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
SLC22A7	10864	broad.mit.edu	37	6	43267656	43267656	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr6:43267656G>C	ENST00000372585.5	+	5	774	c.679G>C	c.(679-681)Gag>Cag	p.E227Q	SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372589.3_Missense_Mutation_p.E225Q|SLC22A7_ENST00000372574.3_Missense_Mutation_p.E225Q	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	227						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GCTGGATGTGGAGCACCGCAC	0.607000													17	42					0	0	0.007413	0	0
KPTN	11133	broad.mit.edu	37	19	47984035	47984035	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr19:47984035A>G	ENST00000338134.3	-	6	688	c.581T>C	c.(580-582)cTg>cCg	p.L194P	KPTN_ENST00000536339.1_5'UTR|KPTN_ENST00000595484.1_5'UTR	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	194					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		CAGGTTCGTCAGCTCTGGGAA	0.587000													25	101					0	0	0.004656	0	0
ORAI1	84876	broad.mit.edu	37	12	122079507	122079507	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr12:122079507C>G	ENST00000330079.7	+	2	1063	c.870C>G	c.(868-870)caC>caG	p.H290Q		NM_032790.3	NP_116179.2	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	288					platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		AGCTGGACCACAGAGGGGACC	0.612000													19	62					0	0	0.007413	0	0
CROCCP2	84809	broad.mit.edu	37	1	16959603	16959603	+	RNA	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr1:16959603G>A	ENST00000412962.1	-	0	74																											CTGCAGTGACGCCTGCCTCAT	0.602000													3	23					0	0	0.004672	0	0
CASZ1	54897	broad.mit.edu	37	1	10699678	10699678	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr1:10699678C>T	ENST00000377022.3	-	21	4918	c.4601G>A	c.(4600-4602)cGc>cAc	p.R1534H	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GTGGTGCTTGCGATGCGCCGT	0.662000													5	7					0	0	0.000602	0	0
PCDHA4	56144	broad.mit.edu	37	5	140187182	140187182	+	Missense_Mutation	SNP	A	A	C	rs144914662	byFrequency	TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr5:140187182A>C	ENST00000530339.1	+	1	410	c.410A>C	c.(409-411)cAa>cCa	p.Q137P	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.Q137P|PCDHA4_ENST00000356878.4_Missense_Mutation_p.Q137P|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGCAACACAAAAGAACCTG	0.572000													4	82					0	0	0.009096	0	0
OR9K2	441639	broad.mit.edu	37	12	55523868	55523868	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr12:55523868G>T	ENST00000305377.5	+	1	404	c.316G>T	c.(316-318)Gct>Tct	p.A106S		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TGAACCCAAGGCTATGATCAA	0.423000													19	70					2.35188e-11	2.56145e-11	0.006122	1	0
RYR1	6261	broad.mit.edu	37	19	38948883	38948883	+	Silent	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr19:38948883C>T	ENST00000355481.4	+	18	2249	c.2118C>T	c.(2116-2118)gtC>gtT	p.V706V	RYR1_ENST00000360985.3_Silent_p.V706V|RYR1_ENST00000359596.3_Silent_p.V706V	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	706	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCAACGGGGTCGGCGATGACC	0.657000													24	51					0	0	0.002780	0	0
FBXO11	80204	broad.mit.edu	37	2	48066041	48066041	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr2:48066041C>T	ENST00000403359.3	-	4	616	c.544G>A	c.(544-546)Gta>Ata	p.V182I	FBXO11_ENST00000480038.1_5'UTR|FBXO11_ENST00000378314.3_Missense_Mutation_p.V64I|FBXO11_ENST00000402508.1_Missense_Mutation_p.V98I|FBXO11_ENST00000316377.4_Missense_Mutation_p.V98I	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	182	F-box.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CGTTTACATACACAAGCTGCT	0.378000			"""Mis, F, D"""		DLBCL								3	40					0	0	0.004672	0	0
PFDN2	5202	broad.mit.edu	37	1	161071851	161071851	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr1:161071851T>C	ENST00000368010.3	-	3	359	c.275A>G	c.(274-276)aAc>aGc	p.N92S	PFDN2_ENST00000468311.1_Intron	NM_012394.3	NP_036526.2	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2	92					'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding			lung(1)|skin(1)	2	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTCCTTGTTGTTCTCCAAAGC	0.522000													6	22					0	0	0.003080	0	0
HERC2	8924	broad.mit.edu	37	15	28517376	28517376	+	Silent	SNP	G	G	A	rs141677977		TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr15:28517376G>A	ENST00000261609.7	-	9	1176	c.1068C>T	c.(1066-1068)tcC>tcT	p.S356S		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	356					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)		TGTCGCCCTCGGAGTGGGGTG	0.527000													3	24					0	0	0.004672	0	0
GTF3C4	9329	broad.mit.edu	37	9	135553693	135553693	+	Silent	SNP	G	G	A	rs138509726	byFrequency	TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr9:135553693G>A	ENST00000372146.4	+	2	1251	c.687G>A	c.(685-687)ccG>ccA	p.P229P	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	229					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		ATGAGGCCCCGGAAGGAAATC	0.517000													37	29					0	0	0.004878	0	0
CECR1	51816	broad.mit.edu	37	22	17670900	17670900	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr22:17670900C>T	ENST00000399839.1	-	6	1174	c.904G>A	c.(904-906)Gca>Aca	p.A302T	CECR1_ENST00000262607.3_Missense_Mutation_p.A302T|CECR1_ENST00000480276.1_5'UTR|CECR1_ENST00000399837.2_Missense_Mutation_p.A302T|CECR1_ENST00000449907.2_Missense_Mutation_p.A260T|CECR1_ENST00000330232.4_Missense_Mutation_p.A61T			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	302					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				ATGGATTCTGCGATGACAGCC	0.577000													10	37					0	0	0.010729	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110441662	110441662	+	Silent	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr8:110441662C>T	ENST00000378402.5	+	26	3198	c.3094C>T	c.(3094-3096)Cta>Tta	p.L1032L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1032					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACTTGGAGACCTACTTCGTAC	0.323000										HNSCC(38;0.096)			4	8					0	0	0.009096	0	0
ZNF667	63934	broad.mit.edu	37	19	56952582	56952582	+	Silent	SNP	C	C	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr19:56952582C>A	ENST00000504904.3	-	7	2501	c.1782G>T	c.(1780-1782)cgG>cgT	p.R594R	ZNF667_ENST00000342634.3_Silent_p.R722R|ZNF667_ENST00000292069.6_Silent_p.R594R|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	594					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GGGATGAACTCCGACTATATG	0.388000													21	42					7.87624e-14	8.66387e-14	0.002780	1	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1																						ATCTTCTGCAATTCGGAGTCC	0.652000													4	49					0	0	0.013537	0	0
UBR4	23352	broad.mit.edu	37	1	19487581	19487581	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr1:19487581G>A	ENST00000375267.2	-	38	5239	c.5236C>T	c.(5236-5238)Cag>Tag	p.Q1746*	UBR4_ENST00000375226.2_Nonsense_Mutation_p.Q1746*|UBR4_ENST00000375254.3_Nonsense_Mutation_p.Q1746*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.Q1746*			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1746					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGTTCACTCTGAAATGCCGAC	0.512000													3	23					0	0	0.004672	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317939	30317939	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr10:30317939C>A	ENST00000375377.1	-	3	1239	c.1138G>T	c.(1138-1140)Gct>Tct	p.A380S		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	380	Pro-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTGGCCCCAGCCTTCTCGGTC	0.632000													7	90					8.12818e-05	8.76569e-05	0.001984	1	0
ZNF493	284443	broad.mit.edu	37	19	21607093	21607093	+	Silent	SNP	C	C	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr19:21607093C>A	ENST00000392288.2	+	4	1741	c.1632C>A	c.(1630-1632)ccC>ccA	p.P544P	ZNF493_ENST00000355504.4_Silent_p.P416P|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GAGAAAAACCCTACAAATGTG	0.358000													4	11					0.00909568	0.00943891	0.009096	1	0
MYH15	22989	broad.mit.edu	37	3	108117636	108117636	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr3:108117636C>A	ENST00000273353.3	-	36	5097	c.5041G>T	c.(5041-5043)Gag>Tag	p.E1681*		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1681						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCCACCTGCTCCTTCAGATCA	0.537000													9	163					0.000673444	0.000712297	0.008291	1	0
KANSL1L	151050	broad.mit.edu	37	2	211018847	211018847	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr2:211018847C>A	ENST00000281772.9	-	2	723	c.460G>T	c.(460-462)Gat>Tat	p.D154Y	KANSL1L_ENST00000418791.1_Missense_Mutation_p.D154Y|KANSL1L_ENST00000457374.1_Missense_Mutation_p.D154Y|KANSL1L_ENST00000452086.1_Missense_Mutation_p.D154Y	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	154																	ATATTTGAATCCAGAATAATT	0.348000													8	23					0.000274275	0.000292915	0.004482	1	0
NKD2	85409	broad.mit.edu	37	5	1032273	1032273	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr5:1032273C>T	ENST00000296849.5	+	4	377	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S	NKD2_ENST00000537972.1_Missense_Mutation_p.P50S|NKD2_ENST00000274150.4_Missense_Mutation_p.P50S	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	50	Targeting to the basolateral cell membrane.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			GCAGGAGCTGCCCAATGGGGA	0.662000													22	204					0	0	0.003330	0	0
POLA1	5422	broad.mit.edu	37	X	24745918	24745918	+	Silent	SNP	C	C	G			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chrX:24745918C>G	ENST00000379068.3	+	15	1594	c.1551C>G	c.(1549-1551)gtC>gtG	p.V517V	POLA1_ENST00000493342.1_3'UTR|POLA1_ENST00000379059.3_Silent_p.V511V			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	511					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	ATCAGCCAGTCAGTTGGTGTA	0.388000													8	46					0	0	0.004482	0	0
MSH4	4438	broad.mit.edu	37	1	76269464	76269464	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr1:76269464C>T	ENST00000263187.3	+	2	397	c.293C>T	c.(292-294)tCa>tTa	p.S98L		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	98					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						ACAGTTGCATCAAATTTTACT	0.328000								Mismatch excision repair (MMR)					5	39					0	0	0.000602	0	0
COL4A4	1286	broad.mit.edu	37	2	227945173	227945173	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr2:227945173C>G	ENST00000396625.3	-	24	1996	c.1789G>C	c.(1789-1791)Gat>Cat	p.D597H	COL4A4_ENST00000329662.7_Missense_Mutation_p.D597H	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	597	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGTCCTGGATCCCCTTTTTCT	0.463000													15	54					0	0	0.002450	0	0
CXCR2	3579	broad.mit.edu	37	2	219000421	219000421	+	Silent	SNP	C	C	T	rs13306439		TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr2:219000421C>T	ENST00000318507.2	+	3	1324	c.897C>T	c.(895-897)acC>acT	p.T299T		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	299					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	p.T299T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						TGGATGCCACCGAGATTCTGG	0.567000													9	60					0	0	0.006214	0	0
FLNC	2318	broad.mit.edu	37	7	128497288	128497288	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr7:128497288G>A	ENST00000325888.8	+	46	7939	c.7678G>A	c.(7678-7680)Gtg>Atg	p.V2560M	FLNC_ENST00000346177.6_Missense_Mutation_p.V2527M|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2560	Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGAGGGCCATGTGGTCACTTA	0.607000													16	71					0	0	0.003163	0	0
MARVELD2	153562	broad.mit.edu	37	5	68716051	68716051	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr5:68716051G>A	ENST00000325631.5	+	2	913	c.839G>A	c.(838-840)cGg>cAg	p.R280Q	MARVELD2_ENST00000413223.2_Intron	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	280	MARVEL.				sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		ATGTATTACCGGACCATTCTT	0.433000													15	55					0	0	0.004007	0	0
POU3F4	5456	broad.mit.edu	37	X	82763808	82763808	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chrX:82763808C>T	ENST00000373200.2	+	1	540	c.476C>T	c.(475-477)gCa>gTa	p.A159V	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	159					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GCCGCCTCTGCACAGAGCCTG	0.657000													6	63					0	0	0.001168	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													10	44					0	0	0.001855	0	0
FBXO18	84893	broad.mit.edu	37	10	5951214	5951214	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr10:5951214C>T	ENST00000379999.5	+	6	1234	c.1130C>T	c.(1129-1131)gCg>gTg	p.A377V	FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000362091.4_Missense_Mutation_p.A326V|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379994.1_Missense_Mutation_p.A63V	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	326					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GAGGCTGAGGCGTGTGTGCGG	0.612000													11	19					0	0	0.013537	0	0
SOX13	9580	broad.mit.edu	37	1	204085788	204085788	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr1:204085788C>T	ENST00000367204.1	+	5	681	c.572C>T	c.(571-573)gCc>gTc	p.A191V	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	191	Gln-rich.				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			ATGGAGCTTGCCCGGCAGCAG	0.587000													3	38					0	0	0.004672	0	0
MTTP	4547	broad.mit.edu	37	4	100543978	100543978	+	Silent	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr4:100543978G>A	ENST00000457717.1	+	19	2914	c.2658G>A	c.(2656-2658)ccG>ccA	p.P886P	MTTP_ENST00000265517.5_Silent_p.P886P|MTTP_ENST00000511045.1_Silent_p.P913P|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	886					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	CCCCTCAGCCGGATAGTACTT	0.443000													24	55					0	0	0.003954	0	0
WDFY1	57590	broad.mit.edu	37	2	224743419	224743419	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr2:224743419C>T	ENST00000233055.4	-	12	1304	c.1202G>A	c.(1201-1203)tGc>tAc	p.C401Y		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	401						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		CGCCAGACTGCAGCCCACCAC	0.542000													4	15					0	0	0.000602	0	0
ZC4H2	55906	broad.mit.edu	37	X	64196325	64196325	+	Translation_Start_Site	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chrX:64196325C>T	ENST00000374839.3	-	0	39				ZC4H2_ENST00000447788.2_De_novo_Start_OutOfFrame|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Intron|ZC4H2_ENST00000545618.1_De_novo_Start_InFrame	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing								metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ACAATAGACACAATGTAGCCA	0.527000													10	20					0	0	0.006214	0	0
C15orf27	123591	broad.mit.edu	37	15	76496314	76496314	+	Silent	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr15:76496314G>A	ENST00000388942.3	+	11	1530	c.1254G>A	c.(1252-1254)ccG>ccA	p.P418P		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	418						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						GCGAGGAGCCGTCCTCTGAGC	0.701000													10	28					0	0	0.006214	0	0
ZFAND3	60685	broad.mit.edu	37	6	38084407	38084407	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr6:38084407G>C	ENST00000287218.4	+	5	868	c.421G>C	c.(421-423)Gaa>Caa	p.E141Q	ZFAND3_ENST00000373391.2_Missense_Mutation_p.E119Q	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	141							DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						TGAGAATACGGAACGGTCCGA	0.498000													14	33					0	0	0.002450	0	0
IQSEC3	440073	broad.mit.edu	37	12	247432	247432	+	Splice_Site	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr12:247432G>A	ENST00000538872.1	+	4	1021		c.e4-1		IQSEC3_ENST00000382841.2_Splice_Site|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Splice_Site			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3						regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CGTCCTTGCAGATTGAAATGC	0.612000													3	28					0	0	0.009096	0	0
C15orf32	145858	broad.mit.edu	37	15	93016181	93016181	+	Splice_Site	SNP	A	A	G			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr15:93016181A>G	ENST00000333334.2	+	2	869		c.e2-1		C15orf32_ENST00000556865.1_Splice_Site	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32											endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			TGTTTTCCACAGACACATCCT	0.493000													21	68					0	0	0.014323	0	0
OR8H3	390152	broad.mit.edu	37	11	55890111	55890111	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr11:55890111C>T	ENST00000313472.3	+	1	263	c.263C>T	c.(262-264)aCt>aTt	p.T88I		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					AACTTACTGACTTCCAACTAT	0.423000													69	290					0	0	0.014410	0	0
UBR1	197131	broad.mit.edu	37	15	43330042	43330042	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr15:43330042G>A	ENST00000290650.4	-	17	2029	c.1951C>T	c.(1951-1953)Cgt>Tgt	p.R651C	UBR1_ENST00000382177.2_Missense_Mutation_p.R651C	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	651					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ACCAGACAACGTAAAGGATAT	0.393000													4	22					0	0	0.001168	0	0
AUTS2	26053	broad.mit.edu	37	7	70254942	70254942	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr7:70254942G>A	ENST00000342771.4	+	19	3061	c.2740G>A	c.(2740-2742)Ggc>Agc	p.G914S	AUTS2_ENST00000406775.2_Missense_Mutation_p.G890S	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	914										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GGCGAAAGAGGGCCACCTGCC	0.687000													3	15					0	0	0.009096	0	0
DCLK3	85443	broad.mit.edu	37	3	36779850	36779850	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr3:36779850C>T	ENST00000416516.2	-	2	791	c.301G>A	c.(301-303)Gag>Aag	p.E101K		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	101						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.E101*(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GGTTCTGGCTCCCATTTCCCC	0.592000													46	85					0	0	0.014410	0	0
HTATIP2	10553	broad.mit.edu	37	11	20404742	20404742	+	Silent	SNP	C	C	G			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr11:20404742C>G	ENST00000451739.2	+	5	1161	c.720C>G	c.(718-720)ctC>ctG	p.L240L	HTATIP2_ENST00000531058.1_Silent_p.L194L|HTATIP2_ENST00000443524.2_Silent_p.L240L|HTATIP2_ENST00000421577.2_Silent_p.L240L|HTATIP2_ENST00000419348.2_Silent_p.L274L	NM_001098522.1	NP_001091992.1	Q9BUP3	HTAI2_HUMAN	HIV-1 Tat interactive protein 2, 30kDa	240					angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity			large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ATGGCTCTCTCAAGCCATGAC	0.443000													4	5					0	0	0.009096	0	0
BRWD3	254065	broad.mit.edu	37	X	80001189	80001189	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chrX:80001189C>T	ENST00000373275.4	-	7	686	c.470G>A	c.(469-471)cGc>cAc	p.R157H		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	157										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATGACCAAAGCGACTACAGCC	0.373000													184	15					0	0	0.014410	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G														p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000													11	220					0	0	0.003330	0	0
KIF19	124602	broad.mit.edu	37	17	72322500	72322500	+	Silent	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr17:72322500C>T	ENST00000389916.4	+	1	150	c.12C>T	c.(10-12)agC>agT	p.S4S		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	4					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						TGAAGGACAGCGGGGACTCCA	0.672000													11	51					0	0	0.013537	0	0
KCNC1	3746	broad.mit.edu	37	11	17793574	17793574	+	Silent	SNP	C	C	T	rs76882721	byFrequency	TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr11:17793574C>T	ENST00000379472.3	+	2	963	c.933C>T	c.(931-933)cgC>cgT	p.R311R	KCNC1_ENST00000265969.6_Silent_p.R311R	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	311						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GCTTCCTGCGCGTCGTCCGCT	0.627000													3	19					0	0	0.004672	0	0
CCDC33	80125	broad.mit.edu	37	15	74610933	74610933	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr15:74610933G>A	ENST00000268082.4	+	1	23	c.3G>A	c.(1-3)atG>atA	p.M1I	CCDC33_ENST00000558821.1_Start_Codon_SNP_p.M1I|CCDC33_ENST00000321288.5_Intron|CCDC33_ENST00000398814.3_Intron			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	0							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CAGTAAAGATGGGGGAGCCAG	0.632000													10	17					0	0	0.013537	0	0
NRXN3	9369	broad.mit.edu	37	14	80164200	80164200	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr14:80164200A>C	ENST00000281127.7	+	4	1708	c.829A>C	c.(829-831)Atg>Ctg	p.M277L	NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000557594.1_Missense_Mutation_p.M277L|NRXN3_ENST00000335750.5_Missense_Mutation_p.M909L|NRXN3_ENST00000428277.2_Missense_Mutation_p.M307L|NRXN3_ENST00000554719.1_Missense_Mutation_p.M909L|RP11-242P2.1_ENST00000553322.1_RNA	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	277					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCCACCAGAAATGTCTACTAC	0.453000													8	47					0	0	0.003080	0	0
ITGA11	22801	broad.mit.edu	37	15	68624774	68624774	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr15:68624774C>T	ENST00000423218.2	-	13	1563	c.1468G>A	c.(1468-1470)Gac>Aac	p.D490N	ITGA11_ENST00000315757.7_Missense_Mutation_p.D490N			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	490					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CCGTCGCCGTCGATGTCCACC	0.602000													6	9					0	0	0.001168	0	0
CCDC40	55036	broad.mit.edu	37	17	78073373	78073373	+	Silent	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr17:78073373G>A	ENST00000397545.4	+	20	3255	c.3228G>A	c.(3226-3228)caG>caA	p.Q1076Q		NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	1076					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGCACCTGCAGGCTGTGAAGG	0.572000													13	41					0	0	0.013537	0	0
ADAM12	8038	broad.mit.edu	37	10	127786990	127786990	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr10:127786990C>A	ENST00000368679.4	-	10	1309	c.1000G>T	c.(1000-1002)Gtc>Ttc	p.V334F	ADAM12_ENST00000368676.4_Missense_Mutation_p.V334F	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	334	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CTTACCATGACAATTCCCCCA	0.483000													43	75					2.01872e-29	2.2659e-29	0.014410	1	0
RXFP3	51289	broad.mit.edu	37	5	33937016	33937016	+	Silent	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr5:33937016G>A	ENST00000330120.3	+	1	526	c.171G>A	c.(169-171)ccG>ccA	p.P57P		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	57						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						TGGAGTTGCCGGACGGCGCGC	0.687000													14	153					0	0	0.004007	0	0
TAOK1	57551	broad.mit.edu	37	17	27849481	27849481	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr17:27849481C>T	ENST00000261716.3	+	17	2611	c.2092C>T	c.(2092-2094)Cga>Tga	p.R698*	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	698					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GCGAAGAGAACGAGAACTAAG	0.428000													12	48					0	0	0.013537	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995293	140995293	+	Silent	SNP	A	A	T	rs147024850		TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chrX:140995293A>T	ENST00000285879.4	+	4	2389	c.2103A>T	c.(2101-2103)ggA>ggT	p.G701G	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	701							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTTGAGGGAGAGGACTCCC	0.567000										HNSCC(15;0.026)			19	43					0	0	0.006122	0	0
DGKH	160851	broad.mit.edu	37	13	42761205	42761205	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr13:42761205A>C	ENST00000379274.2	+	14	1580	c.1151A>C	c.(1150-1152)aAg>aCg	p.K384T	DGKH_ENST00000536612.1_Missense_Mutation_p.K384T|DGKH_ENST00000540693.1_Missense_Mutation_p.K520T|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000337343.4_Missense_Mutation_p.K520T|DGKH_ENST00000261491.4_Missense_Mutation_p.K520T|DGKH_ENST00000538674.1_Missense_Mutation_p.K275T			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	520	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GAAACTGTAAAGGACTTCGTT	0.373000													14	51					0	0	0.004990	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			26	21					0	0	0.013726	0	0
COL17A1	1308	broad.mit.edu	37	10	105812854	105812854	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr10:105812854C>T	ENST00000353479.5	-	23	2164	c.1874G>A	c.(1873-1875)cGa>cAa	p.R625Q	COL17A1_ENST00000369733.3_Missense_Mutation_p.R625Q	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	625	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGGCCTTCTCGCCCTCTCTG	0.597000													34	50					0	0	0.013726	0	0
ZNF329	79673	broad.mit.edu	37	19	58639326	58639326	+	Silent	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr19:58639326C>T	ENST00000598312.1	-	4	1778	c.1545G>A	c.(1543-1545)caG>caA	p.Q515Q	ZNF329_ENST00000358067.4_Silent_p.Q515Q	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TTTTTCCACACTGAGGACACC	0.512000													29	72					0	0	0.003271	0	0
TEX13A	56157	broad.mit.edu	37	X	104463741	104463741	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chrX:104463741C>T	ENST00000413579.1	-	5	1246	c.1135G>A	c.(1135-1137)Gac>Aac	p.D379N	TEX13A_ENST00000372578.3_3'UTR|TEX13A_ENST00000372575.1_3'UTR|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	379						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CAGTCCCAGTCCCCTGGCCTG	0.532000													11	83					0	0	0.010729	0	0
TMEM161A	54929	broad.mit.edu	37	19	19231608	19231608	+	Silent	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr19:19231608G>A	ENST00000450333.2	-	9	880	c.843C>T	c.(841-843)ctC>ctT	p.L281L	TMEM161A_ENST00000587583.2_Silent_p.L359L|TMEM161A_ENST00000162044.9_Silent_p.L384L	NM_001256766.1	NP_001243695.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	384					cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			AGTTGAGGGTGAGGATGAGCG	0.612000													7	46					0	0	0.008291	0	0
KRT24	192666	broad.mit.edu	37	17	38855898	38855898	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr17:38855898C>T	ENST00000264651.2	-	6	1215	c.1159G>A	c.(1159-1161)Gga>Aga	p.G387R		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	387	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				GCCAGGGTTCCCTCCAGGGAG	0.423000													29	55					0	0	0.005443	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26233291	26233291	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr7:26233291C>T	ENST00000354667.4	-	9	949	c.781G>A	c.(781-783)Ggt>Agt	p.G261S	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.G249S	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	261	Gly-rich.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CCTCCATAACCGGGGCTACCT	0.448000			T	ETV1	prostate								20	55					0	0	0.010504	0	0
OR51I1	390063	broad.mit.edu	37	11	5461808	5461808	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr11:5461808G>C	ENST00000380211.1	-	1	936	c.937C>G	c.(937-939)Cag>Gag	p.Q313E	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCAGGCCTGGGATTTATGG	0.463000													7	34					0	0	0.003080	0	0
PGA5	5222	broad.mit.edu	37	11	61018663	61018663	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr11:61018663G>T	ENST00000312403.5	+	9	1262	c.1077G>T	c.(1075-1077)gaG>gaT	p.E359D	PGA4_ENST00000422676.2_Missense_Mutation_p.E359D|PGA5_ENST00000541528.1_Missense_Mutation_p.E99D|PGA5_ENST00000451616.2_Missense_Mutation_p.E205D	NM_014224.2	NP_055039.1	P00790	PEPA_HUMAN	pepsinogen 5, group I (pepsinogen A)	359					digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity			large_intestine(1)|skin(1)	2						AATCTGGAGAGCTTTGGATCC	0.552000													31	139					4.62619e-21	5.14021e-21	0.004289	1	0
SCAPER	49855	broad.mit.edu	37	15	76957999	76957999	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr15:76957999G>C	ENST00000538941.2	-	21	2841	c.1902C>G	c.(1900-1902)aaC>aaG	p.N634K	SCAPER_ENST00000324767.7_Missense_Mutation_p.N880K|SCAPER_ENST00000563290.1_Missense_Mutation_p.N880K	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	879	Glu-rich.					endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GGTACCTGAAGTTCATCCGGG	0.328000													2	3					0	0	0.004672	0	0
CHST6	4166	broad.mit.edu	37	16	75512907	75512907	+	Missense_Mutation	SNP	C	C	T	rs72547538		TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr16:75512907C>T	ENST00000332272.4	-	3	999	c.820G>A	c.(820-822)Gag>Aag	p.E274K	CHST6_ENST00000390664.2_Missense_Mutation_p.E274K|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	274			E -> K (in MCD; abolishes ability to sulfate keratan).		keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCCAGGTCCTCGAAGCGCACC	0.672000													5	60					0	0	0.001984	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													7	33					0	0	0.008291	0	0
IGHG2	3501	broad.mit.edu	37	14	106109804	106109804	+	RNA	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr14:106109804C>T	ENST00000390545.2	-	0	716																											TGACCTGGTTCTTGGTCATCT	0.617000													17	167					0	0	0.009535	0	0
DCLK3	85443	broad.mit.edu	37	3	36779895	36779895	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr3:36779895C>G	ENST00000416516.2	-	2	746	c.256G>C	c.(256-258)Gat>Cat	p.D86H		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	86						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GCTCTGTCATCTAGTGAAAGC	0.622000													51	100					0	0	0.014410	0	0
FAM155B	27112	broad.mit.edu	37	X	68749788	68749788	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chrX:68749788C>T	ENST00000252338.4	+	3	1450	c.1408C>T	c.(1408-1410)Cgg>Tgg	p.R470W		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	471						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						GGGCCTGACACGGGAAGAGTG	0.632000													3	21					0	0	0.004672	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76513352	76513352	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr16:76513352G>A	ENST00000307431.8	+	13	2181	c.1796G>A	c.(1795-1797)aGa>aAa	p.R599K	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.R603K|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.R527K|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.R551K|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	600	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TATAAGCACAGAGGAAATACT	0.343000													16	81					0	0	0.007413	0	0
SEMA5B	54437	broad.mit.edu	37	3	122647874	122647874	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr3:122647874C>T	ENST00000195173.4	-	6	809	c.506G>A	c.(505-507)cGc>cAc	p.R169H	SEMA5B_ENST00000451055.2_Missense_Mutation_p.R223H|SEMA5B_ENST00000357599.3_Missense_Mutation_p.R169H			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	169	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GCAGGAGCGGCGCGTGTCCTC	0.617000													8	30					0	0	0.006214	0	0
WIPF1	7456	broad.mit.edu	37	2	175431842	175431842	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr2:175431842G>A	ENST00000392547.2	-	7	1511	c.1412C>T	c.(1411-1413)aCg>aTg	p.T471M	AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.T471M|WIPF1_ENST00000392546.2_Missense_Mutation_p.T471M|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.T471M|WIPF1_ENST00000272746.5_Missense_Mutation_p.T471M|WIPF1_ENST00000467149.1_5'UTR	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	471					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						ACTTTTGGTCGTTTGTACATA	0.458000													14	33					0	0	0.004007	0	0
IL16	3603	broad.mit.edu	37	15	81598782	81598782	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr15:81598782C>T	ENST00000394660.2	+	18	4058	c.3698C>T	c.(3697-3699)aCg>aTg	p.T1233M	IL16_ENST00000394652.2_Missense_Mutation_p.T533M|IL16_ENST00000302987.4_Missense_Mutation_p.T1234M|RP11-761I4.4_ENST00000607019.1_RNA	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	1234					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ACAGTCTGCACGGTGACACTG	0.577000													5	100					0	0	0.000602	0	0
KHK	3795	broad.mit.edu	37	2	27317367	27317367	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr2:27317367C>T	ENST00000260599.6	+	3	745	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	KHK_ENST00000260598.5_Intron|KHK_ENST00000490823.1_3'UTR	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	78					fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACCTCCGCCGCTATTCTGT	0.597000													20	51					0	0	0.007413	0	0
GJA9	81025	broad.mit.edu	37	1	39341347	39341347	+	Silent	SNP	T	T	G			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr1:39341347T>G	ENST00000454994.2	-	2	700	c.424A>C	c.(424-426)Agg>Cgg	p.R142R	GJA9_ENST00000360786.3_Silent_p.R142R|GJA9_ENST00000357771.3_Silent_p.R142R|RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	142					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TTTAGTTTCCTTTTCTCCAGC	0.433000													26	51					0	0	0.004656	0	0
MTSS1L	92154	broad.mit.edu	37	16	70712271	70712271	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr16:70712271C>T	ENST00000338779.6	-	8	782	c.508G>A	c.(508-510)Gac>Aac	p.D170N		NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	170	IMD.				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						TCGTTGACGTCCTGCAGGGCA	0.662000													12	46					0	0	0.002450	0	0
KMT2C	58508	broad.mit.edu	37	7	151879181	151879181	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr7:151879181G>C	ENST00000355193.2	-	36	5982	c.5764C>G	c.(5764-5766)Cca>Gca	p.P1922A	KMT2C_ENST00000262189.6_Missense_Mutation_p.P1922A					lysine (K)-specific methyltransferase 2C																		TTTTCCACTGGTGCAGCAGAA	0.463000													17	56					0	0	0.004007	0	0
TBR1	10716	broad.mit.edu	37	2	162273105	162273105	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr2:162273105C>T	ENST00000389554.3	+	1	501	c.184C>T	c.(184-186)Cag>Tag	p.Q62*		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	62						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GATGACGAATCAGTCAGATAC	0.493000													13	38					0	0	0.004990	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52722988	52722988	+	Silent	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr19:52722988G>A	ENST00000322088.6	+	10	1231	c.1173G>A	c.(1171-1173)gtG>gtA	p.V391V	PPP2R1A_ENST00000462990.1_Silent_p.V212V|PPP2R1A_ENST00000444322.2_Silent_p.V336V	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	391	PP2A subunit B binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TGGACTGTGTGAACGAGGTGA	0.577000			Mis		clear cell ovarian carcinoma								11	22					0	0	0.010729	0	0
IGSF8	93185	broad.mit.edu	37	1	160062266	160062266	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr1:160062266C>T	ENST00000368086.1	-	5	1748	c.1532G>A	c.(1531-1533)cGg>cAg	p.R511Q	IGSF8_ENST00000314485.7_Missense_Mutation_p.R511Q			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	511	Ig-like C2-type 4.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCCTCCAGGCCGGACTCCCAG	0.662000													5	19					0	0	0.000602	0	0
BRWD3	254065	broad.mit.edu	37	X	79960224	79960224	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chrX:79960224T>A	ENST00000373275.4	-	23	2890	c.2674A>T	c.(2674-2676)Aag>Tag	p.K892*	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	892										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCTAGGGACTTCAAATTTTCC	0.348000													16	444					0	0	0.004007	0	0
PADI4	23569	broad.mit.edu	37	1	17682852	17682852	+	Splice_Site	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr1:17682852G>A	ENST00000375448.4	+	13	1482	c.1455_splice	c.e13-1	p.G486_splice	PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	486					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CTGCCTCCAGGGCTTCCGGCT	0.607000													3	21					0	0	0.004672	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50402370	50402370	+	Silent	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr3:50402370C>T	ENST00000435965.1	-	38	3443	c.3270G>A	c.(3268-3270)caG>caA	p.Q1090Q	CACNA2D2_ENST00000479441.1_Silent_p.Q1087Q|CACNA2D2_ENST00000424201.2_Silent_p.Q1080Q|CACNA2D2_ENST00000423994.2_Silent_p.Q1090Q|CACNA2D2_ENST00000395083.1_Silent_p.Q1083Q|CACNA2D2_ENST00000360963.3_Silent_p.Q1013Q|XXcos-LUCA11.5_ENST00000606589.1_Intron|CACNA2D2_ENST00000266039.3_Silent_p.Q1082Q|CACNA2D2_ENST00000429770.1_Silent_p.Q1081Q			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	1087					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	ATCGCGGTCTCTGCACTAGCT	0.721000													8	30					0	0	0.008291	0	0
DBP	1628	broad.mit.edu	37	19	49134221	49134221	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr19:49134221G>A	ENST00000222122.5	-	4	1294	c.851C>T	c.(850-852)tCg>tTg	p.S284L	DBP_ENST00000593500.1_Missense_Mutation_p.S82L|DBP_ENST00000599385.1_Missense_Mutation_p.S82L	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	284					regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CGCCCGCACCGATATCTGGTT	0.647000													3	8					0	0	0.009096	0	0
GNB1L	54584	broad.mit.edu	37	22	19789706	19789706	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr22:19789706C>T	ENST00000329517.6	-	7	786	c.550G>A	c.(550-552)Ggc>Agc	p.G184S	GNB1L_ENST00000405009.1_Missense_Mutation_p.G184S|GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000403325.1_Missense_Mutation_p.G184S	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	184					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)					TCCTCATAGCCGGCCAGAAGG	0.622000													12	31					0	0	0.010729	0	0
POLR1A	25885	broad.mit.edu	37	2	86279995	86279995	+	Silent	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr2:86279995G>A	ENST00000263857.6	-	16	2715	c.2337C>T	c.(2335-2337)acC>acT	p.T779T	POLR1A_ENST00000409681.1_Silent_p.T779T			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	779					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GGGCCAGGCAGGTTAGAACCT	0.642000													11	19					0	0	0.013537	0	0
PLCD1	5333	broad.mit.edu	37	3	38050888	38050888	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr3:38050888T>C	ENST00000463876.1	-	10	1897	c.1544A>G	c.(1543-1545)gAc>gGc	p.D515G	PLCD1_ENST00000334661.4_Missense_Mutation_p.D494G	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	494	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		AATGACCATGTCAGAGAGCTC	0.577000													17	14					0	0	0.008871	0	0
COL18A1	80781	broad.mit.edu	37	21	46899995	46899995	+	Silent	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr21:46899995G>A	ENST00000359759.4	+	10	2589	c.2568G>A	c.(2566-2568)ggG>ggA	p.G856G	COL18A1_ENST00000400337.2_Silent_p.G441G|COL18A1_ENST00000355480.5_Silent_p.G621G			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	856	Triple-helical region 2 (COL2).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GAGACCCTGGGGTTGGAGAGA	0.657000													3	47					0	0	0.009096	0	0
SLC22A7	10864	broad.mit.edu	37	6	43267656	43267656	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr6:43267656G>C	ENST00000372585.5	+	5	774	c.679G>C	c.(679-681)Gag>Cag	p.E227Q	SLC22A7_ENST00000372574.3_Missense_Mutation_p.E225Q|SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372589.3_Missense_Mutation_p.E225Q	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	227						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GCTGGATGTGGAGCACCGCAC	0.607000													17	42					0	0	0.007413	0	0
KPTN	11133	broad.mit.edu	37	19	47984035	47984035	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr19:47984035A>G	ENST00000338134.3	-	6	688	c.581T>C	c.(580-582)cTg>cCg	p.L194P	KPTN_ENST00000595484.1_5'UTR|KPTN_ENST00000536339.1_5'UTR	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	194					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		CAGGTTCGTCAGCTCTGGGAA	0.587000													25	101					0	0	0.004656	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317939	30317939	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr10:30317939C>A	ENST00000375377.1	-	3	1239	c.1138G>T	c.(1138-1140)Gct>Tct	p.A380S		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	380	Pro-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTGGCCCCAGCCTTCTCGGTC	0.632000													7	90					8.12818e-05	8.79171e-05	0.001984	1	0
CASZ1	54897	broad.mit.edu	37	1	10699678	10699678	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr1:10699678C>T	ENST00000377022.3	-	21	4918	c.4601G>A	c.(4600-4602)cGc>cAc	p.R1534H	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GTGGTGCTTGCGATGCGCCGT	0.662000													5	7					0	0	0.000602	0	0
PCDHA4	56144	broad.mit.edu	37	5	140187182	140187182	+	Missense_Mutation	SNP	A	A	C	rs144914662	byFrequency	TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr5:140187182A>C	ENST00000530339.1	+	1	410	c.410A>C	c.(409-411)cAa>cCa	p.Q137P	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.Q137P|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.Q137P	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGCAACACAAAAGAACCTG	0.572000													4	82					0	0	0.009096	0	0
OR9K2	441639	broad.mit.edu	37	12	55523868	55523868	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr12:55523868G>T	ENST00000305377.5	+	1	404	c.316G>T	c.(316-318)Gct>Tct	p.A106S		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TGAACCCAAGGCTATGATCAA	0.423000													19	70					2.35188e-11	2.59687e-11	0.006122	1	0
RYR1	6261	broad.mit.edu	37	19	38948883	38948883	+	Silent	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr19:38948883C>T	ENST00000355481.4	+	18	2249	c.2118C>T	c.(2116-2118)gtC>gtT	p.V706V	RYR1_ENST00000359596.3_Silent_p.V706V|RYR1_ENST00000360985.3_Silent_p.V706V	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	706	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCAACGGGGTCGGCGATGACC	0.657000													24	51					0	0	0.002780	0	0
FBXO11	80204	broad.mit.edu	37	2	48066041	48066041	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr2:48066041C>T	ENST00000403359.3	-	4	616	c.544G>A	c.(544-546)Gta>Ata	p.V182I	FBXO11_ENST00000378314.3_Missense_Mutation_p.V64I|FBXO11_ENST00000316377.4_Missense_Mutation_p.V98I|FBXO11_ENST00000480038.1_5'UTR|FBXO11_ENST00000402508.1_Missense_Mutation_p.V98I	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	182	F-box.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CGTTTACATACACAAGCTGCT	0.378000			"""Mis, F, D"""		DLBCL								3	40					0	0	0.004672	0	0
PFDN2	5202	broad.mit.edu	37	1	161071851	161071851	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr1:161071851T>C	ENST00000368010.3	-	3	359	c.275A>G	c.(274-276)aAc>aGc	p.N92S	PFDN2_ENST00000468311.1_Intron	NM_012394.3	NP_036526.2	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2	92					'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding			lung(1)|skin(1)	2	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTCCTTGTTGTTCTCCAAAGC	0.522000													6	22					0	0	0.003080	0	0
GTF3C4	9329	broad.mit.edu	37	9	135553693	135553693	+	Silent	SNP	G	G	A	rs138509726	byFrequency	TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr9:135553693G>A	ENST00000372146.4	+	2	1251	c.687G>A	c.(685-687)ccG>ccA	p.P229P	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	229					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		ATGAGGCCCCGGAAGGAAATC	0.517000													37	29					0	0	0.004878	0	0
CECR1	51816	broad.mit.edu	37	22	17670900	17670900	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr22:17670900C>T	ENST00000399839.1	-	6	1174	c.904G>A	c.(904-906)Gca>Aca	p.A302T	CECR1_ENST00000449907.2_Missense_Mutation_p.A260T|CECR1_ENST00000480276.1_5'UTR|CECR1_ENST00000262607.3_Missense_Mutation_p.A302T|CECR1_ENST00000330232.4_Missense_Mutation_p.A61T|CECR1_ENST00000399837.2_Missense_Mutation_p.A302T			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	302					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				ATGGATTCTGCGATGACAGCC	0.577000													10	37					0	0	0.010729	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110441662	110441662	+	Silent	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr8:110441662C>T	ENST00000378402.5	+	26	3198	c.3094C>T	c.(3094-3096)Cta>Tta	p.L1032L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1032					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACTTGGAGACCTACTTCGTAC	0.323000										HNSCC(38;0.096)			4	8					0	0	0.009096	0	0
ZNF667	63934	broad.mit.edu	37	19	56952582	56952582	+	Silent	SNP	C	C	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr19:56952582C>A	ENST00000504904.3	-	7	2501	c.1782G>T	c.(1780-1782)cgG>cgT	p.R594R	ZNF667_ENST00000292069.6_Silent_p.R594R|ZNF667_ENST00000342634.3_Silent_p.R722R|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	594					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GGGATGAACTCCGACTATATG	0.388000													21	42					7.87624e-14	8.78823e-14	0.002780	1	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1																						ATCTTCTGCAATTCGGAGTCC	0.652000													4	49					0	0	0.013537	0	0
UBR4	23352	broad.mit.edu	37	1	19487581	19487581	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr1:19487581G>A	ENST00000375267.2	-	38	5239	c.5236C>T	c.(5236-5238)Cag>Tag	p.Q1746*	UBR4_ENST00000375226.2_Nonsense_Mutation_p.Q1746*|UBR4_ENST00000375254.3_Nonsense_Mutation_p.Q1746*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.Q1746*			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1746					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGTTCACTCTGAAATGCCGAC	0.512000													3	23					0	0	0.004672	0	0
ORAI1	84876	broad.mit.edu	37	12	122079507	122079507	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr12:122079507C>G	ENST00000330079.7	+	2	1063	c.870C>G	c.(868-870)caC>caG	p.H290Q		NM_032790.3	NP_116179.2	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	288					platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		AGCTGGACCACAGAGGGGACC	0.612000													19	62					0	0	0.007413	0	0
ZNF493	284443	broad.mit.edu	37	19	21607093	21607093	+	Silent	SNP	C	C	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr19:21607093C>A	ENST00000392288.2	+	4	1741	c.1632C>A	c.(1630-1632)ccC>ccA	p.P544P	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.P416P	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GAGAAAAACCCTACAAATGTG	0.358000													4	11					0.00909568	0.0093606	0.009096	1	0
MYH15	22989	broad.mit.edu	37	3	108117636	108117636	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr3:108117636C>A	ENST00000273353.3	-	36	5097	c.5041G>T	c.(5041-5043)Gag>Tag	p.E1681*		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1681						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCCACCTGCTCCTTCAGATCA	0.537000													9	163					0.000673444	0.000713851	0.008291	1	0
KANSL1L	151050	broad.mit.edu	37	2	211018847	211018847	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr2:211018847C>A	ENST00000281772.9	-	2	723	c.460G>T	c.(460-462)Gat>Tat	p.D154Y	KANSL1L_ENST00000418791.1_Missense_Mutation_p.D154Y|KANSL1L_ENST00000457374.1_Missense_Mutation_p.D154Y|KANSL1L_ENST00000452086.1_Missense_Mutation_p.D154Y	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	154																	ATATTTGAATCCAGAATAATT	0.348000													8	23					0.000274275	0.000293668	0.004482	1	0
POLA1	5422	broad.mit.edu	37	X	24745918	24745918	+	Silent	SNP	C	C	G			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chrX:24745918C>G	ENST00000379068.3	+	15	1594	c.1551C>G	c.(1549-1551)gtC>gtG	p.V517V	POLA1_ENST00000379059.3_Silent_p.V511V|POLA1_ENST00000493342.1_3'UTR			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	511					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	ATCAGCCAGTCAGTTGGTGTA	0.388000													8	46					0	0	0.004482	0	0
MSH4	4438	broad.mit.edu	37	1	76269464	76269464	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr1:76269464C>T	ENST00000263187.3	+	2	397	c.293C>T	c.(292-294)tCa>tTa	p.S98L		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	98					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						ACAGTTGCATCAAATTTTACT	0.328000								Mismatch excision repair (MMR)					5	39					0	0	0.000602	0	0
KIF19	124602	broad.mit.edu	37	17	72322500	72322500	+	Silent	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr17:72322500C>T	ENST00000389916.4	+	1	150	c.12C>T	c.(10-12)agC>agT	p.S4S		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	4					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						TGAAGGACAGCGGGGACTCCA	0.672000													11	51					0	0	0.013537	0	0
COL4A4	1286	broad.mit.edu	37	2	227945173	227945173	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr2:227945173C>G	ENST00000396625.3	-	24	1996	c.1789G>C	c.(1789-1791)Gat>Cat	p.D597H	COL4A4_ENST00000329662.7_Missense_Mutation_p.D597H	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	597	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGTCCTGGATCCCCTTTTTCT	0.463000													15	54					0	0	0.002450	0	0
CXCR2	3579	broad.mit.edu	37	2	219000421	219000421	+	Silent	SNP	C	C	T	rs13306439		TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr2:219000421C>T	ENST00000318507.2	+	3	1324	c.897C>T	c.(895-897)acC>acT	p.T299T		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	299					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	p.T299T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						TGGATGCCACCGAGATTCTGG	0.567000													9	60					0	0	0.006214	0	0
FLNC	2318	broad.mit.edu	37	7	128497288	128497288	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr7:128497288G>A	ENST00000325888.8	+	46	7939	c.7678G>A	c.(7678-7680)Gtg>Atg	p.V2560M	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.V2527M	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2560	Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGAGGGCCATGTGGTCACTTA	0.607000													16	71					0	0	0.003163	0	0
MARVELD2	153562	broad.mit.edu	37	5	68716051	68716051	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr5:68716051G>A	ENST00000325631.5	+	2	913	c.839G>A	c.(838-840)cGg>cAg	p.R280Q	MARVELD2_ENST00000413223.2_Intron	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	280	MARVEL.				sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		ATGTATTACCGGACCATTCTT	0.433000													15	55					0	0	0.004007	0	0
POU3F4	5456	broad.mit.edu	37	X	82763808	82763808	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chrX:82763808C>T	ENST00000373200.2	+	1	540	c.476C>T	c.(475-477)gCa>gTa	p.A159V	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	159					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GCCGCCTCTGCACAGAGCCTG	0.657000													6	63					0	0	0.001168	0	0
FBXO18	84893	broad.mit.edu	37	10	5951214	5951214	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr10:5951214C>T	ENST00000379999.5	+	6	1234	c.1130C>T	c.(1129-1131)gCg>gTg	p.A377V	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379994.1_Missense_Mutation_p.A63V|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000362091.4_Missense_Mutation_p.A326V	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	326					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GAGGCTGAGGCGTGTGTGCGG	0.612000													11	19					0	0	0.013537	0	0
SOX13	9580	broad.mit.edu	37	1	204085788	204085788	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr1:204085788C>T	ENST00000367204.1	+	5	681	c.572C>T	c.(571-573)gCc>gTc	p.A191V	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	191	Gln-rich.				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			ATGGAGCTTGCCCGGCAGCAG	0.587000													3	38					0	0	0.004672	0	0
MTTP	4547	broad.mit.edu	37	4	100543978	100543978	+	Silent	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr4:100543978G>A	ENST00000457717.1	+	19	2914	c.2658G>A	c.(2656-2658)ccG>ccA	p.P886P	MTTP_ENST00000511045.1_Silent_p.P913P|MTTP_ENST00000265517.5_Silent_p.P886P|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	886					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	CCCCTCAGCCGGATAGTACTT	0.443000													24	55					0	0	0.003954	0	0
WDFY1	57590	broad.mit.edu	37	2	224743419	224743419	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr2:224743419C>T	ENST00000233055.4	-	12	1304	c.1202G>A	c.(1201-1203)tGc>tAc	p.C401Y		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	401						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		CGCCAGACTGCAGCCCACCAC	0.542000													4	15					0	0	0.000602	0	0
ZC4H2	55906	broad.mit.edu	37	X	64196325	64196325	+	Translation_Start_Site	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chrX:64196325C>T	ENST00000374839.3	-	0	39				ZC4H2_ENST00000545618.1_De_novo_Start_InFrame|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000447788.2_De_novo_Start_OutOfFrame|ZC4H2_ENST00000337990.2_Intron	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing								metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ACAATAGACACAATGTAGCCA	0.527000													10	20					0	0	0.006214	0	0
C15orf27	123591	broad.mit.edu	37	15	76496314	76496314	+	Silent	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr15:76496314G>A	ENST00000388942.3	+	11	1530	c.1254G>A	c.(1252-1254)ccG>ccA	p.P418P		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	418						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						GCGAGGAGCCGTCCTCTGAGC	0.701000													10	28					0	0	0.006214	0	0
ZFAND3	60685	broad.mit.edu	37	6	38084407	38084407	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr6:38084407G>C	ENST00000287218.4	+	5	868	c.421G>C	c.(421-423)Gaa>Caa	p.E141Q	ZFAND3_ENST00000373391.2_Missense_Mutation_p.E119Q	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	141							DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						TGAGAATACGGAACGGTCCGA	0.498000													14	33					0	0	0.002450	0	0
IQSEC3	440073	broad.mit.edu	37	12	247432	247432	+	Splice_Site	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr12:247432G>A	ENST00000538872.1	+	4	1021		c.e4-1		RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Splice_Site|IQSEC3_ENST00000382841.2_Splice_Site			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3						regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CGTCCTTGCAGATTGAAATGC	0.612000													3	28					0	0	0.009096	0	0
C15orf32	145858	broad.mit.edu	37	15	93016181	93016181	+	Splice_Site	SNP	A	A	G			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr15:93016181A>G	ENST00000333334.2	+	2	869		c.e2-1		C15orf32_ENST00000556865.1_Splice_Site	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32											endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			TGTTTTCCACAGACACATCCT	0.493000													21	68					0	0	0.014323	0	0
OR8H3	390152	broad.mit.edu	37	11	55890111	55890111	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr11:55890111C>T	ENST00000313472.3	+	1	263	c.263C>T	c.(262-264)aCt>aTt	p.T88I		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					AACTTACTGACTTCCAACTAT	0.423000													69	290					0	0	0.014410	0	0
UBR1	197131	broad.mit.edu	37	15	43330042	43330042	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr15:43330042G>A	ENST00000290650.4	-	17	2029	c.1951C>T	c.(1951-1953)Cgt>Tgt	p.R651C	UBR1_ENST00000382177.2_Missense_Mutation_p.R651C	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	651					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ACCAGACAACGTAAAGGATAT	0.393000													4	22					0	0	0.001168	0	0
AUTS2	26053	broad.mit.edu	37	7	70254942	70254942	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr7:70254942G>A	ENST00000342771.4	+	19	3061	c.2740G>A	c.(2740-2742)Ggc>Agc	p.G914S	AUTS2_ENST00000406775.2_Missense_Mutation_p.G890S	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	914										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GGCGAAAGAGGGCCACCTGCC	0.687000													3	15					0	0	0.009096	0	0
DCLK3	85443	broad.mit.edu	37	3	36779850	36779850	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr3:36779850C>T	ENST00000416516.2	-	2	791	c.301G>A	c.(301-303)Gag>Aag	p.E101K		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	101						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.E101*(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GGTTCTGGCTCCCATTTCCCC	0.592000													46	85					0	0	0.014410	0	0
HTATIP2	10553	broad.mit.edu	37	11	20404742	20404742	+	Silent	SNP	C	C	G			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr11:20404742C>G	ENST00000451739.2	+	5	1161	c.720C>G	c.(718-720)ctC>ctG	p.L240L	HTATIP2_ENST00000421577.2_Silent_p.L240L|HTATIP2_ENST00000531058.1_Silent_p.L194L|HTATIP2_ENST00000443524.2_Silent_p.L240L|HTATIP2_ENST00000419348.2_Silent_p.L274L	NM_001098522.1	NP_001091992.1	Q9BUP3	HTAI2_HUMAN	HIV-1 Tat interactive protein 2, 30kDa	240					angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity			large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ATGGCTCTCTCAAGCCATGAC	0.443000													4	5					0	0	0.009096	0	0
BRWD3	254065	broad.mit.edu	37	X	80001189	80001189	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chrX:80001189C>T	ENST00000373275.4	-	7	686	c.470G>A	c.(469-471)cGc>cAc	p.R157H		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	157										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATGACCAAAGCGACTACAGCC	0.373000													184	15					0	0	0.014410	0	0
NKD2	85409	broad.mit.edu	37	5	1032273	1032273	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr5:1032273C>T	ENST00000296849.5	+	4	377	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S	NKD2_ENST00000274150.4_Missense_Mutation_p.P50S|NKD2_ENST00000537972.1_Missense_Mutation_p.P50S	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	50	Targeting to the basolateral cell membrane.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			GCAGGAGCTGCCCAATGGGGA	0.662000													22	204					0	0	0.003330	0	0
KCNC1	3746	broad.mit.edu	37	11	17793574	17793574	+	Silent	SNP	C	C	T	rs76882721	byFrequency	TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr11:17793574C>T	ENST00000379472.3	+	2	963	c.933C>T	c.(931-933)cgC>cgT	p.R311R	KCNC1_ENST00000265969.6_Silent_p.R311R	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	311						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GCTTCCTGCGCGTCGTCCGCT	0.627000													3	19					0	0	0.004672	0	0
CCDC33	80125	broad.mit.edu	37	15	74610933	74610933	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr15:74610933G>A	ENST00000268082.4	+	1	23	c.3G>A	c.(1-3)atG>atA	p.M1I	CCDC33_ENST00000321288.5_Intron|CCDC33_ENST00000558821.1_Start_Codon_SNP_p.M1I|CCDC33_ENST00000398814.3_Intron			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	0							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CAGTAAAGATGGGGGAGCCAG	0.632000													10	17					0	0	0.013537	0	0
NRXN3	9369	broad.mit.edu	37	14	80164200	80164200	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr14:80164200A>C	ENST00000281127.7	+	4	1708	c.829A>C	c.(829-831)Atg>Ctg	p.M277L	NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000557594.1_Missense_Mutation_p.M277L|NRXN3_ENST00000335750.5_Missense_Mutation_p.M909L|NRXN3_ENST00000554719.1_Missense_Mutation_p.M909L|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000428277.2_Missense_Mutation_p.M307L	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	277					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCCACCAGAAATGTCTACTAC	0.453000													8	47					0	0	0.003080	0	0
ITGA11	22801	broad.mit.edu	37	15	68624774	68624774	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr15:68624774C>T	ENST00000423218.2	-	13	1563	c.1468G>A	c.(1468-1470)Gac>Aac	p.D490N	ITGA11_ENST00000315757.7_Missense_Mutation_p.D490N			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	490					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CCGTCGCCGTCGATGTCCACC	0.602000													6	9					0	0	0.001168	0	0
CCDC40	55036	broad.mit.edu	37	17	78073373	78073373	+	Silent	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr17:78073373G>A	ENST00000397545.4	+	20	3255	c.3228G>A	c.(3226-3228)caG>caA	p.Q1076Q		NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	1076					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGCACCTGCAGGCTGTGAAGG	0.572000													13	41					0	0	0.013537	0	0
ADAM12	8038	broad.mit.edu	37	10	127786990	127786990	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr10:127786990C>A	ENST00000368679.4	-	10	1309	c.1000G>T	c.(1000-1002)Gtc>Ttc	p.V334F	ADAM12_ENST00000368676.4_Missense_Mutation_p.V334F	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	334	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CTTACCATGACAATTCCCCCA	0.483000													43	75					2.01872e-29	2.32591e-29	0.014410	1	0
RXFP3	51289	broad.mit.edu	37	5	33937016	33937016	+	Silent	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr5:33937016G>A	ENST00000330120.3	+	1	526	c.171G>A	c.(169-171)ccG>ccA	p.P57P		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	57						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						TGGAGTTGCCGGACGGCGCGC	0.687000													14	153					0	0	0.004007	0	0
TAOK1	57551	broad.mit.edu	37	17	27849481	27849481	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr17:27849481C>T	ENST00000261716.3	+	17	2611	c.2092C>T	c.(2092-2094)Cga>Tga	p.R698*	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	698					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GCGAAGAGAACGAGAACTAAG	0.428000													12	48					0	0	0.013537	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995293	140995293	+	Silent	SNP	A	A	T	rs147024850		TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chrX:140995293A>T	ENST00000285879.4	+	4	2389	c.2103A>T	c.(2101-2103)ggA>ggT	p.G701G	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	701							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTTGAGGGAGAGGACTCCC	0.567000										HNSCC(15;0.026)			19	43					0	0	0.006122	0	0
DGKH	160851	broad.mit.edu	37	13	42761205	42761205	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr13:42761205A>C	ENST00000379274.2	+	14	1580	c.1151A>C	c.(1150-1152)aAg>aCg	p.K384T	DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000337343.4_Missense_Mutation_p.K520T|DGKH_ENST00000536612.1_Missense_Mutation_p.K384T|DGKH_ENST00000538674.1_Missense_Mutation_p.K275T|DGKH_ENST00000261491.4_Missense_Mutation_p.K520T|DGKH_ENST00000540693.1_Missense_Mutation_p.K520T			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	520	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GAAACTGTAAAGGACTTCGTT	0.373000													14	51					0	0	0.004990	0	0
HERC2	8924	broad.mit.edu	37	15	28517376	28517376	+	Silent	SNP	G	G	A	rs141677977		TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr15:28517376G>A	ENST00000261609.7	-	9	1176	c.1068C>T	c.(1066-1068)tcC>tcT	p.S356S		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	356					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)		TGTCGCCCTCGGAGTGGGGTG	0.527000													3	24					0	0	0.004672	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			26	21					0	0	0.013726	0	0
COL17A1	1308	broad.mit.edu	37	10	105812854	105812854	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr10:105812854C>T	ENST00000353479.5	-	23	2164	c.1874G>A	c.(1873-1875)cGa>cAa	p.R625Q	COL17A1_ENST00000369733.3_Missense_Mutation_p.R625Q	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	625	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGGCCTTCTCGCCCTCTCTG	0.597000													34	50					0	0	0.013726	0	0
ZNF329	79673	broad.mit.edu	37	19	58639326	58639326	+	Silent	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr19:58639326C>T	ENST00000598312.1	-	4	1778	c.1545G>A	c.(1543-1545)caG>caA	p.Q515Q	ZNF329_ENST00000358067.4_Silent_p.Q515Q	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TTTTTCCACACTGAGGACACC	0.512000													29	72					0	0	0.003271	0	0
TEX13A	56157	broad.mit.edu	37	X	104463741	104463741	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chrX:104463741C>T	ENST00000413579.1	-	5	1246	c.1135G>A	c.(1135-1137)Gac>Aac	p.D379N	IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_3'UTR|TEX13A_ENST00000372575.1_3'UTR|IL1RAPL2_ENST00000344799.4_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	379						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CAGTCCCAGTCCCCTGGCCTG	0.532000													11	83					0	0	0.010729	0	0
TMEM161A	54929	broad.mit.edu	37	19	19231608	19231608	+	Silent	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr19:19231608G>A	ENST00000450333.2	-	9	880	c.843C>T	c.(841-843)ctC>ctT	p.L281L	TMEM161A_ENST00000587583.2_Silent_p.L359L|TMEM161A_ENST00000162044.9_Silent_p.L384L	NM_001256766.1	NP_001243695.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	384					cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			AGTTGAGGGTGAGGATGAGCG	0.612000													7	46					0	0	0.008291	0	0
KRT24	192666	broad.mit.edu	37	17	38855898	38855898	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr17:38855898C>T	ENST00000264651.2	-	6	1215	c.1159G>A	c.(1159-1161)Gga>Aga	p.G387R		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	387	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				GCCAGGGTTCCCTCCAGGGAG	0.423000													29	55					0	0	0.005443	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26233291	26233291	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr7:26233291C>T	ENST00000354667.4	-	9	949	c.781G>A	c.(781-783)Ggt>Agt	p.G261S	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.G249S	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	261	Gly-rich.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CCTCCATAACCGGGGCTACCT	0.448000			T	ETV1	prostate								20	55					0	0	0.010504	0	0
OR51I1	390063	broad.mit.edu	37	11	5461808	5461808	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr11:5461808G>C	ENST00000380211.1	-	1	936	c.937C>G	c.(937-939)Cag>Gag	p.Q313E	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCAGGCCTGGGATTTATGG	0.463000													7	34					0	0	0.003080	0	0
PGA5	5222	broad.mit.edu	37	11	61018663	61018663	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr11:61018663G>T	ENST00000312403.5	+	9	1262	c.1077G>T	c.(1075-1077)gaG>gaT	p.E359D	PGA4_ENST00000422676.2_Missense_Mutation_p.E359D|PGA5_ENST00000541528.1_Missense_Mutation_p.E99D|PGA5_ENST00000451616.2_Missense_Mutation_p.E205D	NM_014224.2	NP_055039.1	P00790	PEPA_HUMAN	pepsinogen 5, group I (pepsinogen A)	359					digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity			large_intestine(1)|skin(1)	2						AATCTGGAGAGCTTTGGATCC	0.552000													31	139					4.62619e-21	5.27286e-21	0.004289	1	0
SCAPER	49855	broad.mit.edu	37	15	76957999	76957999	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr15:76957999G>C	ENST00000538941.2	-	21	2841	c.1902C>G	c.(1900-1902)aaC>aaG	p.N634K	SCAPER_ENST00000563290.1_Missense_Mutation_p.N880K|SCAPER_ENST00000324767.7_Missense_Mutation_p.N880K	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	879	Glu-rich.					endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GGTACCTGAAGTTCATCCGGG	0.328000													2	3					0	0	0.004672	0	0
CHST6	4166	broad.mit.edu	37	16	75512907	75512907	+	Missense_Mutation	SNP	C	C	T	rs72547538		TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr16:75512907C>T	ENST00000332272.4	-	3	999	c.820G>A	c.(820-822)Gag>Aag	p.E274K	CHST6_ENST00000390664.2_Missense_Mutation_p.E274K|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	274			E -> K (in MCD; abolishes ability to sulfate keratan).		keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCCAGGTCCTCGAAGCGCACC	0.672000													5	60					0	0	0.001984	0	0
IGHG2	3501	broad.mit.edu	37	14	106109804	106109804	+	RNA	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr14:106109804C>T	ENST00000390545.2	-	0	716																											TGACCTGGTTCTTGGTCATCT	0.617000													17	167					0	0	0.009535	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274424	39274424	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr17:39274424G>C	ENST00000391413.2	-	1	182	c.144C>G	c.(142-144)agC>agG	p.S48R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	48	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.S48R(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCCTGCAGCAGCTGGACACAC	0.672000													3	39					0	0	0.009096	0	0
DCLK3	85443	broad.mit.edu	37	3	36779895	36779895	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr3:36779895C>G	ENST00000416516.2	-	2	746	c.256G>C	c.(256-258)Gat>Cat	p.D86H		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	86						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GCTCTGTCATCTAGTGAAAGC	0.622000													51	100					0	0	0.014410	0	0
FAM155B	27112	broad.mit.edu	37	X	68749788	68749788	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chrX:68749788C>T	ENST00000252338.4	+	3	1450	c.1408C>T	c.(1408-1410)Cgg>Tgg	p.R470W		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	471						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						GGGCCTGACACGGGAAGAGTG	0.632000													3	21					0	0	0.004672	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76513352	76513352	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr16:76513352G>A	ENST00000307431.8	+	13	2181	c.1796G>A	c.(1795-1797)aGa>aAa	p.R599K	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.R527K|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.R603K|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.R551K	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	600	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TATAAGCACAGAGGAAATACT	0.343000													16	81					0	0	0.007413	0	0
SEMA5B	54437	broad.mit.edu	37	3	122647874	122647874	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr3:122647874C>T	ENST00000195173.4	-	6	809	c.506G>A	c.(505-507)cGc>cAc	p.R169H	SEMA5B_ENST00000357599.3_Missense_Mutation_p.R169H|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R223H			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	169	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GCAGGAGCGGCGCGTGTCCTC	0.617000													8	30					0	0	0.006214	0	0
WIPF1	7456	broad.mit.edu	37	2	175431842	175431842	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr2:175431842G>A	ENST00000392547.2	-	7	1511	c.1412C>T	c.(1411-1413)aCg>aTg	p.T471M	WIPF1_ENST00000392546.2_Missense_Mutation_p.T471M|WIPF1_ENST00000409891.1_Missense_Mutation_p.T471M|WIPF1_ENST00000272746.5_Missense_Mutation_p.T471M|WIPF1_ENST00000359761.3_Missense_Mutation_p.T471M|AC018890.6_ENST00000442996.1_RNA|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000467149.1_5'UTR	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	471					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						ACTTTTGGTCGTTTGTACATA	0.458000													14	33					0	0	0.004007	0	0
IL16	3603	broad.mit.edu	37	15	81598782	81598782	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr15:81598782C>T	ENST00000394660.2	+	18	4058	c.3698C>T	c.(3697-3699)aCg>aTg	p.T1233M	IL16_ENST00000302987.4_Missense_Mutation_p.T1234M|IL16_ENST00000394652.2_Missense_Mutation_p.T533M|RP11-761I4.4_ENST00000607019.1_RNA	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	1234					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ACAGTCTGCACGGTGACACTG	0.577000													5	100					0	0	0.000602	0	0
KHK	3795	broad.mit.edu	37	2	27317367	27317367	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr2:27317367C>T	ENST00000260599.6	+	3	745	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	KHK_ENST00000490823.1_3'UTR|KHK_ENST00000260598.5_Intron	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	78					fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACCTCCGCCGCTATTCTGT	0.597000													20	51					0	0	0.007413	0	0
GJA9	81025	broad.mit.edu	37	1	39341347	39341347	+	Silent	SNP	T	T	G			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr1:39341347T>G	ENST00000454994.2	-	2	700	c.424A>C	c.(424-426)Agg>Cgg	p.R142R	RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR|GJA9_ENST00000357771.3_Silent_p.R142R|RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000360786.3_Silent_p.R142R			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	142					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TTTAGTTTCCTTTTCTCCAGC	0.433000													26	51					0	0	0.004656	0	0
MTSS1L	92154	broad.mit.edu	37	16	70712271	70712271	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr16:70712271C>T	ENST00000338779.6	-	8	782	c.508G>A	c.(508-510)Gac>Aac	p.D170N		NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	170	IMD.				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						TCGTTGACGTCCTGCAGGGCA	0.662000													12	46					0	0	0.002450	0	0
KMT2C	58508	broad.mit.edu	37	7	151879181	151879181	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr7:151879181G>C	ENST00000355193.2	-	36	5982	c.5764C>G	c.(5764-5766)Cca>Gca	p.P1922A	KMT2C_ENST00000262189.6_Missense_Mutation_p.P1922A					lysine (K)-specific methyltransferase 2C																		TTTTCCACTGGTGCAGCAGAA	0.463000													17	56					0	0	0.004007	0	0
TBR1	10716	broad.mit.edu	37	2	162273105	162273105	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr2:162273105C>T	ENST00000389554.3	+	1	501	c.184C>T	c.(184-186)Cag>Tag	p.Q62*		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	62						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GATGACGAATCAGTCAGATAC	0.493000													13	38					0	0	0.004990	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52722988	52722988	+	Silent	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr19:52722988G>A	ENST00000322088.6	+	10	1231	c.1173G>A	c.(1171-1173)gtG>gtA	p.V391V	PPP2R1A_ENST00000462990.1_Silent_p.V212V|PPP2R1A_ENST00000444322.2_Silent_p.V336V	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	391	PP2A subunit B binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TGGACTGTGTGAACGAGGTGA	0.577000			Mis		clear cell ovarian carcinoma								11	22					0	0	0.010729	0	0
IGSF8	93185	broad.mit.edu	37	1	160062266	160062266	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr1:160062266C>T	ENST00000368086.1	-	5	1748	c.1532G>A	c.(1531-1533)cGg>cAg	p.R511Q	IGSF8_ENST00000314485.7_Missense_Mutation_p.R511Q			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	511	Ig-like C2-type 4.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCCTCCAGGCCGGACTCCCAG	0.662000													5	19					0	0	0.000602	0	0
BRWD3	254065	broad.mit.edu	37	X	79960224	79960224	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chrX:79960224T>A	ENST00000373275.4	-	23	2890	c.2674A>T	c.(2674-2676)Aag>Tag	p.K892*	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	892										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCTAGGGACTTCAAATTTTCC	0.348000													16	444					0	0	0.004007	0	0
PADI4	23569	broad.mit.edu	37	1	17682852	17682852	+	Splice_Site	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr1:17682852G>A	ENST00000375448.4	+	13	1482	c.1455_splice	c.e13-1	p.G486_splice	PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	486					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CTGCCTCCAGGGCTTCCGGCT	0.607000													3	21					0	0	0.004672	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50402370	50402370	+	Silent	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr3:50402370C>T	ENST00000435965.1	-	38	3443	c.3270G>A	c.(3268-3270)caG>caA	p.Q1090Q	CACNA2D2_ENST00000479441.1_Silent_p.Q1087Q|CACNA2D2_ENST00000266039.3_Silent_p.Q1082Q|CACNA2D2_ENST00000429770.1_Silent_p.Q1081Q|XXcos-LUCA11.5_ENST00000606589.1_Intron|CACNA2D2_ENST00000424201.2_Silent_p.Q1080Q|CACNA2D2_ENST00000360963.3_Silent_p.Q1013Q|CACNA2D2_ENST00000395083.1_Silent_p.Q1083Q|CACNA2D2_ENST00000423994.2_Silent_p.Q1090Q			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	1087					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	ATCGCGGTCTCTGCACTAGCT	0.721000													8	30					0	0	0.008291	0	0
DBP	1628	broad.mit.edu	37	19	49134221	49134221	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr19:49134221G>A	ENST00000222122.5	-	4	1294	c.851C>T	c.(850-852)tCg>tTg	p.S284L	DBP_ENST00000593500.1_Missense_Mutation_p.S82L|DBP_ENST00000599385.1_Missense_Mutation_p.S82L	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	284					regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CGCCCGCACCGATATCTGGTT	0.647000													3	8					0	0	0.009096	0	0
GNB1L	54584	broad.mit.edu	37	22	19789706	19789706	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr22:19789706C>T	ENST00000329517.6	-	7	786	c.550G>A	c.(550-552)Ggc>Agc	p.G184S	GNB1L_ENST00000405009.1_Missense_Mutation_p.G184S|GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000403325.1_Missense_Mutation_p.G184S	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	184					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)					TCCTCATAGCCGGCCAGAAGG	0.622000													12	31					0	0	0.010729	0	0
POLR1A	25885	broad.mit.edu	37	2	86279995	86279995	+	Silent	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr2:86279995G>A	ENST00000263857.6	-	16	2715	c.2337C>T	c.(2335-2337)acC>acT	p.T779T	POLR1A_ENST00000409681.1_Silent_p.T779T			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	779					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GGGCCAGGCAGGTTAGAACCT	0.642000													11	19					0	0	0.013537	0	0
PLCD1	5333	broad.mit.edu	37	3	38050888	38050888	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr3:38050888T>C	ENST00000463876.1	-	10	1897	c.1544A>G	c.(1543-1545)gAc>gGc	p.D515G	PLCD1_ENST00000334661.4_Missense_Mutation_p.D494G	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	494	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		AATGACCATGTCAGAGAGCTC	0.577000													17	14					0	0	0.008871	0	0
COL18A1	80781	broad.mit.edu	37	21	46899995	46899995	+	Silent	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr21:46899995G>A	ENST00000359759.4	+	10	2589	c.2568G>A	c.(2566-2568)ggG>ggA	p.G856G	COL18A1_ENST00000400337.2_Silent_p.G441G|COL18A1_ENST00000355480.5_Silent_p.G621G			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	856	Triple-helical region 2 (COL2).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GAGACCCTGGGGTTGGAGAGA	0.657000													3	47					0	0	0.009096	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1995395	1995405	+	Frame_Shift_Del	DEL	GATATTAATGA	GATATTAATGA	-	rs10735005	by1000genomes	TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr12:1995395_1995405delGATATTAATGA	ENST00000382722.5	-	8	1339_1349	c.977_987delTCATTAATATC	c.(976-987)tfs	p.FINI326fs	CACNA2D4_ENST00000585708.1_Frame_Shift_Del_p.FINI262fs|CACNA2D4_ENST00000588077.1_Frame_Shift_Del_p.FINI262fs|CACNA2D4_ENST00000587995.1_Frame_Shift_Del_p.FINI326fs|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000586184.1_Frame_Shift_Del_p.FINI326fs	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	326	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.F326F(1)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TTACCGCTATGATATTAATGAAGTCATTCTC	0.498													8	38	---	---	---	---					
TRMT5	57570	broad.mit.edu	37	14	61442681	61442696	+	Frame_Shift_Del	DEL	TTCTTTGCTACTGGAA	TTCTTTGCTACTGGAA	-			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr14:61442681_61442696delTTCTTTGCTACTGGAA	ENST00000261249.6	-	4	1325_1340	c.941_956delTTCCAGTAGCAAAGAA	c.(940-957)aafs	p.IPVAKK314fs	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	314						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		AGTGCAGTTTTTCTTTGCTACTGGAATGGCAAAGGG	0.417													7	117	---	---	---	---					
OR1D2	4991	broad.mit.edu	37	17	2995956	2995966	+	Frame_Shift_Del	DEL	TTGTCCAGGGC	TTGTCCAGGGC	-	rs138671819		TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr17:2995956_2995966delTTGTCCAGGGC	ENST00000331459.1	-	1	324_334	c.325_335delGCCCTGGACAA	c.(325-336)cfs	p.ALDN109fs		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	109					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	p.A109T(1)|p.A109A(1)		kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						CAGGATGAGGTTGTCCAGGGCCACCAAGGAG	0.540													22	73	---	---	---	---					
SHKBP1	92799	broad.mit.edu	37	19	41086523	41086527	+	Frame_Shift_Del	DEL	GGATC	GGATC	-			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr19:41086523_41086527delGGATC	ENST00000291842.5	+	8	663_667	c.614_618delGGATC	c.(613-618)tfs	p.WI205fs	SHKBP1_ENST00000600733.1_Frame_Shift_Del_p.WI205fs	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	205						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACCATAATTGGATCGCTGTGGCCT	0.595													8	41	---	---	---	---					
ZNF702P	79986	broad.mit.edu	37	19	53473566	53473566	+	RNA	DEL	T	T	-			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr19:53473566delT	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							TTATCTGACATTTTTTTAACA	0.348													8	19	---	---	---	---					
SAMHD1	25939	broad.mit.edu	37	20	35580031	35580032	+	In_Frame_Ins	INS	-	-	ATC			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr20:35580031_35580032insATC	ENST00000262878.4	-	1	214_215	c.15_16insGAT	c.(13-18)gaccga>gaGATccga	p.5_5D>EI	SAMHD1_ENST00000373694.5_De_novo_Start_InFrame	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	5					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				GGCTGCTCGGAATCGGCTCGCT	0.693													42	281	---	---	---	---					
MCAT	27349	broad.mit.edu	37	22	43539128	43539128	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr22:43539128delC	ENST00000290429.5	-	1	272	c.227delG	c.(226-228)gcfs	p.G76fs	MCAT_ENST00000464244.1_5'UTR|MCAT_ENST00000327555.5_Frame_Shift_Del_p.G76fs	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	76					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				GCGGCCCATGCCCACCACCTG	0.746													2	4	---	---	---	---					
CACNA2D4	93589	broad.mit.edu	37	12	1995395	1995405	+	Frame_Shift_Del	DEL	GATATTAATGA	GATATTAATGA	-	rs10735005	by1000genomes	TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr12:1995395_1995405delGATATTAATGA	ENST00000382722.5	-	8	1339_1349	c.977_987delTCATTAATATC	c.(976-987)tfs	p.FINI326fs	CACNA2D4_ENST00000586184.1_Frame_Shift_Del_p.FINI326fs|CACNA2D4_ENST00000588077.1_Frame_Shift_Del_p.FINI262fs|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000587995.1_Frame_Shift_Del_p.FINI326fs|CACNA2D4_ENST00000585708.1_Frame_Shift_Del_p.FINI262fs	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	326	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.F326F(1)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TTACCGCTATGATATTAATGAAGTCATTCTC	0.498													8	38	---	---	---	---					
TRMT5	57570	broad.mit.edu	37	14	61442681	61442696	+	Frame_Shift_Del	DEL	TTCTTTGCTACTGGAA	TTCTTTGCTACTGGAA	-			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr14:61442681_61442696delTTCTTTGCTACTGGAA	ENST00000261249.6	-	4	1325_1340	c.941_956delTTCCAGTAGCAAAGAA	c.(940-957)aafs	p.IPVAKK314fs	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	314						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		AGTGCAGTTTTTCTTTGCTACTGGAATGGCAAAGGG	0.417													7	117	---	---	---	---					
WDR81	124997	broad.mit.edu	37	17	1631341	1631343	+	In_Frame_Del	DEL	GAG	GAG	-	rs66598941		TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr17:1631341_1631343delGAG	ENST00000409644.1	+	1	3088_3090	c.3088_3090delGAG	c.(3088-3090)del	p.E1033del	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000309182.5_5'UTR	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	305										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGGGGCTGCTGAGGAGGAGGAGA	0.695													9	0	---	---	---	---					
OR1D2	4991	broad.mit.edu	37	17	2995956	2995966	+	Frame_Shift_Del	DEL	TTGTCCAGGGC	TTGTCCAGGGC	-	rs138671819		TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr17:2995956_2995966delTTGTCCAGGGC	ENST00000331459.1	-	1	324_334	c.325_335delGCCCTGGACAA	c.(325-336)cfs	p.ALDN109fs		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	109					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	p.A109T(1)|p.A109A(1)		kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						CAGGATGAGGTTGTCCAGGGCCACCAAGGAG	0.540													22	73	---	---	---	---					
SHKBP1	92799	broad.mit.edu	37	19	41086523	41086527	+	Frame_Shift_Del	DEL	GGATC	GGATC	-			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr19:41086523_41086527delGGATC	ENST00000291842.5	+	8	663_667	c.614_618delGGATC	c.(613-618)tfs	p.WI205fs	SHKBP1_ENST00000600733.1_Frame_Shift_Del_p.WI205fs	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	205						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACCATAATTGGATCGCTGTGGCCT	0.595													8	41	---	---	---	---					
ZNF702P	79986	broad.mit.edu	37	19	53473566	53473566	+	RNA	DEL	T	T	-			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr19:53473566delT	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							TTATCTGACATTTTTTTAACA	0.348													8	19	---	---	---	---					
SAMHD1	25939	broad.mit.edu	37	20	35580031	35580032	+	In_Frame_Ins	INS	-	-	ATC			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr20:35580031_35580032insATC	ENST00000262878.4	-	1	214_215	c.15_16insGAT	c.(13-18)gaccga>gaGATccga	p.5_5D>EI	SAMHD1_ENST00000373694.5_De_novo_Start_InFrame	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	5					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				GGCTGCTCGGAATCGGCTCGCT	0.693													42	281	---	---	---	---					
ANKRD20A11P	391267	broad.mit.edu	37	21	15343608	15343609	+	RNA	INS	-	-	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr21:15343608_15343609insA	ENST00000344693.5	-	0	736					NR_027270.1																						TAAAACAGCAGAAAAAATTAAT	0.272													11	71	---	---	---	---					
MCAT	27349	broad.mit.edu	37	22	43539128	43539128	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	89cc9e5d-d447-4b1c-9681-4d30a631ec53	g.chr22:43539128delC	ENST00000290429.5	-	1	272	c.227delG	c.(226-228)gcfs	p.G76fs	MCAT_ENST00000327555.5_Frame_Shift_Del_p.G76fs|MCAT_ENST00000464244.1_5'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	76					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				GCGGCCCATGCCCACCACCTG	0.746													2	4	---	---	---	---					
