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
SMPD4	55627	broad.mit.edu	37	2	130911487	130911487	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:130911487T>A	ENST00000409031.1	-	17	2946	c.1798A>T	c.(1798-1800)Atc>Ttc	p.I600F	SMPD4_ENST00000443958.2_Missense_Mutation_p.I264F|SMPD4_ENST00000431183.2_Missense_Mutation_p.I498F|SMPD4_ENST00000452225.2_Missense_Mutation_p.I341F|SMPD4_ENST00000426662.2_Missense_Mutation_p.I236F|SMPD4_ENST00000453750.1_Missense_Mutation_p.I349F|SMPD4_ENST00000351288.6_Missense_Mutation_p.I571F|SMPD4_ENST00000339679.7_Missense_Mutation_p.I458F	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	561					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GCCTGTGTGATGAGCTGAGCG	0.642000													3	35					0	0	0.115264	0	0
CDH5	1003	broad.mit.edu	37	16	66432402	66432402	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr16:66432402G>A	ENST00000341529.3	+	10	1677	c.1529G>A	c.(1528-1530)cGa>cAa	p.R510Q	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	510	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		ATAACACCACGAAACGTGAAG	0.488000													3	43					0	0	0.115264	0	0
DLG2	1740	broad.mit.edu	37	11	83585526	83585526	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:83585526G>A	ENST00000398309.2	-	11	1657	c.1187C>T	c.(1186-1188)tCc>tTc	p.S396F	DLG2_ENST00000532653.1_Missense_Mutation_p.S396F|DLG2_ENST00000524982.1_Missense_Mutation_p.S396F|DLG2_ENST00000531015.1_Missense_Mutation_p.S363F|DLG2_ENST00000418306.2_Missense_Mutation_p.S293F|DLG2_ENST00000398301.2_Missense_Mutation_p.S435F|DLG2_ENST00000280241.8_Missense_Mutation_p.S435F|DLG2_ENST00000376104.2_Missense_Mutation_p.S501F|DLG2_ENST00000543673.1_Missense_Mutation_p.S501F|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_Missense_Mutation_p.S150F|DLG2_ENST00000330014.6_Missense_Mutation_p.S335F	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	396						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GCTATGTTGGGAATGACTGCA	0.368000													9	32					0	0	0.335167	0	0
ZNF112	7665	broad.mit.edu	37	19	44832196	44832196	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:44832196T>G	ENST00000354340.4	-	4	2165	c.2114A>C	c.(2113-2115)cAt>cCt	p.H705P	ZNF112_ENST00000536500.1_Missense_Mutation_p.H728P|ZNF112_ENST00000337401.4_Missense_Mutation_p.H711P	NM_013380.3	NP_037512.3			zinc finger protein 112																		GACACTCTGATGACTCTGAAG	0.458000													8	106					0	0	0.278610	0	0
PPAN	56342	broad.mit.edu	37	19	10225067	10225067	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:10225067T>A	ENST00000556468.1	+	13	2065	c.2038T>A	c.(2038-2040)Tcc>Acc	p.S680T	PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.S680T|P2RY11_ENST00000321826.4_Missense_Mutation_p.S260T|PPAN-P2RY11_ENST00000428358.1_3'UTR					peter pan homolog (Drosophila)											endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CTACGCCAGCTCCTATGTGCC	0.677000													10	78					0	0	0.387290	0	0
DDX43	55510	broad.mit.edu	37	6	74104707	74104707	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr6:74104707C>A	ENST00000370336.4	+	1	237	c.79C>A	c.(79-81)Cca>Aca	p.P27T	DDX43_ENST00000539829.1_Missense_Mutation_p.P27T|OOEP_ENST00000370363.1_5'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	27						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GTCCCGAGCGCCAGAGAGGAG	0.642000													13	73					6.72482e-11	7.79226e-11	0.479597	1	0
AMZ1	155185	broad.mit.edu	37	7	2740214	2740214	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr7:2740214C>A	ENST00000312371.4	+	2	497	c.129C>A	c.(127-129)ttC>ttA	p.F43L	AMZ1_ENST00000407112.1_Missense_Mutation_p.F43L	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	43							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		AGCGGCTCTTCCTGGCCGAGG	0.672000													16	182					1.02788e-11	1.19738e-11	0.520397	1	0
PRKDC	5591	broad.mit.edu	37	8	48801649	48801649	+	Silent	SNP	C	C	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:48801649C>A	ENST00000314191.2	-	34	4259	c.4203G>T	c.(4201-4203)ctG>ctT	p.L1401L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.L1401L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1402					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GAGCTTTCATCAGATTCACAC	0.483000								Non-homologous end-joining					6	60					0.00116845	0.00120703	0.217242	1	0
RYR2	6262	broad.mit.edu	37	1	237947096	237947096	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:237947096G>A	ENST00000366574.2	+	90	12401	c.12084G>A	c.(12082-12084)tcG>tcA	p.S4028S	RYR2_ENST00000360064.6_Silent_p.S4034S|RYR2_ENST00000542537.1_Silent_p.S4012S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4028	EF-hand.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTTGACGTCGTCTGATACTT	0.423000													4	19					0	0	0.150653	0	0
CYTIP	9595	broad.mit.edu	37	2	158272595	158272595	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:158272595C>T	ENST00000264192.3	-	8	795	c.674G>A	c.(673-675)gGa>gAa	p.G225E	CYTIP_ENST00000540637.1_Missense_Mutation_p.G119E	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	225					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						AGGCAGGGGTCCAAACAAAGA	0.498000													11	41					0	0	0.361761	0	0
FGFRL1	53834	broad.mit.edu	37	4	1017629	1017629	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr4:1017629C>T	ENST00000398484.2	+	6	1038	c.458C>T	c.(457-459)tCc>tTc	p.S153F	FGFRL1_ENST00000510644.1_Missense_Mutation_p.S153F|FGFRL1_ENST00000504138.1_Missense_Mutation_p.S153F|FGFRL1_ENST00000264748.6_Missense_Mutation_p.S153F			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	153	Ig-like C2-type 2.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ACACAGCCCTCCAAGATGAGG	0.711000													4	8					0	0	0.150653	0	0
DHX34	9704	broad.mit.edu	37	19	47856504	47856504	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:47856504C>G	ENST00000328771.4	+	2	566	c.217C>G	c.(217-219)Ctc>Gtc	p.L73V		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	73						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		ATTCCAGAATCTCAAGACCTC	0.537000													4	111					0	0	0.150653	0	0
UGT2B15	7366	broad.mit.edu	37	4	69513072	69513072	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr4:69513072C>A	ENST00000338206.5	-	6	1352	c.1343G>T	c.(1342-1344)aGa>aTa	p.R448I		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	448					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										ATGATGAATTCTTGATAATTT	0.383000													6	118					0.000157383	0.000165706	0.278610	1	0
MMP2	4313	broad.mit.edu	37	16	55530841	55530841	+	Silent	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr16:55530841C>T	ENST00000219070.4	+	10	1985	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	MMP2_ENST00000437642.2_Silent_p.F442F|MMP2_ENST00000570308.1_Silent_p.F416F|MMP2_ENST00000543485.1_Silent_p.F416F	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	492	Hemopexin-like 1.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	CTGCCAGGTTCATTTGGCGGA	0.592000													6	65					0	0	0.217242	0	0
DHX9	1660	broad.mit.edu	37	1	182812436	182812436	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:182812436T>G	ENST00000367549.3	+	3	229	c.119T>G	c.(118-120)gTg>gGg	p.V40G		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	40	DRBM 1.|Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	p.V40G(8)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAGGTTCAGGTGGAAGGTTAT	0.333000													6	46					0	0	0.278610	0	0
NUP155	9631	broad.mit.edu	37	5	37331895	37331895	+	Silent	SNP	C	C	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr5:37331895C>G	ENST00000231498.3	-	14	1724	c.1521G>C	c.(1519-1521)ggG>ggC	p.G507G	NUP155_ENST00000513532.1_Silent_p.G507G|NUP155_ENST00000381843.2_Silent_p.G448G	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	507					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACATAAGGCTCCCCTAAGAAA	0.343000													6	65					0	0	0.217242	0	0
MUC2	4583	broad.mit.edu	37	11	1103265	1103265	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:1103265C>T	ENST00000441003.2	+	46	8042	c.8015C>T	c.(8014-8016)tCg>tTg	p.S2672L		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5034						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAGCTCATCTCGTCCGTCTCC	0.592000													4	69					0	0	0.150653	0	0
DMKN	93099	broad.mit.edu	37	19	36003956	36003956	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:36003956G>A	ENST00000339686.3	-	1	598	c.422C>T	c.(421-423)gCt>gTt	p.A141V	DMKN_ENST00000447113.2_Missense_Mutation_p.A141V|DMKN_ENST00000440396.1_Missense_Mutation_p.A141V|DMKN_ENST00000418261.1_Missense_Mutation_p.A141V|DMKN_ENST00000419602.1_Missense_Mutation_p.A141V|DMKN_ENST00000451297.2_Missense_Mutation_p.A141V|DMKN_ENST00000429837.1_Missense_Mutation_p.A141V|DMKN_ENST00000424570.2_Missense_Mutation_p.A141V	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	dermokine	141	Gly-rich.					extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACTCACCCAAGCACCATTGTG	0.582000													8	39					0	0	0.361761	0	0
ATP13A4	84239	broad.mit.edu	37	3	193166066	193166066	+	Missense_Mutation	SNP	C	C	T	rs144335118		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr3:193166066C>T	ENST00000342695.4	-	18	2403	c.2081G>A	c.(2080-2082)cGa>cAa	p.R694Q	ATP13A4_ENST00000392443.3_Missense_Mutation_p.R675Q	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	694					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTCCTTCAATCGATTCTCCAA	0.393000													13	108					0	0	0.457914	0	0
PNMAL2	57469	broad.mit.edu	37	19	46998632	46998632	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:46998632C>T	ENST00000599531.1	-	1	1123	c.91G>A	c.(91-93)Gag>Aag	p.E31K	PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_3'UTR|PNMAL2_ENST00000377655.2_Missense_Mutation_p.E31K	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	31										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		tctgcctgctccaggccctcc	0.667000													27	56					0	0	0.681144	0	0
NEB	4703	broad.mit.edu	37	2	152385794	152385794	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:152385794G>C	ENST00000397345.3	-	146	21867	c.21665C>G	c.(21664-21666)tCc>tGc	p.S7222C	NEB_ENST00000409198.1_Missense_Mutation_p.S5521C|NEB_ENST00000172853.10_Missense_Mutation_p.S5521C|NEB_ENST00000427231.2_Missense_Mutation_p.S7222C|NEB_ENST00000603639.1_Missense_Mutation_p.S7222C|NEB_ENST00000604864.1_Missense_Mutation_p.S7222C	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5521					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGTGCAGTTGGATTTATTTCT	0.393000													5	40					0	0	0.217242	0	0
FAM117B	150864	broad.mit.edu	37	2	203621983	203621983	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:203621983G>A	ENST00000303116.6	+	6	1162	c.420G>A	c.(418-420)caG>caA	p.Q140Q	FAM117B_ENST00000392238.2_Silent_p.Q384Q	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	384	Poly-Pro.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						CCCTTGTACAGAGAAGTAGCA	0.498000													4	50					0	0	0.150653	0	0
PITPNM1	9600	broad.mit.edu	37	11	67262617	67262617	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:67262617G>A	ENST00000356404.3	-	17	2787	c.2562C>T	c.(2560-2562)gtC>gtT	p.V854V	PITPNM1_ENST00000436757.2_Silent_p.V853V|PITPNM1_ENST00000534749.1_Silent_p.V854V	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	854	DDHD.				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GGGGCAGCGTGACGGTGGGAA	0.667000													4	56					0	0	0.217242	0	0
OR14A16	284532	broad.mit.edu	37	1	247978352	247978352	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:247978352G>A	ENST00000357627.1	-	1	679	c.680C>T	c.(679-681)cCt>cTt	p.P227L		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TTCTGTGGAAGGGATCTTCTT	0.403000													10	54					0	0	0.335167	0	0
SLC44A5	204962	broad.mit.edu	37	1	75683637	75683637	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:75683637G>T	ENST00000370855.5	-	18	1651	c.1538C>A	c.(1537-1539)aCa>aAa	p.T513K	SLC44A5_ENST00000535611.1_Missense_Mutation_p.T383K|SLC44A5_ENST00000370859.3_Missense_Mutation_p.T513K	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	513						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TAGGGATCCTGTGTGATATCT	0.284000													4	45					0.00909568	0.0092649	0.150653	1	0
LRRC39	127495	broad.mit.edu	37	1	100620742	100620742	+	Missense_Mutation	SNP	G	G	A	rs149823600		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:100620742G>A	ENST00000370138.1	-	8	875	c.677C>T	c.(676-678)aCg>aTg	p.T226M	LRRC39_ENST00000342895.3_Missense_Mutation_p.T226M|LRRC39_ENST00000370137.1_Missense_Mutation_p.T226M	NM_001256385.1	NP_001243314.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	226										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		CAGCCATAACGTATGTAGATT	0.294000													7	29					0	0	0.248553	0	0
HEXA	3073	broad.mit.edu	37	15	72668095	72668095	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr15:72668095G>A	ENST00000268097.5	-	1	722	c.219C>T	c.(217-219)ttC>ttT	p.F73F	HEXA_ENST00000566304.1_Silent_p.F73F|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567159.1_Silent_p.F73F|HEXA_ENST00000429918.2_5'UTR|HEXA_ENST00000567213.1_5'UTR|HEXA_ENST00000457859.2_5'UTR	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	73					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						ACCCGGAACCGAAAAGCAGGT	0.627000													24	161					0	0	0.667858	0	0
VWA8	23078	broad.mit.edu	37	13	42295521	42295521	+	Silent	SNP	T	T	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr13:42295521T>A	ENST00000379310.3	-	25	3017	c.2949A>T	c.(2947-2949)atA>atT	p.I983I	VWA8_ENST00000281496.6_Silent_p.I983I	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		AATGTTTGACTATGTTGACAA	0.408000													8	125					0	0	0.278610	0	0
FAM47A	158724	broad.mit.edu	37	X	34148157	34148157	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chrX:34148157C>A	ENST00000346193.3	-	1	2290	c.2239G>T	c.(2239-2241)Ggc>Tgc	p.G747C		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	747										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						ATTTCATAGCCCTTGCTTAGA	0.408000													14	68					4.3838e-07	4.89823e-07	0.435327	1	0
KLHL24	54800	broad.mit.edu	37	3	183381346	183381346	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr3:183381346G>C	ENST00000454652.1	+	5	1407	c.1021G>C	c.(1021-1023)Gaa>Caa	p.E341Q	KLHL24_ENST00000476808.1_Missense_Mutation_p.E341Q|KLHL24_ENST00000242810.6_Missense_Mutation_p.E341Q			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	341						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TGTAACAGGAGAATGGAAGTC	0.413000													5	111					0	0	0.184627	0	0
MLLT10	8028	broad.mit.edu	37	10	22022748	22022748	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr10:22022748C>T	ENST00000377072.3	+	21	2944	c.2596C>T	c.(2596-2598)Cca>Tca	p.P866S	MLLT10_ENST00000377059.3_Missense_Mutation_p.P850S|MLLT10_ENST00000307729.7_Missense_Mutation_p.P850S|MLLT10_ENST00000446906.2_Missense_Mutation_p.P850S	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	866					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TCTTTCTACCCCACCTCCTGC	0.527000			T	"""MLL, PICALM, CDK6"""	AL								11	35					0	0	0.411799	0	0
TM4SF1	4071	broad.mit.edu	37	3	149089484	149089484	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr3:149089484G>A	ENST00000472441.1	-	2	440	c.317C>T	c.(316-318)tCt>tTt	p.S106F	TM4SF1_ENST00000305366.3_Missense_Mutation_p.S195F			P30408	T4S1_HUMAN	transmembrane 4 L six family member 1	195						integral to plasma membrane				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CTGTTGGTGAGAGCAGCAAAA	0.398000													29	130					0	0	0.760397	0	0
MKI67	4288	broad.mit.edu	37	10	129904685	129904685	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr10:129904685C>G	ENST00000368654.3	-	13	5794	c.5419G>C	c.(5419-5421)Gac>Cac	p.D1807H	MKI67_ENST00000368653.3_Missense_Mutation_p.D1447H	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1807	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCTGGCTGGTCCAGTTTCTGC	0.493000													8	110					0	0	0.361761	0	0
TTN	7273	broad.mit.edu	37	2	179664379	179664379	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:179664379G>A	ENST00000589042.1	-	6	973	c.749C>T	c.(748-750)cCa>cTa	p.P250L	TTN_ENST00000360870.5_Missense_Mutation_p.P250L|TTN_ENST00000591111.1_Missense_Mutation_p.P250L|TTN_ENST00000359218.5_Missense_Mutation_p.P250L|TTN_ENST00000460472.2_Missense_Mutation_p.P250L|TTN_ENST00000342992.6_Missense_Mutation_p.P250L|TTN_ENST00000342175.6_Missense_Mutation_p.P250L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	250							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)			TGTTTTATGTGGCAGCTGTTG	0.498000													19	47					0	0	0.575678	0	0
FAT3	120114	broad.mit.edu	37	11	92577460	92577460	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:92577460G>A	ENST00000298047.6	+	18	10944	c.10927G>A	c.(10927-10929)Gag>Aag	p.E3643K	FAT3_ENST00000525166.1_Missense_Mutation_p.E3493K|FAT3_ENST00000409404.2_Missense_Mutation_p.E3643K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3643	Cadherin 33.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTTGGTGCATGAGATGCTGCA	0.562000										TCGA Ovarian(4;0.039)			9	102					0	0	0.307466	0	0
HAPLN4	404037	broad.mit.edu	37	19	19371769	19371769	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:19371769G>A	ENST00000291481.7	-	3	400	c.337C>T	c.(337-339)Cgt>Tgt	p.R113C	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	113	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			GCCCGCCCACGGTAGCTGCCG	0.677000													3	57					0	0	0.115264	0	0
HELLS	3070	broad.mit.edu	37	10	96333910	96333910	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr10:96333910G>A	ENST00000348459.5	+	8	776	c.671G>A	c.(670-672)cGa>cAa	p.R224Q	HELLS_ENST00000394045.1_Missense_Mutation_p.R224Q|HELLS_ENST00000371332.4_Missense_Mutation_p.R224Q|HELLS_ENST00000394044.1_Missense_Mutation_p.R224Q|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394036.1_3'UTR	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	224					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GGAGTGATGCGATGGTACCAA	0.393000													5	92					0	0	0.217242	0	0
PRPH2	5961	broad.mit.edu	37	6	42689520	42689520	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr6:42689520G>A	ENST00000230381.5	-	1	792	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	185			L -> P (in RP7; in combination with a null mutation of ROM1).		cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			GAAAAGTCCAGGTAGCGATTG	0.502000													24	141					0	0	0.639603	0	0
YY1AP1	55249	broad.mit.edu	37	1	155640205	155640205	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:155640205T>C	ENST00000368340.5	-	7	1156	c.1048A>G	c.(1048-1050)Agc>Ggc	p.S350G	YY1AP1_ENST00000438245.2_Intron|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000295566.4_Missense_Mutation_p.S278G|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000347088.5_Missense_Mutation_p.S212G|YY1AP1_ENST00000407221.1_Missense_Mutation_p.S201G|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000311573.5_Missense_Mutation_p.S201G|YY1AP1_ENST00000359205.5_Missense_Mutation_p.S201G|YY1AP1_ENST00000535662.1_Missense_Mutation_p.S78G|YY1AP1_ENST00000405763.3_Missense_Mutation_p.S350G|YY1AP1_ENST00000404643.1_Missense_Mutation_p.S212G|YY1AP1_ENST00000368339.5_Missense_Mutation_p.S350G|YY1AP1_ENST00000361831.5_Missense_Mutation_p.S201G|YY1AP1_ENST00000368330.2_Missense_Mutation_p.S212G|YY1AP1_ENST00000355499.4_Missense_Mutation_p.S212G	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AAAACCTTGCTTGTGGCCAGG	0.428000													31	60					0	0	0.750413	0	0
CCDC147	159686	broad.mit.edu	37	10	106160509	106160509	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr10:106160509G>C	ENST00000369704.3	+	13	2021	c.1887G>C	c.(1885-1887)gaG>gaC	p.E629D		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	629										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TGCTCTATGAGAAGATCAAGA	0.488000													11	60					0	0	0.387290	0	0
DDX43	55510	broad.mit.edu	37	6	74104706	74104706	+	Silent	SNP	G	G	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr6:74104706G>T	ENST00000370336.4	+	1	236	c.78G>T	c.(76-78)gcG>gcT	p.A26A	DDX43_ENST00000539829.1_Silent_p.A26A|OOEP_ENST00000370363.1_5'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	26						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TGTCCCGAGCGCCAGAGAGGA	0.642000													13	73					2.31682e-05	2.48718e-05	0.479597	1	0
TTN	7273	broad.mit.edu	37	2	179434069	179434069	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:179434069C>G	ENST00000589042.1	-	326	77014	c.76790G>C	c.(76789-76791)aGa>aCa	p.R25597T	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R23956T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16657T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16532T|TTN_ENST00000342992.6_Missense_Mutation_p.R23029T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16724T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23956	Fibronectin type-III 86.						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)			GTCCAGAACTCTCACAGTAAC	0.423000													12	161					0	0	0.387290	0	0
PCDHA6	56142	broad.mit.edu	37	5	140207691	140207691	+	Silent	SNP	G	G	A	rs17844300		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr5:140207691G>A	ENST00000529310.1	+	1	129	c.15G>A	c.(13-15)ccG>ccA	p.P5P	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Silent_p.P5P|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTTACCCCGGAGGATAGAT	0.478000													20	121					0	0	0.608945	0	0
ACOT12	134526	broad.mit.edu	37	5	80667569	80667569	+	Splice_Site	SNP	C	C	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr5:80667569C>A	ENST00000307624.3	-	3	286	c.258_splice	c.e3+1	p.E86_splice	ACOT12_ENST00000513751.1_Splice_Site_p.E86_splice	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	86	Acyl coenzyme A hydrolase 1.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TGCCTCTTACCTCCATGCTTG	0.398000													19	52					1.9806e-07	2.23583e-07	0.624587	1	0
TTC22	55001	broad.mit.edu	37	1	55266812	55266812	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:55266812C>T	ENST00000371276.4	-	1	128	c.25G>A	c.(25-27)Gac>Aac	p.D9N	TTC22_ENST00000371274.4_Missense_Mutation_p.D9N	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	9							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TCTAGATCGTCGGCCACAGCC	0.667000													3	26					0	0	0.115264	0	0
A2ML1	144568	broad.mit.edu	37	12	9001323	9001323	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:9001323G>A	ENST00000299698.7	+	16	2021	c.1841G>A	c.(1840-1842)gGg>gAg	p.G614E	A2ML1_ENST00000540049.1_3'UTR|A2ML1_ENST00000539547.1_Missense_Mutation_p.G123E	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	458						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CAGGTCTATGGGATGTTTCCA	0.473000													19	112					0	0	0.608945	0	0
MACF1	23499	broad.mit.edu	37	1	39797053	39797053	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:39797053G>A	ENST00000564288.1	+	37	5570	c.4793G>A	c.(4792-4794)gGc>gAc	p.G1598D	MACF1_ENST00000372915.3_Missense_Mutation_p.G1603D|MACF1_ENST00000289893.4_Missense_Mutation_p.G38D|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.G1635D|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1603					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTGGAGGAGGGCATAGCCAGA	0.537000													4	76					0	0	0.150653	0	0
PEG3	5178	broad.mit.edu	37	19	57327205	57327205	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:57327205T>G	ENST00000326441.9	-	10	2968	c.2605A>C	c.(2605-2607)Aat>Cat	p.N869H	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.N743H|PEG3_ENST00000423103.2_Missense_Mutation_p.N869H|PEG3_ENST00000598410.1_Missense_Mutation_p.N745H|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	869					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)		CGCTTATCATTAAGGTCTGAG	0.438000													9	76					0	0	0.335167	0	0
KCNA3	3738	broad.mit.edu	37	1	111216896	111216896	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:111216896A>T	ENST00000369769.2	-	1	759	c.536T>A	c.(535-537)aTt>aAt	p.I179N		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	179						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCGGAGAAAATGTCGATGGG	0.647000													23	98					0	0	0.639603	0	0
BAGE2	85319	broad.mit.edu	37	21	11049619	11049619	+	RNA	SNP	T	T	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr21:11049619T>A	ENST00000470054.1	-	0	489									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCATCTTCCTTCGCTATAATT	0.373000													7	205					0	0	0.278610	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43678751	43678751	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr10:43678751C>T	ENST00000374466.3	+	8	1725	c.1390C>T	c.(1390-1392)Cga>Tga	p.R464*		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	464					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCATCTTTATCGAAAATACTT	0.438000													6	132					0	0	0.248553	0	0
UGT2B11	10720	broad.mit.edu	37	4	70080064	70080064	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr4:70080064A>T	ENST00000446444.1	-	1	385	c.377T>A	c.(376-378)tTc>tAc	p.F126Y	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	126					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ATCTTTACAGAAGTTTCTAAA	0.333000													12	79					0	0	0.479597	0	0
LOC100294341	100294341	broad.mit.edu	37	17	43585954	43585954	+	RNA	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr17:43585954G>A	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							CATTTCCCACGTATCTCACAA	0.493000													14	33					0	0	0.457914	0	0
UGT1A4	54657	broad.mit.edu	37	2	234627538	234627538	+	Silent	SNP	C	C	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:234627538C>G	ENST00000373409.3	+	1	115	c.72C>G	c.(70-72)ccC>ccG	p.P24P	UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		GTGTCCAGCCCTGGGCTGAGA	0.657000													10	58					0	0	0.335167	0	0
PTPN13	5783	broad.mit.edu	37	4	87691069	87691069	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr4:87691069G>C	ENST00000436978.1	+	29	5132	c.4652G>C	c.(4651-4653)gGa>gCa	p.G1551A	PTPN13_ENST00000511467.1_Missense_Mutation_p.G1551A|PTPN13_ENST00000427191.2_Missense_Mutation_p.G1527A|PTPN13_ENST00000316707.6_Missense_Mutation_p.G1355A|PTPN13_ENST00000411767.2_Missense_Mutation_p.G1546A	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1546	PDZ 3.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GCAGAAAGTGGAAAAATTGAT	0.408000													7	98					0	0	0.248553	0	0
RP1	6101	broad.mit.edu	37	8	55541982	55541982	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:55541982T>C	ENST00000220676.1	+	4	5688	c.5540T>C	c.(5539-5541)aTa>aCa	p.I1847T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1847					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGGAAAGAATAGCAAATCAT	0.408000													18	43					0	0	0.520397	0	0
SNHG14	104472715	broad.mit.edu	37	15	25331679	25331679	+	RNA	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr15:25331679G>A	ENST00000546682.1	+	0	453				SNHG14_ENST00000553108.1_RNA|SNORD116-19_ENST00000384729.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						TGCGTGGATCGATGATGACTT	0.448000													16	126					0	0	0.520397	0	0
OR11H6	122748	broad.mit.edu	37	14	20692714	20692714	+	Silent	SNP	A	A	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr14:20692714A>T	ENST00000315519.2	+	1	924	c.846A>T	c.(844-846)tcA>tcT	p.S282S		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GCCCAACATCAGGGAACCCAG	0.448000													5	71					0	0	0.217242	0	0
RPS27A	6233	broad.mit.edu	37	2	55462059	55462059	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:55462059G>A	ENST00000272317.6	+	5	606	c.282G>A	c.(280-282)aaG>aaA	p.K94K	RPS27A_ENST00000402285.3_Silent_p.K94K|RPS27A_ENST00000404735.1_Silent_p.K94K	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN	ribosomal protein S27a	94	Lys-rich (highly basic).				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						ATAAGCACAAGAGAAAGAAGG	0.398000													12	17					0	0	0.411799	0	0
TP53	7157	broad.mit.edu	37	17	7578177	7578177	+	Splice_Site	SNP	C	C	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr17:7578177C>A	ENST00000420246.2	-	6	804	c.672_splice	c.e6+1	p.E224_splice	TP53_ENST00000455263.2_Splice_Site_p.E224_splice|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Splice_Site_p.E224_splice|TP53_ENST00000269305.4_Splice_Site_p.E224_splice|TP53_ENST00000413465.2_Splice_Site_p.E224_splice|TP53_ENST00000445888.2_Splice_Site_p.E224_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	224	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E224D(20)|p.?(13)|p.E224E(12)|p.0?(8)|p.E131D(3)|p.E131E(2)|p.V218_E224delVPYEPPE(1)|p.V225fs*24(1)|p.E224_V225insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAAACCAGACCTCAGGCGGCT	0.532000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	6					5.18039e-06	5.67253e-06	0.278610	1	0
BSCL2	26580	broad.mit.edu	37	11	62458142	62458142	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:62458142C>T	ENST00000278893.7	-	9	1059	c.842G>A	c.(841-843)aGa>aAa	p.R281K	BSCL2_ENST00000407022.3_Silent_p.E328E|BSCL2_ENST00000403550.1_Silent_p.E328E|BSCL2_ENST00000433053.1_Silent_p.E392E|BSCL2_ENST00000360796.5_Silent_p.E392E|BSCL2_ENST00000405837.1_Silent_p.E394E|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000421906.1_Silent_p.E328E	NM_001130702.2	NP_001124174.2	Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	0					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GATCTGGTTTCTCCTCCTCGG	0.612000													5	119					0	0	0.184627	0	0
TAF10	6881	broad.mit.edu	37	11	6632981	6632981	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:6632981T>C	ENST00000299424.4	-	2	778	c.301A>G	c.(301-303)Agc>Ggc	p.S101G	TAF10_ENST00000531760.1_5'UTR	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	101					histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	estrogen receptor binding|RNA polymerase binding|transcription coactivator activity						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTGGCCGCGCTCGGCAGTACG	0.637000													3	15					0	0	0.115264	0	0
AGT	183	broad.mit.edu	37	1	230839947	230839947	+	Missense_Mutation	SNP	C	C	G	rs61751067		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:230839947C>G	ENST00000366667.4	-	4	1475	c.1261G>C	c.(1261-1263)Gtg>Ctg	p.V421L		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	421					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	ACCTCCCCCACCCTGATGCGG	0.582000													13	39					0	0	0.457914	0	0
ZNF30	90075	broad.mit.edu	37	19	35435405	35435405	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:35435405A>T	ENST00000439785.1	+	5	1982	c.1538A>T	c.(1537-1539)tAt>tTt	p.Y513F	ZNF30_ENST00000426813.2_Missense_Mutation_p.Y431F|ZNF30_ENST00000303586.7_Missense_Mutation_p.Y513F|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000601142.1_Missense_Mutation_p.Y512F	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		AAGAAGCCCTATGAGTGTAAG	0.423000													4	27					0	0	0.184627	0	0
ASB2	51676	broad.mit.edu	37	14	94417436	94417436	+	Silent	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr14:94417436C>T	ENST00000555019.1	-	6	1219	c.789G>A	c.(787-789)aaG>aaA	p.K263K	ASB2_ENST00000315988.4_Silent_p.K215K|ASB2_ENST00000556337.1_Intron	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	215					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TGGATTCCACCTTGGCTCCTC	0.607000													8	98					0	0	0.278610	0	0
SLC23A2	9962	broad.mit.edu	37	20	4855261	4855261	+	Silent	SNP	T	T	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr20:4855261T>A	ENST00000379333.1	-	10	1298	c.906A>T	c.(904-906)ggA>ggT	p.G302G	SLC23A2_ENST00000338244.1_Silent_p.G302G|SLC23A2_ENST00000424750.2_Silent_p.G188G|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	302					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACGCAGTCCATCCTTTCTTGG	0.383000													7	131					0	0	0.278610	0	0
LRRK2	120892	broad.mit.edu	37	12	40643742	40643742	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:40643742T>A	ENST00000298910.7	+	8	1011	c.953T>A	c.(952-954)cTc>cAc	p.L318H	LRRK2_ENST00000343742.2_Missense_Mutation_p.L318H	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	318					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGTTTGGCCCTCCTCAGTAAG	0.423000													3	28					0	0	0.150653	0	0
CD163	9332	broad.mit.edu	37	12	7653982	7653982	+	Silent	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:7653982C>T	ENST00000359156.4	-	3	412	c.210G>A	c.(208-210)gaG>gaA	p.E70E	CD163_ENST00000541972.1_Silent_p.E58E|CD163_ENST00000432237.2_Silent_p.E70E|CD163_ENST00000396620.3_Silent_p.E70E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	70	SRCR 1.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TTCCCCACTCCTCCTGGACTT	0.507000													10	60					0	0	0.335167	0	0
CDH10	1008	broad.mit.edu	37	5	24492957	24492957	+	Silent	SNP	G	G	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr5:24492957G>C	ENST00000264463.4	-	10	2100	c.1593C>G	c.(1591-1593)gtC>gtG	p.V531V	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	531	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGTTTGGATTGACAGCAGCTA	0.333000										HNSCC(23;0.051)			7	197					0	0	0.248553	0	0
HOOK3	84376	broad.mit.edu	37	8	42821703	42821703	+	Silent	SNP	G	G	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:42821703G>C	ENST00000307602.4	+	10	1067	c.867G>C	c.(865-867)ctG>ctC	p.L289L		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	289					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			ATGATGAACTGACCACTTTGG	0.448000			T	RET	papillary thyroid								4	89					0	0	0.150653	0	0
EYA3	2140	broad.mit.edu	37	1	28339624	28339624	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:28339624G>C	ENST00000373871.3	-	9	1007	c.767C>G	c.(766-768)tCt>tGt	p.S256C	EYA3_ENST00000545175.1_Missense_Mutation_p.S203C|EYA3_ENST00000540618.1_Missense_Mutation_p.S210C|EYA3_ENST00000436342.2_Missense_Mutation_p.S130C|EYA3_ENST00000373863.3_Missense_Mutation_p.S210C|EYA3_ENST00000373864.1_Missense_Mutation_p.S100C|EYA3_ENST00000471498.1_5'UTR			Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)	256					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		GTGCTTACCAGAGGAAAGTCT	0.468000													4	110					0	0	0.184627	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6529217	6529217	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:6529217C>T	ENST00000377748.1	-	20	2862	c.2365G>A	c.(2365-2367)Gag>Aag	p.E789K	PLEKHG5_ENST00000544978.1_Missense_Mutation_p.E712K|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.E712K|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.E712K|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.E712K|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.E791K|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.E768K|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.E712K|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.E749K|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.E712K|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.E789K|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.E781K	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	768					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		tcttcctcctcctgctcatcc	0.637000													17	87					0	0	0.539581	0	0
TICRR	90381	broad.mit.edu	37	15	90127621	90127621	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr15:90127621G>T	ENST00000268138.7	+	3	1144	c.1039G>T	c.(1039-1041)Gcc>Tcc	p.A347S	RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Missense_Mutation_p.A346S					TOPBP1-interacting checkpoint and replication regulator																		AGGCTCAGTGGCCCAGTGGTC	0.488000													16	56					1.15088e-07	1.30592e-07	0.500413	1	0
SPOCK3	50859	broad.mit.edu	37	4	167658711	167658711	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr4:167658711T>A	ENST00000357154.3	-	11	1185	c.1048A>T	c.(1048-1050)Aca>Tca	p.T350S	SPOCK3_ENST00000535728.1_Missense_Mutation_p.T218S|SPOCK3_ENST00000502330.1_Missense_Mutation_p.T350S|SPOCK3_ENST00000511531.1_Missense_Mutation_p.T350S|SPOCK3_ENST00000534949.1_Missense_Mutation_p.T254S|SPOCK3_ENST00000510741.1_Missense_Mutation_p.T307S|SPOCK3_ENST00000357545.4_Missense_Mutation_p.T347S|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Missense_Mutation_p.T252S|SPOCK3_ENST00000511269.1_Missense_Mutation_p.T347S|SPOCK3_ENST00000421836.2_Missense_Mutation_p.T299S|SPOCK3_ENST00000506886.1_Missense_Mutation_p.T350S|SPOCK3_ENST00000504953.1_Missense_Mutation_p.T347S|SPOCK3_ENST00000541637.1_Missense_Mutation_p.T252S|SPOCK3_ENST00000541354.1_Missense_Mutation_p.T230S	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	350	Thyroglobulin type-1.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TGACATTGTGTTGGCTTGTAG	0.423000													32	109					0	0	0.740014	0	0
LRIT2	340745	broad.mit.edu	37	10	85984686	85984686	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr10:85984686G>T	ENST00000372113.4	-	2	300	c.295C>A	c.(295-297)Ctg>Atg	p.L99M	LRIT2_ENST00000538192.1_Missense_Mutation_p.L99M	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	99						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AGGTGTTCCAGGGCTCCTAGG	0.522000													10	136					2.17888e-05	2.35061e-05	0.335167	1	0
OR10A3	26496	broad.mit.edu	37	11	7960482	7960482	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:7960482C>G	ENST00000360759.3	-	1	659	c.586G>C	c.(586-588)Gaa>Caa	p.E196Q		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCATAGATTTCAAATAAGAAG	0.418000													9	75					0	0	0.335167	0	0
ZNF761	388561	broad.mit.edu	37	19	53958826	53958826	+	RNA	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:53958826G>A	ENST00000454407.1	+	0	1518							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AACCTTACAAGTGTAATGAGT	0.418000													5	151					0	0	0.217242	0	0
BTBD1	53339	broad.mit.edu	37	15	83718833	83718833	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr15:83718833A>T	ENST00000261721.4	-	3	858	c.656T>A	c.(655-657)aTt>aAt	p.I219N	RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.I219N|RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	219						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		ACCTATATCAATATCAGTAAA	0.358000													6	45					0	0	0.217242	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716470	13716470	+	Silent	SNP	C	C	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:13716470C>A	ENST00000279593.3	-	13	3911	c.3702G>T	c.(3700-3702)tcG>tcT	p.S1234S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1234					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.S1234S(3)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCTGCCTGCCCGAGTTCTGAC	0.617000													5	55					3.59834e-05	3.84408e-05	0.217242	1	0
SMPDL3A	10924	broad.mit.edu	37	6	123124975	123124975	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr6:123124975G>C	ENST00000368440.4	+	5	912	c.735G>C	c.(733-735)gaG>gaC	p.E245D	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.E114D	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	245					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		AGAATAAGGAGAAGGTAGATC	0.393000													15	74					0	0	0.457914	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26888033	26888033	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:26888033A>T	ENST00000374168.2	+	17	1623	c.1469A>T	c.(1468-1470)gAg>gTg	p.E490V	RPS6KA1_ENST00000531382.1_Missense_Mutation_p.E499V|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.E479V|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.E474V|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.E398V|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.E398V	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	490	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CTGGTGACAGAGCTGATGCGG	0.582000													16	132					0	0	0.500413	0	0
GCC2	9648	broad.mit.edu	37	2	109116150	109116150	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:109116150A>G	ENST00000309863.6	+	22	5638	c.4924A>G	c.(4924-4926)Ata>Gta	p.I1642V		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1642	GRIP.|Mediates interaction with RAB9A.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TCTTCCTGTTATAAATACGAT	0.443000													19	277					0	0	0.608945	0	0
SRSF11	9295	broad.mit.edu	37	1	70716156	70716156	+	Silent	SNP	A	A	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:70716156A>G	ENST00000370950.3	+	12	1309	c.1227A>G	c.(1225-1227)gaA>gaG	p.E409E	SRSF11_ENST00000370949.1_Silent_p.E349E|SRSF11_ENST00000405432.1_Silent_p.E409E|SRSF11_ENST00000370951.1_Silent_p.E409E|SRSF11_ENST00000484162.1_3'UTR			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	409					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			large_intestine(3)|ovary(2)|skin(1)	6						aggaCCGGGAAAGAAAATCAG	0.318000													5	60					0	0	0.217242	0	0
CGNL1	84952	broad.mit.edu	37	15	57734631	57734631	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr15:57734631G>C	ENST00000281282.5	+	4	1836	c.1758G>C	c.(1756-1758)caG>caC	p.Q586H		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	586						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGAAAATCCAGACCTTAAAGT	0.408000													14	52					0	0	0.479597	0	0
MATN2	4147	broad.mit.edu	37	8	99006720	99006720	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:99006720G>T	ENST00000254898.5	+	7	1325	c.1094G>T	c.(1093-1095)tGt>tTt	p.C365F	MATN2_ENST00000520016.1_Missense_Mutation_p.C365F|MATN2_ENST00000524308.1_Intron|MATN2_ENST00000521689.1_Missense_Mutation_p.C365F|MATN2_ENST00000522025.2_Missense_Mutation_p.C81F	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	365	EGF-like 4.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			ATAGACTACTGTGCCTCATCT	0.423000													45	157					1.02067e-35	1.20825e-35	0.870114	1	0
ZNF527	84503	broad.mit.edu	37	19	37879433	37879433	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:37879433G>C	ENST00000436120.2	+	5	589	c.482G>C	c.(481-483)aGa>aCa	p.R161T	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTGGGAAAAGAGACAATGAA	0.383000													4	83					0	0	0.150653	0	0
ASB5	140458	broad.mit.edu	37	4	177190237	177190237	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr4:177190237C>T	ENST00000296525.3	-	1	136	c.23G>A	c.(22-24)cGg>cAg	p.R8Q		NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	8					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		AGCAAACGGCCGATTTTCTTC	0.448000													8	53					0	0	0.278610	0	0
MUC17	140453	broad.mit.edu	37	7	100684155	100684155	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr7:100684155G>A	ENST00000306151.4	+	3	9522	c.9458G>A	c.(9457-9459)aGc>aAc	p.S3153N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3153	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGGTACCAGCATGCCAACC	0.478000													108	208					0	0	0.870114	0	0
HTT	3064	broad.mit.edu	37	4	3201579	3201579	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr4:3201579C>T	ENST00000355072.5	+	41	5634	c.5489C>T	c.(5488-5490)cCg>cTg	p.P1830L		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1830					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACCACCCACCCGGCCCTGGTG	0.587000													7	46					0	0	0.248553	0	0
LPAR3	23566	broad.mit.edu	37	1	85331150	85331150	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:85331150G>A	ENST00000440886.1	-	1	692	c.654C>T	c.(652-654)aaC>aaT	p.N218N	LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Silent_p.N218N			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	218					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						GAGACAAGACGTTGGTTTTCC	0.512000													5	37					0	0	0.184627	0	0
GAS2L2	246176	broad.mit.edu	37	17	34073141	34073141	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr17:34073141G>A	ENST00000254466.6	-	6	1402	c.1375C>T	c.(1375-1377)Cct>Tct	p.P459S	GAS2L2_ENST00000587565.1_Missense_Mutation_p.P443S	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	459					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAGGAACGAGGCAGGGGAGAT	0.632000													21	99					0	0	0.592651	0	0
PCDH20	64881	broad.mit.edu	37	13	61985826	61985826	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr13:61985826G>A	ENST00000409186.1	-	5	4511	c.2406C>T	c.(2404-2406)ggC>ggT	p.G802G	PCDH20_ENST00000409204.4_Silent_p.G802G			Q8N6Y1	PCD20_HUMAN	protocadherin 20	775	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AAGTAATGTTGCCAGTTTTAG	0.488000													13	58					0	0	0.435327	0	0
SPATA19	219938	broad.mit.edu	37	11	133712445	133712445	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:133712445G>A	ENST00000299140.3	-	5	426	c.372C>T	c.(370-372)atC>atT	p.I124I	SPATA19_ENST00000532889.1_Silent_p.I124I	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	124					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		GCACTTGGAAGATACGAGTGT	0.468000													5	61					0	0	0.184627	0	0
WNK1	65125	broad.mit.edu	37	12	988982	988982	+	Silent	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:988982C>T	ENST00000315939.6	+	11	3260	c.2617C>T	c.(2617-2619)Ctg>Ttg	p.L873L	WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Silent_p.L1371L|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000340908.4_Silent_p.L466L	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	873					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TACTCAGCCTCTGCTCACGTT	0.532000													18	76					0	0	0.557998	0	0
APC	324	broad.mit.edu	37	5	112174376	112174376	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr5:112174376C>A	ENST00000457016.1	+	16	3465	c.3085C>A	c.(3085-3087)Ctt>Att	p.L1029I	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.L1029I|APC_ENST00000508376.2_Missense_Mutation_p.L1029I			P25054	APC_HUMAN	adenomatous polyposis coli	1029	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAATTATAGTCTTAAATATTC	0.363000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			5	65					0.00116845	0.00120703	0.217242	1	0
PTPN3	5774	broad.mit.edu	37	9	112216836	112216836	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr9:112216836A>G	ENST00000374541.2	-	5	412	c.308T>C	c.(307-309)cTg>cCg	p.L103P	PTPN3_ENST00000262539.3_Intron	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	103	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TCGAAAATGCAGGGTACAGGG	0.333000													3	124					0	0	0.150653	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27535842	27535842	+	RNA	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr10:27535842C>T	ENST00000574842.1	+	0	255																											AAGTTGAATGCAGTCCCAGCG	0.458000													3	32					0	0	0.115264	0	0
KRT73	319101	broad.mit.edu	37	12	53012018	53012018	+	Silent	SNP	C	C	T	rs142655706	byFrequency	TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:53012018C>T	ENST00000305748.3	-	1	325	c.291G>A	c.(289-291)tcG>tcA	p.S97S		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	97	Gly-rich.|Head.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCGGGCACAACGACGGACACA	0.637000													12	111					0	0	0.387290	0	0
TNIK	23043	broad.mit.edu	37	3	170928972	170928972	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr3:170928972C>G	ENST00000436636.2	-	4	583	c.239G>C	c.(238-240)cGg>cCg	p.R80P	TNIK_ENST00000369326.5_Missense_Mutation_p.R80P|TNIK_ENST00000538048.1_Missense_Mutation_p.R80P|TNIK_ENST00000475336.1_Missense_Mutation_p.R80P|TNIK_ENST00000341852.6_Missense_Mutation_p.R80P|TNIK_ENST00000460047.1_Missense_Mutation_p.R80P|TNIK_ENST00000488470.1_Missense_Mutation_p.R80P|TNIK_ENST00000470834.1_Missense_Mutation_p.R80P|TNIK_ENST00000357327.5_Missense_Mutation_p.R80P|TNIK_ENST00000284483.8_Missense_Mutation_p.R80P	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	80	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AGCAATATTCCGGTGATGAGA	0.343000													15	76					0	0	0.457914	0	0
TRPM1	4308	broad.mit.edu	37	15	31323321	31323321	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr15:31323321C>T	ENST00000542188.1	-	22	3356	c.3043G>A	c.(3043-3045)Gtg>Atg	p.V1015M	RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.V998M|TRPM1_ENST00000397795.2_Missense_Mutation_p.V976M|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	976					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTCATGAGCACGACCAGCATG	0.507000													13	62					0	0	0.411799	0	0
HERC2	8924	broad.mit.edu	37	15	28386662	28386662	+	Silent	SNP	A	A	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr15:28386662A>C	ENST00000261609.7	-	78	12039	c.11931T>G	c.(11929-11931)acT>acG	p.T3977T		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3977					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTCACAGGGAGTGGGAACTT	0.537000													4	61					0	0	0.150653	0	0
PIEZO2	63895	broad.mit.edu	37	18	10672764	10672764	+	Silent	SNP	C	C	T	rs138454862	byFrequency	TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr18:10672764C>T	ENST00000302079.6	-	50	7739	c.7740G>A	c.(7738-7740)ccG>ccA	p.P2580P	PIEZO2_ENST00000580640.1_Silent_p.P2668P|PIEZO2_ENST00000538948.1_Silent_p.P600P|PIEZO2_ENST00000503781.3_Silent_p.P2643P|PIEZO2_ENST00000285141.4_Silent_p.P435P|PIEZO2_ENST00000581680.1_5'UTR			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2643						integral to membrane	ion channel activity										CCTGAGAGTTCGGATTGTATA	0.438000													11	90					0	0	0.411799	0	0
CYP2C8	1558	broad.mit.edu	37	10	96827015	96827015	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr10:96827015C>T	ENST00000371270.3	-	3	525	c.431G>A	c.(430-432)cGt>cAt	p.R144H	CYP2C8_ENST00000539050.1_Missense_Mutation_p.R58H|CYP2C8_ENST00000535898.1_Missense_Mutation_p.R42H	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	144					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CTCTTGAACACGGTCCTCAAT	0.498000													41	100					0	0	0.853193	0	0
CACNB3	784	broad.mit.edu	37	12	49221458	49221458	+	Missense_Mutation	SNP	C	C	T	rs146819236		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:49221458C>T	ENST00000301050.2	+	13	1430	c.1231C>T	c.(1231-1233)Cgc>Tgc	p.R411C	CACNB3_ENST00000547230.1_Missense_Mutation_p.R370C|CACNB3_ENST00000540990.1_Missense_Mutation_p.R398C|CACNB3_ENST00000536187.2_Missense_Mutation_p.R410C|CACNB3_ENST00000547392.1_Missense_Mutation_p.R384C	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	411					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	CGAGAGCTCCCGCCAAGCCTG	0.647000													7	41					0	0	0.307466	0	0
ADAM7	8756	broad.mit.edu	37	8	24324479	24324479	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:24324479C>G	ENST00000175238.6	+	6	640	c.557C>G	c.(556-558)tCt>tGt	p.S186C	RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.S186C|ADAM7_ENST00000441335.2_Missense_Mutation_p.S186C|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	186					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GATAATGAATCTGAAGAAGAC	0.348000													12	84					0	0	0.435327	0	0
LARP1	23367	broad.mit.edu	37	5	154179273	154179273	+	Silent	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr5:154179273C>T	ENST00000336314.4	+	9	1293	c.1269C>T	c.(1267-1269)ctC>ctT	p.L423L		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	500	HTH La-type RNA-binding.						protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCCAGCTTCTCAACTGCCCTG	0.502000													9	88					0	0	0.307466	0	0
KIF14	9928	broad.mit.edu	37	1	200550376	200550376	+	Silent	SNP	T	T	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:200550376T>C	ENST00000367350.4	-	20	3726	c.3288A>G	c.(3286-3288)gaA>gaG	p.E1096E		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1096	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TAGCATTGGCTTCCTGAATCA	0.328000													18	75					0	0	0.557998	0	0
HYPK	25764	broad.mit.edu	37	15	44092849	44092849	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr15:44092849A>T	ENST00000406925.1	+	2	4164	c.53A>T	c.(52-54)gAg>gTg	p.E18V	SERF2_ENST00000600633.1_Missense_Mutation_p.E18V|SERF2_ENST00000594896.1_Missense_Mutation_p.E64V|HYPK_ENST00000498605.1_3'UTR|HYPK_ENST00000442995.2_Missense_Mutation_p.E18V|HYPK_ENST00000458412.1_Missense_Mutation_p.E18V					huntingtin interacting protein K														all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;8.1e-07)		GTGGAGCTGGAGTTGGAGACT	0.632000													9	15					0	0	0.335167	0	0
CCDC34	91057	broad.mit.edu	37	11	27362288	27362288	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:27362288G>A	ENST00000328697.6	-	5	1535	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C	CCDC34_ENST00000529615.1_5'UTR	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	288										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						GCAGCTGGACGAGGTTTATGT	0.348000													6	88					0	0	0.217242	0	0
HPS5	11234	broad.mit.edu	37	11	18318517	18318517	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:18318517G>C	ENST00000396253.3	-	11	1458	c.996C>G	c.(994-996)atC>atG	p.I332M	HPS5_ENST00000349215.3_Missense_Mutation_p.I446M|HPS5_ENST00000438420.2_Missense_Mutation_p.I332M|HPS5_ENST00000531848.1_Missense_Mutation_p.I332M	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	446						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CAGAGTCCAAGATGCTGAAAC	0.343000									Hermansky-Pudlak syndrome				8	57					0	0	0.278610	0	0
MITF	4286	broad.mit.edu	37	3	70014334	70014334	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr3:70014334G>A	ENST00000352241.4	+	10	1661	c.1498G>A	c.(1498-1500)Gga>Aga	p.G500R	MITF_ENST00000394355.2_Missense_Mutation_p.G475R|MITF_ENST00000531774.1_Missense_Mutation_p.G337R|MITF_ENST00000472437.1_Missense_Mutation_p.G448R|MITF_ENST00000394351.3_Missense_Mutation_p.G399R|MITF_ENST00000448226.2_Missense_Mutation_p.G506R|MITF_ENST00000328528.6_Missense_Mutation_p.G499R|MITF_ENST00000314557.6_Missense_Mutation_p.G393R|MITF_ENST00000314589.5_Missense_Mutation_p.G484R	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	506					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		AGTGTCCCCCGGAGCTTCCAA	0.537000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						4	65					0	0	0.150653	0	0
CLEC4F	165530	broad.mit.edu	37	2	71036884	71036884	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:71036884C>T	ENST00000272367.2	-	6	1721	c.1645G>A	c.(1645-1647)Gcc>Acc	p.A549T	CLEC4F_ENST00000426626.1_Missense_Mutation_p.A549T	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	549	C-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TTGTTCTGGGCGGCGTTGAAT	0.557000													11	56					0	0	0.387290	0	0
AARS2	57505	broad.mit.edu	37	6	44279951	44279951	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr6:44279951C>T	ENST00000244571.4	-	2	295	c.293G>A	c.(292-294)gGc>gAc	p.G98D		NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	98					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	ACGTCGGAAGCCTGCCATCTC	0.527000													13	56					0	0	0.435327	0	0
KIAA0368	23392	broad.mit.edu	37	9	114173379	114173379	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr9:114173379G>A	ENST00000259335.4	-	23	2791	c.2792C>T	c.(2791-2793)aCg>aTg	p.T931M	KIAA0368_ENST00000338205.5_Missense_Mutation_p.T753M	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CCTTCCCACCGTGAATCCCAA	0.438000													5	196					0	0	0.184627	0	0
PPIG	9360	broad.mit.edu	37	2	170492733	170492733	+	Silent	SNP	G	G	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:170492733G>T	ENST00000260970.3	+	13	1369	c.1149G>T	c.(1147-1149)ggG>ggT	p.G383G	PPIG_ENST00000448752.2_Silent_p.G383G|PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000409714.3_Silent_p.G368G	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	383					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GGATCAAGGGGGATAAGTAAG	0.353000													12	74					4.36969e-10	4.98418e-10	0.435327	1	0
USP34	9736	broad.mit.edu	37	2	61570972	61570972	+	Silent	SNP	A	A	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:61570972A>G	ENST00000398571.2	-	16	2554	c.2478T>C	c.(2476-2478)atT>atC	p.I826I		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	826					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTTCATGGTAAATGGAAGCTA	0.363000													17	94					0	0	0.557998	0	0
MTG1	92170	broad.mit.edu	37	10	135233650	135233650	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr10:135233650C>T	ENST00000468317.2	+	12	1256	c.1001C>T	c.(1000-1002)cCg>cTg	p.P334L	MTG1_ENST00000317502.6_Missense_Mutation_p.P329L|MTG1_ENST00000477902.2_Missense_Mutation_p.P288L																							GGCCACCCCCCGGCTGAGACT	0.652000													17	61					0	0	0.500413	0	0
CHRM3	1131	broad.mit.edu	37	1	240072485	240072485	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:240072485G>A	ENST00000255380.4	+	5	2513	c.1734G>A	c.(1732-1734)tcG>tcA	p.S578S		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	578					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	AGAGACAGTCGGTCATTTTTC	0.488000													9	49					0	0	0.307466	0	0
SREK1	140890	broad.mit.edu	37	5	65466624	65466624	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr5:65466624C>T	ENST00000334121.6	+	9	1492	c.1333C>T	c.(1333-1335)Cga>Tga	p.R445*	SREK1_ENST00000380918.3_Nonsense_Mutation_p.R329*|SREK1_ENST00000284041.3_3'UTR	NM_001077199.2|NM_001270492.1	NP_001070667.1|NP_001257421.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	329	Arg/Glu/Lys/Ser-rich.				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						tgagaaggatcgagacaaaga	0.413000													3	16					0	0	0.115264	0	0
PDE2A	5138	broad.mit.edu	37	11	72292985	72292985	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:72292985G>A	ENST00000334456.5	-	22	2103	c.1858C>T	c.(1858-1860)Ctg>Ttg	p.L620L	PDE2A_ENST00000418754.2_Silent_p.L505L|PDE2A_ENST00000540345.1_Silent_p.L611L|PDE2A_ENST00000544570.1_Silent_p.L613L|PDE2A_ENST00000444035.2_Silent_p.L611L|PDE2A_ENST00000376450.3_Silent_p.L364L	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	620					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	AGCATGCTCAGGATGGCCTGG	0.577000													8	89					0	0	0.307466	0	0
PKD1	5310	broad.mit.edu	37	16	2166554	2166554	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr16:2166554G>A	ENST00000262304.4	-	8	1906	c.1698C>T	c.(1696-1698)ctC>ctT	p.L566L	PKD1_ENST00000423118.1_Silent_p.L566L	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	566					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCGGGGCTGAGAGGCCGTCCT	0.711000													2	2					0	0	0.115264	0	0
KCND2	3751	broad.mit.edu	37	7	120385968	120385968	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr7:120385968C>G	ENST00000331113.4	+	5	2567	c.1602C>G	c.(1600-1602)caC>caG	p.H534Q		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	534					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CACGACGACACAAAAAAACTT	0.448000													7	55					0	0	0.248553	0	0
GPM6A	2823	broad.mit.edu	37	4	176573064	176573064	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr4:176573064C>G	ENST00000280187.7	-	5	507	c.462G>C	c.(460-462)atG>atC	p.M154I	GPM6A_ENST00000393658.2_Missense_Mutation_p.M154I|GPM6A_ENST00000515090.1_Missense_Mutation_p.M147I|GPM6A_ENST00000506894.1_Missense_Mutation_p.M143I	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	154						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		GATTGAAGTACATGTAAACTG	0.458000													3	49					0	0	0.115264	0	0
BSN	8927	broad.mit.edu	37	3	49690316	49690316	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr3:49690316G>A	ENST00000296452.4	+	5	3441	c.3327G>A	c.(3325-3327)ctG>ctA	p.L1109L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1109					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)		CGGAGGAGCTGAGGCAGGCGG	0.642000													13	91					0	0	0.411799	0	0
TYW1B	441250	broad.mit.edu	37	7	72159743	72159743	+	RNA	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr7:72159743G>A	ENST00000438125.1	-	0	1053							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GTGGGCGGTCGATTTTCTTCA	0.388000													8	68					0	0	0.307466	0	0
LRRC37BP1	147172	broad.mit.edu	37	17	28964242	28964242	+	RNA	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr17:28964242G>A	ENST00000417404.1	+	0	4500				SMURF2P1_ENST00000578265.1_RNA																							AACCTTAATTGTGTTTTCTTC	0.353000													4	54					0	0	0.150653	0	0
COL14A1	7373	broad.mit.edu	37	8	121216036	121216036	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:121216036G>A	ENST00000297848.3	+	9	1236	c.966G>A	c.(964-966)ctG>ctA	p.L322L	COL14A1_ENST00000247781.3_Silent_p.L227L|COL14A1_ENST00000537875.1_Silent_p.L322L|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.L322L	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	322	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AATTCGATCTGATGCACACAG	0.483000													4	42					0	0	0.184627	0	0
TMEM132B	114795	broad.mit.edu	37	12	126128737	126128737	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:126128737G>A	ENST00000299308.3	+	6	1546	c.1538G>A	c.(1537-1539)tGg>tAg	p.W513*	TMEM132B_ENST00000535886.1_Nonsense_Mutation_p.W25*	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	513						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTCACTGTCTGGGCACCCAGG	0.537000													5	44					0	0	0.184627	0	0
PEX1	5189	broad.mit.edu	37	7	92138667	92138667	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr7:92138667G>A	ENST00000248633.4	-	9	1741	c.1646C>T	c.(1645-1647)cCt>cTt	p.P549L	PEX1_ENST00000541751.1_Intron|PEX1_ENST00000438045.1_Missense_Mutation_p.P227L|PEX1_ENST00000428214.1_Missense_Mutation_p.P549L	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	549					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CTTTAAAAAAGGAAGAATAAA	0.333000													9	45					0	0	0.335167	0	0
ADAM2	2515	broad.mit.edu	37	8	39626980	39626980	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:39626980G>C	ENST00000265708.4	-	12	1246	c.1143C>G	c.(1141-1143)ttC>ttG	p.F381L	ADAM2_ENST00000521880.1_Missense_Mutation_p.F381L|ADAM2_ENST00000347580.4_Missense_Mutation_p.F362L|ADAM2_ENST00000379853.2_Missense_Mutation_p.F255L	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	381					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTTGCTGTTTGAAAAAAGGAT	0.443000													3	52					0	0	0.115264	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29417365	29417365	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chrX:29417365A>G	ENST00000378993.1	+	5	1316	c.643A>G	c.(643-645)Acc>Gcc	p.T215A	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.T215A	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	215	Ig-like C2-type 2.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGGAAATTATACCTGTGAATT	0.343000													8	28					0	0	0.278610	0	0
SALL4	57167	broad.mit.edu	37	20	50407919	50407919	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr20:50407919G>A	ENST00000217086.4	-	2	1214	c.1103C>T	c.(1102-1104)gCg>gTg	p.A368V	SALL4_ENST00000395997.3_Missense_Mutation_p.A368V|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	368					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GACATCCACCGCGGAGATGTT	0.562000													8	56					0	0	0.361761	0	0
PTPRB	5787	broad.mit.edu	37	12	70929923	70929923	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:70929923C>A	ENST00000334414.6	-	29	6007	c.5963G>T	c.(5962-5964)aGa>aTa	p.R1988I	PTPRB_ENST00000538708.1_Missense_Mutation_p.R1680I|RP11-588H23.3_ENST00000549460.1_RNA|RP11-588H23.3_ENST00000548687.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000261266.5_Missense_Mutation_p.R1770I|PTPRB_ENST00000451516.2_Missense_Mutation_p.R1680I|PTPRB_ENST00000550358.1_Missense_Mutation_p.R1900I|PTPRB_ENST00000550857.1_Missense_Mutation_p.R1680I|RP11-588H23.3_ENST00000547656.1_RNA	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1770					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AATGTATTCTCTTCTGAAGTT	0.428000													3	23					2.56e-06	2.81729e-06	0.150653	1	0
EPHA6	285220	broad.mit.edu	37	3	96706382	96706382	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr3:96706382A>G	ENST00000389672.5	+	3	697	c.659A>G	c.(658-660)aAt>aGt	p.N220S	EPHA6_ENST00000542517.1_Missense_Mutation_p.N126S|EPHA6_ENST00000470610.2_Missense_Mutation_p.N220S	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	125						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GAAACATTTAATCTGTTTTAT	0.398000													10	161					0	0	0.335167	0	0
CPSF6	11052	broad.mit.edu	37	12	69652584	69652584	+	Silent	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:69652584C>T	ENST00000435070.2	+	6	1019	c.909C>T	c.(907-909)taC>taT	p.Y303Y	CPSF6_ENST00000266679.8_Silent_p.Y340Y|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Silent_p.Y230Y	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	303	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			TTCCAGGCTACGGCCCCCCTC	0.637000													6	69					0	0	0.248553	0	0
CPAMD8	27151	broad.mit.edu	37	19	17038880	17038880	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:17038880G>A	ENST00000443236.1	-	25	3481	c.3450C>T	c.(3448-3450)ttC>ttT	p.F1150F		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1103						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCCCCAGGGTGAAGGCCTCGC	0.632000													6	57					0	0	0.248553	0	0
MYH1	4619	broad.mit.edu	37	17	10418213	10418213	+	Splice_Site	SNP	C	C	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr17:10418213C>G	ENST00000226207.5	-	6	600		c.e6-1		CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult							muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTCTCCCGATCTAGAAGAAAA	0.328000													3	80					0	0	0.184627	0	0
ATP9B	374868	broad.mit.edu	37	18	76873289	76873289	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr18:76873289A>T	ENST00000426216.2	+	4	510	c.493A>T	c.(493-495)Ata>Tta	p.I165L	ATP9B_ENST00000586722.1_Missense_Mutation_p.I165L|ATP9B_ENST00000458297.2_Missense_Mutation_p.I113L|ATP9B_ENST00000591464.1_Intron|ATP9B_ENST00000307671.7_Missense_Mutation_p.I165L	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	165					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TTTTCTAGTAATATCCTGCTC	0.294000													6	34					0	0	0.217242	0	0
TROAP	10024	broad.mit.edu	37	12	49721061	49721061	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:49721061G>A	ENST00000551245.1	+	8	950	c.839G>A	c.(838-840)gGt>gAt	p.G280D	TROAP_ENST00000257909.3_Missense_Mutation_p.G280D|TROAP_ENST00000547923.1_5'UTR			Q12815	TROAP_HUMAN	trophinin associated protein	280					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GCCTCTCTTGGTCTGGCCCAG	0.512000													12	61					0	0	0.411799	0	0
GNB1L	54584	broad.mit.edu	37	22	19808242	19808242	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr22:19808242G>A	ENST00000329517.6	-	4	369	c.133C>T	c.(133-135)Cag>Tag	p.Q45*	GNB1L_ENST00000403325.1_Nonsense_Mutation_p.Q45*|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000405009.1_Nonsense_Mutation_p.Q45*	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	45					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					AGGCCACTCTGAGACCTGTTT	0.642000													7	57					0	0	0.278610	0	0
RP1L1	94137	broad.mit.edu	37	8	10469745	10469745	+	Silent	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:10469745C>T	ENST00000382483.3	-	4	2086	c.1863G>A	c.(1861-1863)tcG>tcA	p.S621S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	621					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGGCTCCTTCCGAGTCCCAGG	0.647000													5	64					0	0	0.184627	0	0
CLK3	1198	broad.mit.edu	37	15	74919948	74919948	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr15:74919948C>A	ENST00000395066.3	+	9	1886	c.1425C>A	c.(1423-1425)gaC>gaA	p.D475E	CLK3_ENST00000352989.5_Missense_Mutation_p.D304E|CLK3_ENST00000345005.4_Missense_Mutation_p.D327E|CLK3_ENST00000348245.3_3'UTR	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	475	Protein kinase.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						CCACATTTGACCATGAGCACC	0.562000													33	110					9.17885e-22	1.08074e-21	0.779181	1	0
DNAH5	1767	broad.mit.edu	37	5	13891111	13891111	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr5:13891111A>T	ENST00000265104.4	-	17	2655	c.2551T>A	c.(2551-2553)Tgt>Agt	p.C851S	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	851	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)					AACTCTTCACAGGTTAGTGGC	0.393000									Kartagener syndrome				10	152					0	0	0.435327	0	0
ZNF75D	7626	broad.mit.edu	37	X	134421749	134421749	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chrX:134421749C>T	ENST00000370766.3	-	7	3562	c.853G>A	c.(853-855)Gat>Aat	p.D285N	ZNF75D_ENST00000370764.1_Missense_Mutation_p.D190N|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	285	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						ATAGGATGATCATTTCCAGTG	0.363000													4	38					0	0	0.150653	0	0
CABLES1	91768	broad.mit.edu	37	18	20837210	20837210	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr18:20837210G>A	ENST00000256925.7	+	10	1781	c.1781G>A	c.(1780-1782)cGg>cAg	p.R594Q	CABLES1_ENST00000400473.2_Missense_Mutation_p.R267Q|CABLES1_ENST00000585061.1_Intron|CABLES1_ENST00000420687.2_Missense_Mutation_p.R329Q|RP11-17J14.2_ENST00000585184.1_RNA|TMEM241_ENST00000450466.2_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	594					blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAGAAGTTCCGGCTGAACAGG	0.448000													8	75					0	0	0.335167	0	0
CATSPERG	57828	broad.mit.edu	37	19	38849158	38849158	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:38849158T>C	ENST00000409235.3	+	13	1568	c.1453T>C	c.(1453-1455)Tac>Cac	p.Y485H	CATSPERG_ENST00000215069.4_Missense_Mutation_p.Y478H|CATSPERG_ENST00000410018.1_Missense_Mutation_p.Y445H	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	485					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CTGTAACCCGTACAACAATCT	0.562000													13	70					0	0	0.411799	0	0
FRMPD1	22844	broad.mit.edu	37	9	37735705	37735705	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr9:37735705G>A	ENST00000539465.1	+	13	1968	c.1375G>A	c.(1375-1377)Gtc>Atc	p.V459I	FRMPD1_ENST00000536622.1_Missense_Mutation_p.V281I|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.V459I|FRMPD1_ENST00000541302.1_Missense_Mutation_p.V328I			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	459	FERM.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGTGAGCGTCGTCAAAGTGTA	0.453000													7	29					0	0	0.278610	0	0
FAM111A	63901	broad.mit.edu	37	11	58919457	58919457	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:58919457A>T	ENST00000528737.1	+	5	3134	c.316A>T	c.(316-318)Atg>Ttg	p.M106L	FAM111A_ENST00000420244.1_Missense_Mutation_p.M106L|FAM111A_ENST00000361723.3_Missense_Mutation_p.M106L|FAM111A_ENST00000531147.1_Missense_Mutation_p.M106L|FAM111A_ENST00000533703.1_Missense_Mutation_p.M106L			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	106					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TAGCTTATATATGGCTCTCAA	0.403000													6	41					0	0	0.217242	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967396	41967396	+	Missense_Mutation	SNP	C	C	T	rs144265671		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:41967396C>T	ENST00000298919.7	+	10	2423	c.2035C>T	c.(2035-2037)Cgc>Tgc	p.R679C	PDZRN4_ENST00000539469.2_Missense_Mutation_p.R681C|PDZRN4_ENST00000402685.2_Missense_Mutation_p.R939C			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	939							ubiquitin-protein ligase activity|zinc ion binding	p.R681C(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAAAATGGGGCGCTACTGGAG	0.542000													9	31					0	0	0.335167	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450642	105450642	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chrX:105450642G>A	ENST00000337685.2	+	5	2002	c.1217G>A	c.(1216-1218)tGg>tAg	p.W406*	MUM1L1_ENST00000372552.1_Nonsense_Mutation_p.W406*|MUM1L1_ENST00000357175.2_Nonsense_Mutation_p.W406*	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	406	PWWP.									autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TATCCATTTTGGCCAGCAGTG	0.368000													4	4					0	0	0.150653	0	0
MGP	4256	broad.mit.edu	37	12	15035947	15035947	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:15035947G>A	ENST00000539261.1	-	3	263	c.129C>T	c.(127-129)ttC>ttT	p.F43F	MGP_ENST00000228938.5_Silent_p.F68F|C12orf60_ENST00000527783.1_Intron	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	43					cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						GAGGGGATATGAAGGTATTTG	0.383000													7	60					0	0	0.278610	0	0
AMBP	259	broad.mit.edu	37	9	116823281	116823281	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr9:116823281G>A	ENST00000265132.3	-	9	1213	c.951C>T	c.(949-951)taC>taT	p.Y317Y		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	317	BPTI/Kunitz inhibitor 2.				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GGCAGCCCCCGTAGGGGAAGA	0.622000													6	105					0	0	0.217242	0	0
MCM4	4173	broad.mit.edu	37	8	48882491	48882491	+	Silent	SNP	A	A	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:48882491A>C	ENST00000262105.2	+	10	1517	c.1308A>C	c.(1306-1308)gcA>gcC	p.A436A	MCM4_ENST00000518680.1_3'UTR|MCM4_ENST00000523944.1_Silent_p.A436A	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	436					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				ATGAAGAAGCAGAACAGAAAC	0.423000													29	115					0	0	0.706142	0	0
HECW2	57520	broad.mit.edu	37	2	197105285	197105285	+	Splice_Site	SNP	A	A	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:197105285A>G	ENST00000260983.2	-	21	3834	c.3650_splice	c.e21-1	p.L1218_splice	HECW2_ENST00000409111.1_Splice_Site_p.L862_splice	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1218					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CGGATAATTAACCTGTCCATA	0.308000													10	50					0	0	0.335167	0	0
THBS1	7057	broad.mit.edu	37	15	39874946	39874946	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr15:39874946A>G	ENST00000260356.5	+	3	785	c.620A>G	c.(619-621)aAt>aGt	p.N207S		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	207	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GTCAATGACAATTTCCAGGTG	0.552000													3	30					0	0	0.115264	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481807	142481807	+	RNA	SNP	C	C	T	rs4726591	by1000genomes	TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr7:142481807C>T	ENST00000603901.1	+	0	486					NR_001296.3																						AGTGCCTGGACGCTCCTGTGC	0.502000													3	31					0	0	0.150653	0	0
DNAH17	8632	broad.mit.edu	37	17	76420210	76420210	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr17:76420210C>G	ENST00000389840.5	-	81	13359	c.13235G>C	c.(13234-13236)gGa>gCa	p.G4412A	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.G4384A|PGS1_ENST00000329897.7_3'UTR|PGS1_ENST00000262764.6_3'UTR|PGS1_ENST00000588281.1_3'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGCGATGACTCCAGTCTGGGT	0.607000													7	34					0	0	0.248553	0	0
PRSS16	10279	broad.mit.edu	37	6	27219033	27219033	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr6:27219033G>C	ENST00000230582.3	+	7	722	c.707G>C	c.(706-708)gGg>gCg	p.G236A	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	236					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCGATCGGCGGGTCCCTGGAG	0.657000													11	42					0	0	0.411799	0	0
PRKG1	5592	broad.mit.edu	37	10	54053631	54053631	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr10:54053631G>C	ENST00000373980.4	+	18	2449	c.2032G>C	c.(2032-2034)Gac>Cac	p.D678H	PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000401604.2_Missense_Mutation_p.D663H|PRKG1_ENST00000373975.2_Missense_Mutation_p.D381H|PRKG1_ENST00000373985.1_Missense_Mutation_p.D651H|PRKG1-AS1_ENST00000426785.2_RNA	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	663					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		ACCACCTGATGACAACTCAGG	0.433000													8	60					0	0	0.278610	0	0
RYR2	6262	broad.mit.edu	37	1	237777871	237777871	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:237777871G>A	ENST00000366574.2	+	37	5760	c.5443G>A	c.(5443-5445)Gaa>Aaa	p.E1815K	RYR2_ENST00000360064.6_Missense_Mutation_p.E1813K|RYR2_ENST00000542537.1_Missense_Mutation_p.E1799K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1815	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGGACTACTGAATTCCTCTT	0.483000													26	202					0	0	0.693898	0	0
GOPC	57120	broad.mit.edu	37	6	117896462	117896462	+	Silent	SNP	T	T	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr6:117896462T>C	ENST00000535237.1	-	4	757	c.528A>G	c.(526-528)gaA>gaG	p.E176E	GOPC_ENST00000368498.2_Silent_p.E176E|GOPC_ENST00000052569.6_Silent_p.E168E					golgi-associated PDZ and coiled-coil motif containing										GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		TCACTTCAGCTTCAAGTTGTG	0.348000			O	ROS1	glioblastoma								6	34					0	0	0.217242	0	0
IL13	3596	broad.mit.edu	37	5	131993989	131993989	+	Silent	SNP	G	G	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr5:131993989G>T	ENST00000304506.3	+	1	125	c.111G>T	c.(109-111)gtG>gtT	p.V37V	IL13_ENST00000468334.1_Intron|AC004041.2_ENST00000435042.1_RNA	NM_002188.2	NP_002179.2	P35225	IL13_HUMAN	interleukin 13	37					cellular component movement|immune response|inflammatory response|signal transduction	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)|ovary(1)|skin(3)	6		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGGCCCTGTGCCTCCCTCTA	0.592000													10	28					0.000442599	0.000461568	0.335167	1	0
STAR	6770	broad.mit.edu	37	8	38003513	38003513	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:38003513G>A	ENST00000276449.4	-	5	1064	c.618C>T	c.(616-618)ttC>ttT	p.F206F		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	206	START.				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GCATGTTCCCGAAGTCTGTGG	0.617000													6	128					0	0	0.248553	0	0
MKI67	4288	broad.mit.edu	37	10	129905202	129905202	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr10:129905202C>G	ENST00000368654.3	-	13	5277	c.4902G>C	c.(4900-4902)aaG>aaC	p.K1634N	MKI67_ENST00000368653.3_Missense_Mutation_p.K1274N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1634	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCAGGGATGTCTTGAGCCGTC	0.502000													8	177					0	0	0.278610	0	0
THUMPD3	25917	broad.mit.edu	37	3	9426231	9426231	+	Silent	SNP	A	A	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr3:9426231A>G	ENST00000345094.3	+	10	1717	c.1383A>G	c.(1381-1383)gtA>gtG	p.V461V	THUMPD3_ENST00000452837.2_Silent_p.V461V|THUMPD3_ENST00000515662.2_Silent_p.V461V|SETD5-AS1_ENST00000468186.1_RNA	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	461							methyltransferase activity|protein binding|RNA binding			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		TGCGACACGTATGGCGAAAGG	0.418000													34	108					0	0	0.788014	0	0
NUP160	23279	broad.mit.edu	37	11	47823375	47823375	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:47823375C>A	ENST00000378460.2	-	23	2929	c.2883G>T	c.(2881-2883)caG>caT	p.Q961H	NUP160_ENST00000528071.1_Missense_Mutation_p.Q847H|NUP160_ENST00000530326.1_Missense_Mutation_p.Q847H	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	961					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TGTCATAATACTGCAGCCTGG	0.423000													7	43					0.00198382	0.0020397	0.248553	1	0
GLG1	2734	broad.mit.edu	37	16	74537551	74537551	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr16:74537551G>A	ENST00000422840.2	-	4	651	c.652C>T	c.(652-654)Cag>Tag	p.Q218*	GLG1_ENST00000447066.2_Nonsense_Mutation_p.Q207*|GLG1_ENST00000205061.5_Nonsense_Mutation_p.Q218*	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	218						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GTAATGTACTGGTGACACTGA	0.423000													21	104					0	0	0.592651	0	0
ANKMY1	51281	broad.mit.edu	37	2	241463753	241463753	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:241463753T>C	ENST00000391987.1	-	8	1480	c.1114A>G	c.(1114-1116)Atg>Gtg	p.M372V	ANKMY1_ENST00000405523.3_Missense_Mutation_p.M231V|ANKMY1_ENST00000405002.1_Missense_Mutation_p.M142V|ANKMY1_ENST00000403283.1_Missense_Mutation_p.M310V|ANKMY1_ENST00000401804.1_Missense_Mutation_p.M461V|ANKMY1_ENST00000373318.2_Missense_Mutation_p.M231V|ANKMY1_ENST00000373320.4_Missense_Mutation_p.M142V|ANKMY1_ENST00000361678.4_Missense_Mutation_p.M231V|ANKMY1_ENST00000406958.1_Missense_Mutation_p.M231V|ANKMY1_ENST00000272972.3_Missense_Mutation_p.M372V|ANKMY1_ENST00000536462.1_Missense_Mutation_p.M184V			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	372							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TTTGTGTCCATAAATGATGAT	0.463000													16	75					0	0	0.539581	0	0
ZNF749	388567	broad.mit.edu	37	19	57955191	57955191	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:57955191G>A	ENST00000334181.4	+	3	925	c.675G>A	c.(673-675)gaG>gaA	p.E225E	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GGCCTTATGAGTTCAGTGAAT	0.428000													13	56					0	0	0.435327	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456159	5456159	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:5456159G>A	ENST00000222033.4	+	1	734	c.657G>A	c.(655-657)tcG>tcA	p.S219S		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	219	PA.					integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		AGGCCGCCTCGCAGGACCTGC	0.667000													11	77					0	0	0.387290	0	0
ELAVL2	1993	broad.mit.edu	37	9	23731115	23731115	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr9:23731115A>T	ENST00000397312.2	-	3	512	c.238T>A	c.(238-240)Ttg>Atg	p.L80M	ELAVL2_ENST00000223951.6_Missense_Mutation_p.L80M|ELAVL2_ENST00000380117.1_Missense_Mutation_p.L80M|ELAVL2_ENST00000544538.1_Missense_Mutation_p.L80M|ELAVL2_ENST00000380110.4_Missense_Mutation_p.L109M	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	80	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CCATATCCCAAGCTCTGCCCT	0.383000													8	18					0	0	0.335167	0	0
HCG17	414778	broad.mit.edu	37	6	30231252	30231252	+	RNA	SNP	C	C	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr6:30231252C>A	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA																							TTCCAGGGCTCTTTCTTGGAT	0.428000													9	69					3.09899e-07	3.4804e-07	0.307466	1	0
KIAA2018	205717	broad.mit.edu	37	3	113377897	113377897	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr3:113377897C>T	ENST00000316407.4	-	7	3042	c.2632G>A	c.(2632-2634)Gag>Aag	p.E878K	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.E878K	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	878	Ser-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GATACAGACTCAGGTATTAAT	0.438000													40	95					0	0	0.819951	0	0
RFPL3	10738	broad.mit.edu	37	22	32756539	32756539	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr22:32756539G>A	ENST00000249007.4	+	2	879	c.674G>A	c.(673-675)cGc>cAc	p.R225H	RFPL3_ENST00000397468.1_Missense_Mutation_p.R196H|RFPL3S_ENST00000382084.4_3'UTR|RFPL3S_ENST00000400234.1_3'UTR|RFPL3_ENST00000382088.3_Missense_Mutation_p.R196H	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	225	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GATGGAAGCCGCCTCTCTGCC	0.527000													15	71					0	0	0.500413	0	0
BAGE2	85319	broad.mit.edu	37	21	11058340	11058340	+	RNA	SNP	A	A	C	rs28617310	by1000genomes	TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr21:11058340A>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGGTAAAGGAGAGAAATCTC	0.363000													6	142					0	0	0.217242	0	0
OR4D1	26689	broad.mit.edu	37	17	56233093	56233093	+	Silent	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr17:56233093C>T	ENST00000268912.5	+	1	600	c.579C>T	c.(577-579)tcC>tcT	p.S193S		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						CTGATACCTCCCTCCTGGAGT	0.493000													36	48					0	0	0.796494	0	0
ZNF69	7620	broad.mit.edu	37	19	12014459	12014459	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:12014459G>A	ENST00000429654.2	+	2	275	c.135G>A	c.(133-135)caG>caA	p.Q45Q	ZNF69_ENST00000340180.5_Silent_p.Q31Q			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	45	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		ATATTTCCCAGAGGAAACTCT	0.478000													12	88					0	0	0.387290	0	0
ZNF623	9831	broad.mit.edu	37	8	144732947	144732947	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:144732947A>T	ENST00000501748.2	+	1	994	c.905A>T	c.(904-906)cAt>cTt	p.H302L	ZNF623_ENST00000526926.1_Missense_Mutation_p.H262L|ZNF623_ENST00000458270.2_Missense_Mutation_p.H262L	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCATTCCGTCATCGCTCAGAC	0.453000													13	47					0	0	0.435327	0	0
DPP6	1804	broad.mit.edu	37	7	154379648	154379648	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr7:154379648A>G	ENST00000406326.1	+	6	1319	c.916A>G	c.(916-918)Agg>Ggg	p.R306G	DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CAATGGCACCAGGCTTCGCAG	0.582000													15	92					0	0	0.479597	0	0
SLC12A7	10723	broad.mit.edu	37	5	1057669	1057669	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr5:1057669C>A	ENST00000264930.5	-	22	2986	c.2943G>T	c.(2941-2943)tgG>tgT	p.W981C		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	981					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCTCCCTGGTCCAGGTCATCT	0.617000													11	204					1.58986e-06	1.76741e-06	0.361761	1	0
RAPGEF5	9771	broad.mit.edu	37	7	22202079	22202079	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr7:22202079G>T	ENST00000344041.6	-	13	1217	c.905C>A	c.(904-906)tCc>tAc	p.S302Y	RAPGEF5_ENST00000401957.2_Missense_Mutation_p.S152Y	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	152					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						AATCCACTGGGAAACAAGATG	0.368000													4	63					2.56e-06	2.81729e-06	0.150653	1	0
IMPG1	3617	broad.mit.edu	37	6	76660707	76660707	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr6:76660707C>A	ENST00000369950.3	-	13	1585	c.1396G>T	c.(1396-1398)Gat>Tat	p.D466Y	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	466					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GCCATTGTATCTGTGGTGCCT	0.502000													7	57					0.248553	0.250843	0.248553	1	0
LEPR	3953	broad.mit.edu	37	1	66036308	66036308	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:66036308G>T	ENST00000349533.6	+	4	378	c.193G>T	c.(193-195)Gag>Tag	p.E65*	LEPR_ENST00000371058.1_Nonsense_Mutation_p.E65*|LEPR_ENST00000371059.3_Nonsense_Mutation_p.E65*|LEPR_ENST00000371060.3_Nonsense_Mutation_p.E65*|LEPR_ENST00000344610.8_Nonsense_Mutation_p.E65*|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_5'UTR	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	65					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGGACATTATGAGACAGCTGT	0.378000													4	103					0.00909568	0.0092649	0.150653	1	0
CPSF1	29894	broad.mit.edu	37	8	145621932	145621932	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:145621932C>A	ENST00000349769.3	-	25	2801	c.2707G>T	c.(2707-2709)Gag>Tag	p.E903*		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	903					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGCTTCTTCTCACGGAAGTTG	0.642000													33	99					8.16277e-20	9.55961e-20	0.827153	1	0
ZNFX1	57169	broad.mit.edu	37	20	47888006	47888006	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr20:47888006G>A	ENST00000396105.1	-	3	589	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	ZNFX1_ENST00000371754.4_Missense_Mutation_p.R115C|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R115C	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	115							metal ion binding	p.R115S(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGTGGTCTGCGGTTCCTACAG	0.557000													19	244					0	0	0.539581	0	0
DOCK11	139818	broad.mit.edu	37	X	117775257	117775257	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chrX:117775257C>T	ENST00000276204.6	+	39	4323	c.4249C>T	c.(4249-4251)Cag>Tag	p.Q1417*	DOCK11_ENST00000276202.7_Nonsense_Mutation_p.Q1417*			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1417					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						ATTTTTCACTCAGTGCTTCAA	0.378000													6	36					0	0	0.217242	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823566	38823566	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr22:38823566G>A	ENST00000303592.3	-	2	830	c.572C>T	c.(571-573)gCg>gTg	p.A191V		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	191					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CGAAATGACCGCGTGGTGGCT	0.637000													4	30					0	0	0.150653	0	0
GBP4	115361	broad.mit.edu	37	1	89657032	89657032	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:89657032G>A	ENST00000355754.6	-	6	925	c.828C>T	c.(826-828)ttC>ttT	p.F276F		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	276						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		ATTGCATAAGGAAATGCCTTT	0.413000													9	87					0	0	0.307466	0	0
CCDC158	339965	broad.mit.edu	37	4	77276585	77276585	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr4:77276585C>A	ENST00000388914.3	-	14	2330	c.2178G>T	c.(2176-2178)atG>atT	p.M726I		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	726										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTGCCACTTTCATAGCTGGAA	0.383000													31	110					1.80694e-10	2.07184e-10	0.740014	1	0
DGKB	1607	broad.mit.edu	37	7	14378214	14378214	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr7:14378214C>T	ENST00000403951.2	-	23	2470	c.2051G>A	c.(2050-2052)cGa>cAa	p.R684Q	DGKB_ENST00000258767.5_Missense_Mutation_p.R684Q|DGKB_ENST00000399322.3_Missense_Mutation_p.R684Q|DGKB_ENST00000444700.2_Missense_Mutation_p.R665Q|DGKB_ENST00000402815.1_Missense_Mutation_p.R683Q|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Missense_Mutation_p.R676Q|DGKB_ENST00000406247.3_Missense_Mutation_p.R684Q			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	684					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CTCTATTCGTCGATGGCTTCG	0.393000													4	89					0	0	0.184627	0	0
FAM46C	54855	broad.mit.edu	37	1	118166445	118166445	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:118166445G>T	ENST00000369448.3	+	2	1202	c.955G>T	c.(955-957)Gtg>Ttg	p.V319L		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	319										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CGAGAGCACCGTGTGTCTCAT	0.537000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)			12	43					1.61879e-10	1.86587e-10	0.411799	1	0
MIF4GD	57409	broad.mit.edu	37	17	73264171	73264171	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr17:73264171A>T	ENST00000577542.1	-	4	570	c.308T>A	c.(307-309)aTc>aAc	p.I103N	MIF4GD_ENST00000325102.8_Missense_Mutation_p.I62N|MIF4GD_ENST00000245551.5_Missense_Mutation_p.I96N|MIF4GD_ENST00000579119.1_Missense_Mutation_p.I62N|MIF4GD_ENST00000578305.1_Intron|MIF4GD_ENST00000580571.1_Missense_Mutation_p.I62N|MIF4GD_ENST00000579297.1_Missense_Mutation_p.I103N			A9UHW6	MI4GD_HUMAN	MIF4G domain containing	62	MIF4G.				regulation of translation|RNA metabolic process	cytoplasm|nucleus	protein C-terminus binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			AACCTGAATGATGGCGTAGCA	0.562000													6	42					0	0	0.248553	0	0
GBP3	2635	broad.mit.edu	37	1	89476691	89476693	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:89476691_89476693delCTT	ENST00000370481.4	-	8	1476_1478	c.1256_1258delAAG	c.(1255-1260)gtg>g	p.EV419del		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	419						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		CCCGCCTTCACTTCTTCTTCTAG	0.419													33	223	---	---	---	---					
SUN1	23353	broad.mit.edu	37	7	883110	883110	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr7:883110delC	ENST00000456758.2	+	8	785	c.785delC	c.(784-786)gcfs	p.A262fs	SUN1_ENST00000452783.2_Intron|SUN1_ENST00000425407.2_Frame_Shift_Del_p.A154fs|SUN1_ENST00000403868.1_Frame_Shift_Del_p.A204fs|SUN1_ENST00000401592.1_Frame_Shift_Del_p.A204fs|SUN1_ENST00000457378.2_Frame_Shift_Del_p.A225fs|SUN1_ENST00000389574.3_Frame_Shift_Del_p.A154fs|SUN1_ENST00000405266.1_Frame_Shift_Del_p.A204fs			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	204	EMD-binding.|SYNE2-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CACCCCGCGGCCCCCGGGCCC	0.557													81	263	---	---	---	---					
LURAP1L	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	-	GGCGGCGGC	rs3833707	by1000genomes	TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr9:12775861_12775862insGGCGGCGGC	ENST00000319264.3	+	1	842_843	c.147_148insGGCGGCGGC	c.(145-150)gggcgg>ggGGCGGCGGCgcgg	p.49_50GR>GAAAR	LURAP1L_ENST00000489107.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN	leucine rich adaptor protein 1-like	49	Gly-rich.		Missing.					p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688													4	5	---	---	---	---					
OR4S2	219431	broad.mit.edu	37	11	55418983	55419001	+	Frame_Shift_Del	DEL	GGTACCATTGCTCTGGGGA	GGTACCATTGCTCTGGGGA	-	rs139625934	byFrequency	TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:55418983_55419001delGGTACCATTGCTCTGGGGA	ENST00000312422.2	+	1	604_622	c.604_622delGGTACCATTGCTCTGGGGA	c.(604-624)gtfs	p.GTIALGS202fs		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T203T(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				AGCCAACAGTGGTACCATTGCTCTGGGGAGTTTTGTTAT	0.475													18	127	---	---	---	---					
KRT3	3850	broad.mit.edu	37	12	53189414	53189431	+	In_Frame_Del	DEL	CCAAAGCCACCAGCCCCT	CCAAAGCCACCAGCCCCT	-	rs142692092	by1000genomes	TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:53189414_53189431delCCAAAGCCACCAGCCCCT	ENST00000417996.2	-	1	470_487	c.396_413delAGGGGCTGGTGGCTTTGG	c.(394-414)ggt>gg	p.GGAGGFG132del	KRT3_ENST00000309505.3_In_Frame_Del_p.GGAGGFG132del	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	132	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						accaggaccaccaaagccaccagcccctccaaagccac	0.633													4	7	---	---	---	---					
SLC24A1	9187	broad.mit.edu	37	15	65918177	65918179	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr15:65918177_65918179delCTG	ENST00000261892.6	+	2	2046_2048	c.1759_1761delCTG	c.(1759-1761)del	p.L591del	SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	591					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTGGGAGAGCCTGCTGCTGCTGC	0.547													10	93	---	---	---	---					
SMG1	23049	broad.mit.edu	37	16	18840818	18840819	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr16:18840818_18840819delTT	ENST00000446231.2	-	54	9804_9805	c.9392_9393delAA	c.(9391-9393)afs	p.K3131fs	SMG1_ENST00000389467.3_Frame_Shift_Del_p.K3131fs			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3131					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CAACAGAAACTTTGCTTTCGGC	0.465													10	49	---	---	---	---					
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929	by1000genomes	TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgt>cg	p.RPLCCQTTCHPSCGMSSCCR85del				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10).			keratin filament		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646													28	39	---	---	---	---					
AP003900.6	0	broad.mit.edu	37	21	11180761	11180762	+	RNA	INS	-	-	T	rs150288525		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr21:11180761_11180762insT	ENST00000603265.1	+	0	231																											aaACTAACTTCTTTTTTTTTTT	0.347													5	5	---	---	---	---					
RBMY2EP	159125	broad.mit.edu	37	Y	23563322	23563323	+	RNA	DEL	AC	AC	-			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chrY:23563322_23563323delAC	ENST00000444169.1	-	0	86					NR_001574.2																						ATATGAAAATacacacacacac	0.302													5	10	---	---	---	---