	GGCTATGTTGGAGTTTTTATG	0.423000													78	44					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160145985	160145985	+	Silent	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:160145985C>T	ENST00000368081.4	+	16	2886	c.2415C>T	c.(2413-2415)ccC>ccT	p.P805P	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	805					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCGGTATACCCCTGCCTCTGG	0.512000													128	148					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212798993	212798993	+	Silent	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:212798993C>T	ENST00000294829.3	+	1	1205	c.774C>T	c.(772-774)tcC>tcT	p.S258S	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	258										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TCAATGCATCCATCCCCAAAA	0.552000													84	74					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94054434	94054434	+	Silent	SNP	A	A	G			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr7:94054434A>G	ENST00000297268.6	+	42	3150	c.2679A>G	c.(2677-2679)gaA>gaG	p.E893E		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	893					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TTTAGGGTGAACCTGGTCCTC	0.542000										HNSCC(75;0.22)			11	27					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6498675	6498675	+	Silent	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr10:6498675C>T	ENST00000263125.5	-	15	1707	c.1608G>A	c.(1606-1608)acG>acA	p.T536T	PRKCQ_ENST00000539722.1_Silent_p.T411T|PRKCQ_ENST00000397176.2_Silent_p.T536T	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	536	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						AGAAGGTATTCGTCTTGGCAT	0.507000													19	37					0	0	1	0	0
ACAD11	84129	broad.mit.edu	37	3	132361569	132361569	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr3:132361569A>C	ENST00000264990.6	-	3	1298	c.327T>G	c.(325-327)agT>agG	p.S109R	ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000481970.2_Missense_Mutation_p.S109R|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000355458.3_Missense_Mutation_p.S109R	NM_032169.4	NP_115545.3			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CAGAAGTATCACTGCAGTACA	0.323000													75	107					0	0	1	0	0
SULT2A1	6822	broad.mit.edu	37	19	48377963	48377963	+	Silent	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:48377963G>A	ENST00000222002.3	-	5	835	c.696C>T	c.(694-696)tcC>tcT	p.S232S		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	232					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		CACTCAGGAGGGAATAATTGG	0.393000													36	71					0	0	1	0	0
CSAG1	158511	broad.mit.edu	37	X	151904512	151904512	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chrX:151904512A>G	ENST00000370291.2	+	3	290	c.10A>G	c.(10-12)Act>Gct	p.T4A	CSAG1_ENST00000370287.3_Missense_Mutation_p.T4A|CSAG1_ENST00000452779.2_Missense_Mutation_p.T4A			Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	4										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					AATGTCGGCGACTACAGGTAA	0.358000													4	42					0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6091134	6091134	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr20:6091134G>A	ENST00000217289.4	-	5	1345	c.557C>T	c.(556-558)aCc>aTc	p.T186I	FERMT1_ENST00000536936.1_Intron	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	186	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						AGGGGTCATGGTTTTACTGTA	0.418000													58	75					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53645802	53645802	+	Silent	SNP	A	A	G			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:53645802A>G	ENST00000452676.2	-	5	708	c.282T>C	c.(280-282)tcT>tcC	p.S94S	ZNF347_ENST00000334197.7_Silent_p.S93S|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.S94S	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CAAATTCGGAAGAGAGAGCTA	0.333000													8	16					0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24448150	24448150	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr6:24448150C>T	ENST00000230036.1	-	17	1743	c.1633G>A	c.(1633-1635)Gga>Aga	p.G545R		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	545						extracellular region	glycosylphosphatidylinositol phospholipase D activity	p.G545R(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GCCACAATTCCCTTCTGCTTC	0.552000													18	30					0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52130921	52130921	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:52130921G>A	ENST00000222107.4	-	6	1214	c.1076C>T	c.(1075-1077)cCg>cTg	p.P359L	SIGLEC5_ENST00000570106.2_Missense_Mutation_p.P359L|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.P359L|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.P359L|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.P359L			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	359					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GGAGGGGGCCGGCCGGGCTCG	0.677000													4	9					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826584	43826584	+	Silent	SNP	T	T	G			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr12:43826584T>G	ENST00000389420.3	-	20	2750	c.2751A>C	c.(2749-2751)tcA>tcC	p.S917S	ADAMTS20_ENST00000395541.2_Silent_p.S71S|ADAMTS20_ENST00000553158.1_Silent_p.S917S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	917	TSP type-1 3.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CACATTGGGATGAACATTCAC	0.368000													44	86					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13859564	13859564	+	Silent	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr5:13859564G>A	ENST00000265104.4	-	30	5051	c.4947C>T	c.(4945-4947)ccC>ccT	p.P1649P		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1649	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)					ACAAAACCTTGGGCAGCTGCT	0.408000									Kartagener syndrome				39	61					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105153090	105153090	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chrX:105153090G>T	ENST00000428173.2	+	13	1763	c.1460G>T	c.(1459-1461)aGg>aTg	p.R487M	NRK_ENST00000243300.9_Missense_Mutation_p.R486M			Q7Z2Y5	NRK_HUMAN	Nik related kinase	486	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GCACAGGTTAGGGCACCTAGG	0.537000										HNSCC(51;0.14)			9	10					0.00448238	0.00450204	1	1	0
GPR98	84059	broad.mit.edu	37	5	89971991	89971991	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr5:89971991C>T	ENST00000405460.2	+	25	5504	c.5408C>T	c.(5407-5409)tCt>tTt	p.S1803F	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1803	Calx-beta 12.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTGGAAAAATCTTTTAAAGTT	0.328000													9	5					0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44073845	44073845	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr17:44073845C>T	ENST00000344290.5	+	11	1964	c.1642C>T	c.(1642-1644)Ccg>Tcg	p.P548S	MAPT_ENST00000262410.5_Missense_Mutation_p.P530S|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000535772.1_Missense_Mutation_p.P213S|MAPT_ENST00000446361.3_Missense_Mutation_p.P155S|MAPT_ENST00000431008.3_Missense_Mutation_p.P213S|MAPT_ENST00000576518.1_Missense_Mutation_p.P144S|MAPT_ENST00000420682.2_Missense_Mutation_p.P184S|MAPT_ENST00000574436.1_Missense_Mutation_p.P213S|MAPT_ENST00000351559.5_Missense_Mutation_p.P213S|MAPT_ENST00000347967.5_Missense_Mutation_p.P119S|MAPT_ENST00000334239.8_Missense_Mutation_p.P155S|MAPT_ENST00000415613.2_Missense_Mutation_p.P548S|MAPT_ENST00000571987.1_Missense_Mutation_p.P530S|MAPT_ENST00000340799.5_Missense_Mutation_p.P184S	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	530					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CTCCCGCACCCCGTCCCTTCC	0.677000													14	19					0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14234489	14234489	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr16:14234489C>T	ENST00000571589.1	+	3	198	c.26C>T	c.(25-27)aCc>aTc	p.T9I	MKL2_ENST00000574045.1_Missense_Mutation_p.T9I|MKL2_ENST00000318282.5_Missense_Mutation_p.T9I|MKL2_ENST00000575537.1_3'UTR	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	0					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCGATAGACACCGAGGATGAA	0.502000													17	50					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70082311	70082311	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr6:70082311G>A	ENST00000370598.1	+	30	5074	c.4253G>A	c.(4252-4254)cGa>cAa	p.R1418Q	BAI3_ENST00000546190.1_Missense_Mutation_p.R382Q|BAI3_ENST00000238918.8_Missense_Mutation_p.R624Q	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1418					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGAAAATCACGATATTCAGAC	0.219000													10	9					0	0	1	0	0
PAX6	5080	broad.mit.edu	37	11	31812346	31812346	+	Silent	SNP	A	A	G			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr11:31812346A>G	ENST00000419022.1	-	13	1605	c.1137T>C	c.(1135-1137)aaT>aaC	p.N379N	PAX6_ENST00000379123.5_Silent_p.N365N|PAX6_ENST00000379107.2_Silent_p.N379N|PAX6_ENST00000379111.2_Silent_p.N365N|PAX6_ENST00000379132.3_Silent_p.N365N|PAX6_ENST00000379115.4_Silent_p.N379N|PAX6_ENST00000379129.2_Silent_p.N379N|PAX6_ENST00000241001.8_Silent_p.N365N	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	365	Pro/Ser/Thr-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					AACTCCGCCCATTCACCGAAG	0.582000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				17	6					0	0	1	0	0
VSTM1	284415	broad.mit.edu	37	19	54545045	54545045	+	Silent	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:54545045C>T	ENST00000338372.2	-	8	754	c.579G>A	c.(577-579)agG>agA	p.R193R	VSTM1_ENST00000376626.1_Silent_p.R162R|VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000366170.2_Silent_p.R105R	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	193						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		AGAGAGATACCCTTTCCATAT	0.473000													12	25					0	0	1	0	0
BCAT2	587	broad.mit.edu	37	19	49303478	49303478	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:49303478C>T	ENST00000402551.1	-	5	877	c.257G>A	c.(256-258)cGg>cAg	p.R86Q	BCAT2_ENST00000597011.1_Missense_Mutation_p.R86Q|BCAT2_ENST00000316273.6_Missense_Mutation_p.R126Q|BCAT2_ENST00000545387.2_Missense_Mutation_p.R34Q|BCAT2_ENST00000599246.1_Missense_Mutation_p.R34Q|BCAT2_ENST00000598162.1_Missense_Mutation_p.R126Q			O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	126						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	GCGCAGCATCCGGTCCATGTT	0.697000													15	26					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121929935	121929935	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr9:121929935A>T	ENST00000265922.3	-	8	2174	c.1713T>A	c.(1711-1713)caT>caA	p.H571Q	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		571					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						AGCCCTCCGAATGGCTCCCGC	0.557000													27	39					0	0	1	0	0
APP	351	broad.mit.edu	37	21	27354788	27354788	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr21:27354788G>A	ENST00000358918.3	-	9	1292	c.1093C>T	c.(1093-1095)Cct>Tct	p.P365S	APP_ENST00000354192.3_Missense_Mutation_p.P234S|APP_ENST00000348990.5_Missense_Mutation_p.P290S|APP_ENST00000448388.2_Missense_Mutation_p.P255S|APP_ENST00000346798.3_Missense_Mutation_p.P365S|APP_ENST00000440126.3_Missense_Mutation_p.P341S|APP_ENST00000439274.2_Missense_Mutation_p.P309S|APP_ENST00000357903.3_Missense_Mutation_p.P346S|APP_ENST00000359726.3_Missense_Mutation_p.P309S	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	365					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				GCTGTTGTAGGAACTATAAAG	0.418000													14	33					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93822132	93822132	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr11:93822132A>C	ENST00000315765.9	+	12	2300	c.2292A>C	c.(2290-2292)gaA>gaC	p.E764D		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	764	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CAAGAGGGGAAAGGTACCACA	0.527000													14	10					0	0	1	0	0
SLC16A12	387700	broad.mit.edu	37	10	91198622	91198622	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr10:91198622G>A	ENST00000341233.4	-	6	1067	c.677C>T	c.(676-678)tCa>tTa	p.S226L	SLC16A12_ENST00000371790.4_Missense_Mutation_p.S256L	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	226						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						GGTCAAAGATGAATAGGGAGA	0.443000													11	39					0	0	1	0	0
STS	412	broad.mit.edu	37	X	7171267	7171267	+	Silent	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chrX:7171267C>T	ENST00000217961.4	+	2	262	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	14					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	TCCTACTGTTCTTTCTGTGGG	0.512000									Ichthyosis				18	6					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16958063	16958063	+	RNA	SNP	C	C	T	rs2779441	by1000genomes	TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:16958063C>T	ENST00000412962.1	-	0	74																											AGCCCCTCTCCATCCTCTGTC	0.652000													3	7					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599632	179599632	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr2:179599632C>T	ENST00000589042.1	-	51	15243	c.15019G>A	c.(15019-15021)Ggc>Agc	p.G5007S	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G4690S|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G3763S|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4690	Ig-like 30.						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)			ACAGGTGAGCCTTTCAGCTTG	0.418000													6	19					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123176364	123176364	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr4:123176364T>A	ENST00000264501.4	+	40	6677	c.6304T>A	c.(6304-6306)Tca>Aca	p.S2102T	KIAA1109_ENST00000455637.1_Missense_Mutation_p.S2102T|KIAA1109_ENST00000388738.3_Missense_Mutation_p.S2102T			Q2LD37	K1109_HUMAN	KIAA1109	2102					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGAAAATCCTTCATGTTTACT	0.328000													41	77					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155505870	155505870	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr4:155505870C>A	ENST00000302053.3	-	6	2085	c.2007G>T	c.(2005-2007)ttG>ttT	p.L669F		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	669	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GCCATCCTCCCAAACTGGTCT	0.448000													42	65					8.16277e-20	8.30789e-20	1	1	0
TTN	7273	broad.mit.edu	37	2	179485469	179485469	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr2:179485469T>A	ENST00000589042.1	-	247	46092	c.45868A>T	c.(45868-45870)Aaa>Taa	p.K15290*	TTN_ENST00000359218.5_Nonsense_Mutation_p.K6350*|TTN_ENST00000591111.1_Nonsense_Mutation_p.K13649*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.K6417*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.K6225*|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.K12722*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13649	Fibronectin type-III 11.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGCACTTTTAACATTTTCA	0.318000													106	146					0	0	1	0	0
CEACAM3	1084	broad.mit.edu	37	19	42301871	42301871	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:42301871C>T	ENST00000357396.3	+	2	656	c.415C>T	c.(415-417)Cat>Tat	p.H139Y	CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000221999.4_Missense_Mutation_p.H139Y|CEACAM3_ENST00000344550.4_Missense_Mutation_p.H139Y	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	139	Ig-like V-type.					integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						TGGACAGTTCCATGTATACCG	0.488000													120	199					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54893186	54893186	+	Silent	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr12:54893186C>T	ENST00000293373.6	+	2	229	c.150C>T	c.(148-150)tcC>tcT	p.S50S	NCKAP1L_ENST00000545638.2_5'UTR	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	50					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						TGGAAAAGTCCATGGAACCAT	0.413000													36	65					0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19749226	19749226	+	Silent	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:19749226C>T	ENST00000203556.4	-	8	740	c.603G>A	c.(601-603)aaG>aaA	p.K201K	GMIP_ENST00000445806.2_Silent_p.K201K|GMIP_ENST00000587238.1_Silent_p.K201K	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	201					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GCTTCTGCTCCTTCATCCACT	0.602000													10	28					0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107113766	107113766	+	Silent	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr12:107113766G>A	ENST00000392842.1	+	12	1581	c.1167G>A	c.(1165-1167)gaG>gaA	p.E389E	RFX4_ENST00000357881.4_Silent_p.E398E|RFX4_ENST00000229387.5_Silent_p.E295E|RP11-144F15.1_ENST00000551505.1_Intron|RP11-482D24.3_ENST00000552415.1_RNA	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	389	Necessary for dimerization.				transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						ATCTCTTGGAGGAGCAGTCTC	0.493000													26	46					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55933860	55933860	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr6:55933860C>T	ENST00000244728.5	-	22	2472	c.2075G>A	c.(2074-2076)gGg>gAg	p.G692E	COL21A1_ENST00000370819.1_Missense_Mutation_p.G689E|COL21A1_ENST00000535941.1_Missense_Mutation_p.G692E|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Missense_Mutation_p.G92E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	692	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCCTTGAATCCCGGGTAAACC	0.408000													7	17					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	10973626	10973626	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr5:10973626G>A	ENST00000304623.8	-	22	3806	c.3617C>T	c.(3616-3618)cCc>cTc	p.P1206L	CTNND2_ENST00000511377.1_Missense_Mutation_p.P1115L|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.P869L|CTNND2_ENST00000359640.2_Missense_Mutation_p.P1148L|CTNND2_ENST00000458100.2_Missense_Mutation_p.P773L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1206					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTCACTGTAGGGACGGGCAGC	0.617000													18	41					0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7459141	7459141	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr12:7459141C>T	ENST00000399422.4	+	2	262	c.214C>T	c.(214-216)Cca>Tca	p.P72S		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	72					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						AGGGGAGAGACCAGCTAACCC	0.527000													4	9					0	0	1	0	0
GBP2	2634	broad.mit.edu	37	1	89579780	89579780	+	Silent	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:89579780C>T	ENST00000370466.3	-	7	1336	c.1068G>A	c.(1066-1068)agG>agA	p.R356R	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	356					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		TCTCACTGTCCCTGTGCAGGT	0.517000													129	25					0	0	1	0	0
DCST1	149095	broad.mit.edu	37	1	155020646	155020646	+	Splice_Site	SNP	G	G	A	rs143335670		TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:155020646G>A	ENST00000295542.1	+	16	1965	c.1869_splice	c.e16+1	p.P623_splice	DCST1_ENST00000392480.1_Splice_Site_p.P623_splice|DCST1_ENST00000423025.2_Splice_Site_p.P598_splice|DCST1_ENST00000368419.2_Splice_Site_p.P623_splice	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	623						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AGAAGGCTCCGGTAAGTCCAG	0.582000													16	17					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45860723	45860723	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr21:45860723G>A	ENST00000397928.1	+	31	4766	c.4321G>A	c.(4321-4323)Gag>Aag	p.E1441K	TRPM2_ENST00000300481.9_Missense_Mutation_p.E1387K|TRPM2_ENST00000300482.5_Missense_Mutation_p.E1441K|TRPM2_ENST00000397932.2_Missense_Mutation_p.E1491K|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1441	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.E1441K(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGCCTGGATCGAGACGGTGGC	0.622000													50	14					0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117252517	117252517	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr6:117252517C>T	ENST00000332958.2	+	19	2651	c.2635C>T	c.(2635-2637)Cct>Tct	p.P879S		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	879					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AACCCCAATTCCTTCTTCCTC	0.398000													26	111					0	0	1	0	0
CLEC10A	10462	broad.mit.edu	37	17	6978703	6978703	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr17:6978703C>T	ENST00000254868.4	-	8	1086	c.758G>A	c.(757-759)gGa>gAa	p.G253E	CLEC10A_ENST00000571664.1_Missense_Mutation_p.G229E|CLEC10A_ENST00000416562.2_Missense_Mutation_p.G226E|CLEC10A_ENST00000576617.1_3'UTR	NM_182906.2	NP_878910.1	Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	253	C-type lectin.				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						ATAGTCTGTTCCATCCACCCA	0.572000													20	45					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15826559	15826559	+	Silent	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr16:15826559C>T	ENST00000338282.6	-	27	3619	c.3513G>A	c.(3511-3513)aaG>aaA	p.K1171K	MYH11_ENST00000452625.2_Silent_p.K1178K|MYH11_ENST00000396324.3_Silent_p.K1178K|MYH11_ENST00000300036.5_Silent_p.K1171K|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000576790.1_Silent_p.K1171K	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1171					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCTGCTCCCTCTTGGCCCTTG	0.587000			T	CBFB	AML								26	43					0	0	1	0	0
GBP2	2634	broad.mit.edu	37	1	89579781	89579781	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:89579781C>T	ENST00000370466.3	-	7	1335	c.1067G>A	c.(1066-1068)aGg>aAg	p.R356K	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	356					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CTCACTGTCCCTGTGCAGGTC	0.512000													128	25					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76845318	76845318	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chrX:76845318G>A	ENST00000373344.5	-	27	6417	c.6203C>T	c.(6202-6204)cCc>cTc	p.P2068L	ATRX_ENST00000395603.3_Missense_Mutation_p.P2030L|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2068	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATAAATAAGGGGTTTATCTTT	0.308000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						24	6					0	0	1	0	0
GDAP1	54332	broad.mit.edu	37	8	75275190	75275190	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr8:75275190A>G	ENST00000220822.7	+	5	676	c.596A>G	c.(595-597)cAt>cGt	p.H199R	GDAP1_ENST00000434412.2_Missense_Mutation_p.H131R|GDAP1_ENST00000521096.1_3'UTR	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	199	GST C-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CTGCTTGATCATGACAATGTC	0.323000													35	258					0	0	1	0	0
APCDD1L	164284	broad.mit.edu	37	20	57036482	57036482	+	Silent	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr20:57036482C>T	ENST00000371149.3	-	4	1100	c.870G>A	c.(868-870)gaG>gaA	p.E290E	APCDD1L_ENST00000491015.1_5'UTR|APCDD1L_ENST00000439429.1_Silent_p.E301E	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	290						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CTGGGCGCACCTCGCACCCCG	0.692000													7	5					0	0	1	0	0
RFPL1	5988	broad.mit.edu	37	22	29837951	29837951	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr22:29837951C>T	ENST00000354373.2	+	2	1003	c.794C>T	c.(793-795)tCc>tTc	p.S265F	RFPL1S_ENST00000461286.2_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	265	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						GAAGGTGGTTCCCATGTCTAT	0.473000													6	106					0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43617226	43617226	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr22:43617226G>A	ENST00000360835.3	-	13	1628	c.1502C>T	c.(1501-1503)cCc>cTc	p.P501L		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	501					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CTGGCTGTGGGGCCGGAGGTG	0.642000													9	26					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101703598	101703598	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr12:101703598C>T	ENST00000261637.4	+	19	2386	c.2212C>T	c.(2212-2214)Cct>Tct	p.P738S		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	738					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ACTCTGGGATCCTGTTATTGA	0.373000													51	101					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415762	86415762	+	Silent	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr7:86415762C>T	ENST00000361669.2	+	3	1753	c.654C>T	c.(652-654)tcC>tcT	p.S218S	GRM3_ENST00000394720.2_Silent_p.S216S|GRM3_ENST00000536043.1_Silent_p.S90S|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Silent_p.S218S	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	218					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)	CAGTAGCCTCCGAGGGTGATT	0.602000													25	42					0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47938616	47938616	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr4:47938616C>T	ENST00000402813.3	-	10	2244	c.2102G>A	c.(2101-2103)gGg>gAg	p.G701E	CNGA1_ENST00000358519.4_Missense_Mutation_p.G632E|CNGA1_ENST00000544810.1_Missense_Mutation_p.G632E|CNGA1_ENST00000420489.2_Missense_Mutation_p.G632E|CNGA1_ENST00000514170.1_Missense_Mutation_p.G632E			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	632					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						GTCTACTGACCCCTCCATTCG	0.428000													56	116					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49699266	49699266	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr3:49699266C>T	ENST00000296452.4	+	6	10102	c.9988C>T	c.(9988-9990)Cga>Tga	p.R3330*		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3330					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCATGGGGCTCGAGTAGAGAA	0.617000													15	26					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52862127	52862127	+	Missense_Mutation	SNP	C	C	G			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr4:52862127C>G	ENST00000343457.3	-	4	1067	c.1061G>C	c.(1060-1062)aGg>aCg	p.R354T		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	354						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TCTAACACTCCTTGGCAGCCG	0.602000													12	13					0	0	1	0	0
LONRF3	79836	broad.mit.edu	37	X	118123396	118123396	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chrX:118123396C>T	ENST00000365713.2	+	3	1125	c.962C>T	c.(961-963)tCt>tTt	p.S321F	LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000371628.3_Missense_Mutation_p.S362F|LONRF3_ENST00000304778.7_Missense_Mutation_p.S321F|LONRF3_ENST00000422289.2_Missense_Mutation_p.S106F			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	362					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CCACATTGTTCTAGTCAGGAG	0.498000													32	13					0	0	1	0	0
NBR1	4077	broad.mit.edu	37	17	41345575	41345575	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr17:41345575C>T	ENST00000422280.1	+	12	1903	c.1444C>T	c.(1444-1446)Ccc>Tcc	p.P482S	NBR1_ENST00000589872.1_Missense_Mutation_p.P482S|NBR1_ENST00000389312.4_Missense_Mutation_p.P482S|NBR1_ENST00000542611.1_Missense_Mutation_p.P461S|NBR1_ENST00000341165.6_Missense_Mutation_p.P482S|NBR1_ENST00000590996.1_Missense_Mutation_p.P482S	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	482					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		AGATCCTTTCCCCTCCGAAGA	0.512000													5	10					0	0	1	0	0
APOBR	55911	broad.mit.edu	37	16	28509498	28509498	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr16:28509498C>T	ENST00000564831.1	+	3	3085	c.3052C>T	c.(3052-3054)Cgt>Tgt	p.R1018C	APOBR_ENST00000328423.5_Missense_Mutation_p.R1009C|APOBR_ENST00000431282.1_Missense_Mutation_p.R1009C	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	1009					cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCCCTCTTTTCGTCGGACTCC	0.682000													7	8					0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958083	121958083	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr4:121958083C>T	ENST00000379692.4	-	4	1569	c.1043G>A	c.(1042-1044)gGg>gAg	p.G348E		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	348										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TGTTATCTTCCCATCTTTTAG	0.423000													42	76					0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28193562	28193562	+	Silent	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr22:28193562G>A	ENST00000302326.4	-	1	3924	c.2970C>T	c.(2968-2970)tcC>tcT	p.S990S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	990							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TCTCGCCTGCGGAGCTTCCCC	0.711000			T	ETV6	"""AML, meningioma"""								5	19					0	0	1	0	0
IGLV3-16	28799	broad.mit.edu	37	22	23090157	23090157	+	RNA	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr22:23090157C>T	ENST00000390311.2	+	0	134																											TGTCAGTGTCCCTAGGACAGA	0.537000													31	54					0	0	1	0	0
ADHFE1	137872	broad.mit.edu	37	8	67356917	67356917	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr8:67356917C>T	ENST00000396623.3	+	5	318	c.287C>T	c.(286-288)tCc>tTc	p.S96F	ADHFE1_ENST00000379385.4_Missense_Mutation_p.S96F|ADHFE1_ENST00000415254.1_Missense_Mutation_p.S48F|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	96					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GCTATGGATTCCCTAGTGAAG	0.403000													443	165					0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39159118	39159118	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr6:39159118T>C	ENST00000359534.3	-	5	1386	c.1048A>G	c.(1048-1050)Aac>Gac	p.N350D		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	350					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GGCACCCGGTTCTTGGAGTAG	0.672000													16	23					0	0	1	0	0
SWT1	54823	broad.mit.edu	37	1	185153946	185153946	+	Silent	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:185153946C>T	ENST00000367500.4	+	9	1477	c.1312C>T	c.(1312-1314)Cta>Tta	p.L438L	SWT1_ENST00000367501.3_Silent_p.L438L	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	438	PINc.									breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						GGAAGGAAAACTACTAAAACG	0.358000													66	102					0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52911460	52911460	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr12:52911460C>T	ENST00000252242.4	-	5	1396	c.1006G>A	c.(1006-1008)Gat>Aat	p.D336N		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	336	Linker 12.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		ATGATGCTATCCAGGTCCAGG	0.572000													42	112					0	0	1	0	0
MBOAT7	79143	broad.mit.edu	37	19	54684685	54684685	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:54684685T>C	ENST00000245615.1	-	6	1139	c.659A>G	c.(658-660)gAc>gGc	p.D220G	MBOAT7_ENST00000338624.6_Missense_Mutation_p.D147G|MBOAT7_ENST00000431666.2_Missense_Mutation_p.D147G|MBOAT7_ENST00000391754.1_Missense_Mutation_p.D220G	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	220					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GTAGAAGGCGTCCTCGCGCAC	0.706000											OREG0003644	type=REGULATORY REGION|Gene=AK123290|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	4	1					0	0	1	0	0
ZNF33B	7582	broad.mit.edu	37	10	43089606	43089606	+	Silent	SNP	G	G	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr10:43089606G>A	ENST00000359467.3	-	5	906	c.792C>T	c.(790-792)ttC>ttT	p.F264F	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	264						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						GTATCTGATGGAACAAGAGGG	0.398000													32	57					0	0	1	0	0
PTPDC1	138639	broad.mit.edu	37	9	96857654	96857654	+	Silent	SNP	C	C	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr9:96857654C>T	ENST00000375360.3	+	6	850	c.510C>T	c.(508-510)atC>atT	p.I170I	PTPDC1_ENST00000288976.3_Silent_p.I222I	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	170	Tyrosine-protein phosphatase.						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TTACTACTATCCTAGATATGG	0.398000													41	67					0	0	1	0	0
GUF1	60558	broad.mit.edu	37	4	44700577	44700577	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr4:44700577delC	ENST00000281543.5	+	17	2083	c.1889delC	c.(1888-1890)acfs	p.T630fs	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	630					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						GGTGATATTACCCGAAAAATG	0.343													25	73	---	---	---	---					
AC006988.1	0	broad.mit.edu	37	7	88269891	88269891	+	RNA	DEL	T	T	-			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr7:88269891delT	ENST00000390184.1	+	0	57																											GAAGGAGCACTTTTTTTTTTT	0.313													2	4	---	---	---	---					
AZGP1P1	646282	broad.mit.edu	37	7	99578706	99578706	+	RNA	DEL	A	A	-			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr7:99578706delA	ENST00000425474.1	+	0	87					NR_036679.1																						cttagtttacagtgaaaacaa	0.522													3	5	---	---	---	---					
TBL3	10607	broad.mit.edu	37	16	2025061	2025084	+	In_Frame_Del	DEL	CTCACTGGCCTTCAGCGCCGACGG	CTCACTGGCCTTCAGCGCCGACGG	-	rs147896871	byFrequency	TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr16:2025061_2025084delCTCACTGGCCTTCAGCGCCGACGG	ENST00000568546.1	+	7	725_748	c.597_620delCTCACTGGCCTTCAGCGCCGACGG	c.(595-621)acc>ac	p.TSLAFSADG199del		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	199					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GCGCCGTCACCTCACTGGCCTTCAGCGCCGACGGCCACACCATG	0.643													13	33	---	---	---	---					
CEP192	55125	broad.mit.edu	37	18	13056266	13056268	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr18:13056266_13056268delCTC	ENST00000506447.1	+	19	3757_3759	c.3677_3679delCTC	c.(3676-3681)act>a	p.TP1226del	CEP192_ENST00000325971.8_In_Frame_Del_p.TP630del|CEP192_ENST00000430049.2_In_Frame_Del_p.TP751del	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	821										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AACCAGTGTACTCCTATTCCCAG	0.502													24	47	---	---	---	---					
