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
CAND2	23066	broad.mit.edu	37	3	12868994	12868994	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:12868994C>T	ENST00000456430.2	+	13	3307	c.3266C>T	c.(3265-3267)gCg>gTg	p.A1089V	CAND2_ENST00000295989.5_Missense_Mutation_p.A972V	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	1089					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GTGCGGAAGGCGGCCTTTGAA	0.562000													3	41					0	0	0.009096	0	0
ZNF280B	140883	broad.mit.edu	37	22	22843194	22843194	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr22:22843194G>C	ENST00000360412.2	-	4	1305	c.530C>G	c.(529-531)aCt>aGt	p.T177S	ZNF280B_ENST00000406426.1_Missense_Mutation_p.T177S	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TACTTCGAAAGTGGAAAGTTG	0.383000													68	66					0	0	0.014410	0	0
C16orf71	146562	broad.mit.edu	37	16	4797521	4797521	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:4797521G>C	ENST00000299320.5	+	9	1936	c.1458G>C	c.(1456-1458)caG>caC	p.Q486H	C16orf71_ENST00000590191.1_Missense_Mutation_p.Q503H|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	486										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CCAAGGGGCAGAGCGCCCAGG	0.667000													13	15					0	0	0.002450	0	0
IGHA1	3493	broad.mit.edu	37	14	106174285	106174285	+	RNA	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:106174285C>G	ENST00000390547.2	-	0	503																											GAACAGCGCTCTTCCCACTTG	0.602000													4	6					0	0	0.009096	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378227	31378227	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:31378227G>A	ENST00000297142.3	-	2	978	c.656C>T	c.(655-657)cCc>cTc	p.P219L		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	219					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						ATGCCCTGGGGGAGTGGTGAG	0.527000													26	54					0	0	0.007291	0	0
MYO18A	399687	broad.mit.edu	37	17	27409400	27409400	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:27409400G>T	ENST00000527372.1	-	41	6134	c.5954C>A	c.(5953-5955)tCc>tAc	p.S1985Y	TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000354329.4_Missense_Mutation_p.S1985Y|MYO18A_ENST00000533112.1_Missense_Mutation_p.S1933Y|MYO18A_ENST00000531253.1_Missense_Mutation_p.S1970Y	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1985					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGACAACCAGGACTTGACCCC	0.532000													21	50					8.04996e-18	1.04066e-17	0.012319	1	0
RPS6KA2	6196	broad.mit.edu	37	6	167271702	167271702	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:167271702C>A	ENST00000510118.1	-	2	449	c.109G>T	c.(109-111)Gac>Tac	p.D37Y	RP11-514O12.4_ENST00000507747.1_Missense_Mutation_p.K160N|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.D37Y			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	0					axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TCTGCAGTGTCTTCTGTGGTG	0.443000													10	41					3.62473e-10	4.20998e-10	0.012319	1	0
DNAH5	1767	broad.mit.edu	37	5	13900483	13900483	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:13900483C>T	ENST00000265104.4	-	15	2195	c.2091G>A	c.(2089-2091)ttG>ttA	p.L697L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	697	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAGCCTTCACCAATAATGAAG	0.408000									Kartagener syndrome				7	60					0	0	0.003080	0	0
ATRNL1	26033	broad.mit.edu	37	10	117026300	117026300	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:117026300C>A	ENST00000355044.3	+	12	1925	c.1799C>A	c.(1798-1800)tCt>tAt	p.S600Y		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	600						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GGGGGATTTTCTAGTGTACTC	0.318000													35	57					1.60099e-16	2.02852e-16	0.004878	1	0
ANAPC1	64682	broad.mit.edu	37	2	112541901	112541901	+	Splice_Site	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:112541901T>A	ENST00000341068.3	-	41	5766	c.4995_splice	c.e41+1	p.Q1665_splice		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1665					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CCAGCTTACCTGCTTTAAAAG	0.438000													37	139					0	0	0.006999	0	0
MDGA2	161357	broad.mit.edu	37	14	47389219	47389219	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:47389219C>T	ENST00000426342.1	-	10	2086	c.1340G>A	c.(1339-1341)aGg>aAg	p.R447K	MDGA2_ENST00000399232.2_Missense_Mutation_p.R745K|MDGA2_ENST00000357362.3_Missense_Mutation_p.R447K|MDGA2_ENST00000439988.2_Missense_Mutation_p.R676K	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	676	Ig-like 5.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCTCACCTGCCTGATGCCCAA	0.413000													10	27					0	0	0.010729	0	0
CHEK1	1111	broad.mit.edu	37	11	125525182	125525182	+	Silent	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:125525182G>C	ENST00000534070.1	+	13	1653	c.1398G>C	c.(1396-1398)gtG>gtC	p.V466V	CHEK1_ENST00000544373.1_Silent_p.V432V|CHEK1_ENST00000524737.1_Silent_p.V466V|CHEK1_ENST00000278916.3_Silent_p.V422V|CHEK1_ENST00000428830.2_Silent_p.V466V|CHEK1_ENST00000427383.2_Silent_p.V482V|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000438015.1_Silent_p.V466V	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	466	Autoinhibitory region.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TTGATATTGTGAGCAGCCAGA	0.398000								Other conserved DNA damage response genes					9	18					0	0	0.006214	0	0
LGR5	8549	broad.mit.edu	37	12	71978435	71978435	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:71978435C>T	ENST00000266674.5	+	18	2956	c.2645C>T	c.(2644-2646)cCc>cTc	p.P882L	LGR5_ENST00000540815.2_Missense_Mutation_p.P858L|LGR5_ENST00000536515.1_Missense_Mutation_p.P810L			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	882						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GACCTGCCTCCCAGTTCCGTG	0.448000													66	75					0	0	0.014410	0	0
TRAV8-3	28683	broad.mit.edu	37	14	22321161	22321161	+	RNA	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:22321161G>T	ENST00000390435.1	+	0	319																											TGATGCTGCTGAGTACTTCTG	0.478000													42	21					6.5261e-18	8.46117e-18	0.008740	1	0
HPS4	89781	broad.mit.edu	37	22	26860632	26860632	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr22:26860632T>C	ENST00000398145.2	-	11	1580	c.964A>G	c.(964-966)Agg>Ggg	p.R322G	HPS4_ENST00000336873.5_Missense_Mutation_p.R322G|HPS4_ENST00000398141.1_Missense_Mutation_p.R335G|HPS4_ENST00000402105.3_Missense_Mutation_p.R317G	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	322					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TTCTCCTTCCTGCCATCTGGA	0.587000									Hermansky-Pudlak syndrome				16	67					0	0	0.006122	0	0
TEC	7006	broad.mit.edu	37	4	48152891	48152891	+	Silent	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:48152891G>C	ENST00000381501.3	-	10	1018	c.861C>G	c.(859-861)acC>acG	p.T287T	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	287	SH2.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CTCCAAACTTGGTATAAAGGG	0.313000													27	126					0	0	0.008361	0	0
ZNF829	374899	broad.mit.edu	37	19	37382725	37382725	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:37382725G>A	ENST00000520965.1	-	6	1277	c.1211C>T	c.(1210-1212)cCt>cTt	p.P404L	ZNF345_ENST00000526123.1_Intron|ZNF829_ENST00000391711.3_Missense_Mutation_p.P323L|ZNF345_ENST00000432005.2_Intron	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACATTCATAAGGTTTCTCACC	0.403000													17	68					0	0	0.006122	0	0
TAF1L	138474	broad.mit.edu	37	9	32634220	32634220	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr9:32634220G>T	ENST00000242310.4	-	1	1447	c.1358C>A	c.(1357-1359)gCa>gAa	p.A453E	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	453					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AAGCCAGCCTGCCAGGCTTGC	0.468000													71	50					1.37693e-34	1.97464e-34	0.014410	1	0
MBD4	8930	broad.mit.edu	37	3	129155702	129155702	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:129155702C>A	ENST00000429544.2	-	3	980	c.785G>T	c.(784-786)aGc>aTc	p.S262I	MBD4_ENST00000507208.1_Missense_Mutation_p.S262I|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000503197.1_Missense_Mutation_p.S262I|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000249910.1_Missense_Mutation_p.S262I	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	262					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TTCTCTTTTGCTATCACTTTG	0.378000								Base excision repair (BER), DNA glycosylases					4	211					0.014758	0.015166	0.014758	1	0
DZIP3	9666	broad.mit.edu	37	3	108335438	108335438	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:108335438G>A	ENST00000361582.3	+	5	539	c.309G>A	c.(307-309)ttG>ttA	p.L103L	DZIP3_ENST00000463306.1_Silent_p.L103L	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	103					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TTCCTGCTTTGACTTTACGTT	0.353000													20	62					0	0	0.010504	0	0
RALGDS	5900	broad.mit.edu	37	9	136030665	136030665	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr9:136030665C>T	ENST00000542690.1	-	6	576	c.296G>A	c.(295-297)gGc>gAc	p.G99D	GBGT1_ENST00000372038.3_Missense_Mutation_p.G99D|GBGT1_ENST00000372043.3_Missense_Mutation_p.A87T|GBGT1_ENST00000372040.3_Missense_Mutation_p.A87T|GBGT1_ENST00000540636.1_Missense_Mutation_p.A70T|GBGT1_ENST00000472281.1_5'UTR			Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	0					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		ACGATGGGCGCCAACCAGGGT	0.622000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								19	14					0	0	0.012319	0	0
TTN	7273	broad.mit.edu	37	2	179578646	179578646	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:179578646G>T	ENST00000589042.1	-	92	26963	c.26739C>A	c.(26737-26739)tgC>tgA	p.C8913*	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.C7669*|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.C8596*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8596	Ig-like 72.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGAAGCTGTGCAGCTGTCTT	0.408000													25	35					5.61819e-17	7.17969e-17	0.005443	1	0
USH2A	7399	broad.mit.edu	37	1	215953214	215953214	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:215953214G>A	ENST00000366943.2	-	55	11296	c.10910C>T	c.(10909-10911)aCc>aTc	p.T3637I	USH2A_ENST00000307340.3_Missense_Mutation_p.T3637I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3637	Fibronectin type-III 21.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCTGTCAGTGGTGTCAGTGTG	0.498000										HNSCC(13;0.011)			52	55					0	0	0.014410	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5146383	5146383	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:5146383C>A	ENST00000274181.7	+	3	454	c.316C>A	c.(316-318)Cac>Aac	p.H106N	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.H106N|CTD-2297D10.1_ENST00000514848.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	106					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGGCTCCAGGCACGACTTCCA	0.542000													54	28					4.73848e-44	6.8173e-44	0.014410	1	0
EVX2	344191	broad.mit.edu	37	2	176947080	176947080	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:176947080G>T	ENST00000308618.4	-	2	661	c.525C>A	c.(523-525)agC>agA	p.S175R		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	175						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CCAGCGCCGCGCTCCCGCCGC	0.721000													9	21					1.58986e-06	1.73794e-06	0.008291	1	0
FMN2	56776	broad.mit.edu	37	1	240256593	240256593	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:240256593C>T	ENST00000319653.9	+	1	1414	c.1184C>T	c.(1183-1185)gCt>gTt	p.A395V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	395					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCGCGGCCGCTTCCCTGCCC	0.726000													20	17					0	0	0.012319	0	0
EVA1A	84141	broad.mit.edu	37	2	75720630	75720630	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:75720630C>T	ENST00000233712.1	-	4	628	c.191G>A	c.(190-192)aGg>aAg	p.R64K	EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000410010.1_Missense_Mutation_p.R52K|EVA1A_ENST00000410071.1_Missense_Mutation_p.R64K|EVA1A_ENST00000393913.3_Missense_Mutation_p.R64K|EVA1A_ENST00000410113.1_Missense_Mutation_p.R64K	NM_032181.2	NP_115557.1			eva-1 homolog A (C. elegans)																		GGGACGCCGCCTGCAGTCTGT	0.607000													25	29					0	0	0.006320	0	0
DST	667	broad.mit.edu	37	6	56357099	56357099	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:56357099G>A	ENST00000370754.5	-	85	20589	c.20590C>T	c.(20590-20592)Cga>Tga	p.R6864*	DST_ENST00000421834.2_Nonsense_Mutation_p.R4598*|DST_ENST00000370769.4_Nonsense_Mutation_p.R6686*|DST_ENST00000361203.3_Nonsense_Mutation_p.R6575*|DST_ENST00000446842.2_Nonsense_Mutation_p.R6360*|DST_ENST00000370788.2_Nonsense_Mutation_p.R4489*|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Nonsense_Mutation_p.R4272*			Q03001	DYST_HUMAN	dystonin	6684					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.R6686*(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTTCCCATCGACTTTGTACA	0.383000													18	72					0	0	0.008871	0	0
FAM181A	90050	broad.mit.edu	37	14	94391643	94391643	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:94391643C>A	ENST00000267594.5	+	2	333	c.26C>A	c.(25-27)tCt>tAt	p.S9Y	FAM181A_ENST00000557719.1_Intron|FAM181A-AS1_ENST00000554742.1_RNA	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	9										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						AGAAGATCTTCTGGAGAGAGG	0.557000													18	45					8.34094e-07	9.1627e-07	0.008871	1	0
KIF2B	84643	broad.mit.edu	37	17	51902367	51902367	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:51902367A>T	ENST00000268919.4	+	1	2129	c.1973A>T	c.(1972-1974)aAa>aTa	p.K658I		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	658					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATCCAAAAGAAACTGAAATTA	0.458000													30	47					0	0	0.007291	0	0
C14orf37	145407	broad.mit.edu	37	14	58598275	58598275	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:58598275C>A	ENST00000267485.7	-	4	1980	c.1786G>T	c.(1786-1788)Gtt>Ttt	p.V596F	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	596						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GCTGTATTAACACGAGTAATA	0.478000													28	31					2.65835e-16	3.34922e-16	0.007291	1	0
DYNC1I1	1780	broad.mit.edu	37	7	95664996	95664996	+	Silent	SNP	G	G	A	rs142103982		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:95664996G>A	ENST00000324972.6	+	13	1540	c.1347G>A	c.(1345-1347)acG>acA	p.T449T	DYNC1I1_ENST00000447467.2_Silent_p.T432T|DYNC1I1_ENST00000359388.4_Silent_p.T412T|DYNC1I1_ENST00000537881.1_Silent_p.T412T|DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000437599.1_Silent_p.T429T|DYNC1I1_ENST00000457059.1_Silent_p.T432T	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	449					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	p.T449T(2)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CTTTCCCAACGGGAGACGTCA	0.473000													50	138					0	0	0.014410	0	0
KIAA1199	57214	broad.mit.edu	37	15	81241181	81241181	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:81241181C>G	ENST00000394685.3	+	30	4421	c.4002C>G	c.(4000-4002)atC>atG	p.I1334M	KIAA1199_ENST00000356249.5_Missense_Mutation_p.I1334M|RP11-351M8.2_ENST00000560873.1_RNA|MESDC2_ENST00000560244.1_5'UTR|KIAA1199_ENST00000220244.3_Missense_Mutation_p.I1334M			Q8WUJ3	K1199_HUMAN	KIAA1199	1334										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TCCGGCCCATCTGGGTGACAC	0.532000													44	118					0	0	0.014410	0	0
CRYBG3	131544	broad.mit.edu	37	3	97596761	97596761	+	Silent	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:97596761G>T	ENST00000182096.4	+	1	943	c.879G>T	c.(877-879)ctG>ctT	p.L293L		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						ATCAGTATCTGCAGACTTCCC	0.418000													10	56					7.03913e-09	7.96815e-09	0.013537	1	0
RGS7	6000	broad.mit.edu	37	1	240975331	240975331	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:240975331G>T	ENST00000366565.1	-	14	1350	c.969C>A	c.(967-969)agC>agA	p.S323R	RGS7_ENST00000366563.1_Missense_Mutation_p.S323R|RGS7_ENST00000366564.1_Missense_Mutation_p.S323R|RGS7_ENST00000446183.2_Missense_Mutation_p.S239R|RGS7_ENST00000348120.2_Missense_Mutation_p.S270R|RGS7_ENST00000407727.1_Missense_Mutation_p.S323R|RGS7_ENST00000366562.4_Missense_Mutation_p.S323R|RGS7_ENST00000401882.1_Missense_Mutation_p.S270R|RGS7_ENST00000331110.7_Missense_Mutation_p.S297R	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	323					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CCCTCTGCTGGCTCGGTTCTT	0.393000													38	58					1.49673e-21	2.01067e-21	0.006230	1	0
LILRA2	11027	broad.mit.edu	37	19	55087488	55087488	+	Missense_Mutation	SNP	C	C	A	rs140195058		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:55087488C>A	ENST00000251377.3	+	7	1300	c.1167C>A	c.(1165-1167)caC>caA	p.H389Q	LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.H377Q|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.H389Q|LILRA2_ENST00000251376.3_Missense_Mutation_p.H389Q|LILRB1_ENST00000418536.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCTCAGCCCACGTGGGGACCT	0.622000													43	78					9.14704e-12	1.09962e-11	0.008740	1	0
RFPL4B	442247	broad.mit.edu	37	6	112671163	112671163	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:112671163C>A	ENST00000441065.2	+	3	565	c.253C>A	c.(253-255)Cac>Aac	p.H85N	RP11-506B6.6_ENST00000587816.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	85	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		GCAAAGTCTGCACGTGAGGGA	0.537000													13	19					2.31682e-05	2.47202e-05	0.003163	1	0
NOTCH2NL	388677	broad.mit.edu	37	1	145273384	145273384	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:145273384G>T	ENST00000369340.3	+	4	682	c.238G>T	c.(238-240)Ggc>Tgc	p.G80C	RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.G80C|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.G80C|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.G80C			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	80	EGF-like 3.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						CCTGAATGGCGGCACATGCCA	0.532000													48	524					5.57489e-27	7.79436e-27	0.014410	1	0
COL12A1	1303	broad.mit.edu	37	6	75806969	75806969	+	Splice_Site	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:75806969C>T	ENST00000322507.8	-	59	8886	c.8577_splice	c.e59+1	p.P2859_splice	COL12A1_ENST00000483888.2_Intron|COL12A1_ENST00000416123.2_Splice_Site_p.P2783_splice|COL12A1_ENST00000345356.6_Splice_Site_p.P1695_splice|COL12A1_ENST00000511023.1_5'UTR	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2859	Triple-helical region (COL2) with 1 imperfection.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TAGTTCTTACCGGCGGCCCTG	0.483000													17	46					0	0	0.012319	0	0
ANO3	63982	broad.mit.edu	37	11	26529699	26529699	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:26529699A>T	ENST00000256737.3	+	5	1333	c.481A>T	c.(481-483)Aaa>Taa	p.K161*	ANO3_ENST00000525139.1_Nonsense_Mutation_p.K145*|ANO3_ENST00000531646.1_Nonsense_Mutation_p.K161*|ANO3_ENST00000531568.1_Nonsense_Mutation_p.K15*|ANO3_ENST00000537978.1_Nonsense_Mutation_p.K145*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	161						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CAAAGATGGCAAAAAGAGAAT	0.338000													8	32					0	0	0.006214	0	0
SNX15	29907	broad.mit.edu	37	11	64795103	64795103	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:64795103G>C	ENST00000377244.3	+	1	224	c.94G>C	c.(94-96)Gcg>Ccg	p.A32P	SNX15_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	32	PX.				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						CAAAGTAACCGCGCAGGTGAG	0.577000											OREG0021069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	26					0	0	0.008291	0	0
PRX	57716	broad.mit.edu	37	19	40901621	40901621	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:40901621C>T	ENST00000324001.7	-	7	2908	c.2638G>A	c.(2638-2640)Gag>Aag	p.E880K	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	880					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCCACCCGCTCTCCCTTGCCC	0.632000													9	26					0	0	0.007413	0	0
GAK	2580	broad.mit.edu	37	4	845576	845576	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:845576C>A	ENST00000314167.4	-	25	3580	c.3470G>T	c.(3469-3471)gGg>gTg	p.G1157V	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.G1078V	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1157					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CTCCCGCGCCCCGATCACACT	0.647000													28	23					8.58068e-18	1.10606e-17	0.007291	1	0
FAM65C	140876	broad.mit.edu	37	20	49225879	49225879	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:49225879G>C	ENST00000327979.2	-	8	990	c.579C>G	c.(577-579)atC>atG	p.I193M	FAM65C_ENST00000045083.2_Missense_Mutation_p.I193M|FAM65C_ENST00000535356.1_Missense_Mutation_p.I197M			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	193										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGCCCCCTCGATGAGCCACA	0.647000													6	11					0	0	0.001984	0	0
THBS2	7058	broad.mit.edu	37	6	169629677	169629677	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:169629677G>T	ENST00000366787.3	-	15	2498	c.2249C>A	c.(2248-2250)aCc>aAc	p.T750N	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	750					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CTTCTCATCGGTCACACCGTC	0.557000													11	100					6.40141e-05	6.78154e-05	0.010729	1	0
RTCA	8634	broad.mit.edu	37	1	100752670	100752670	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:100752670G>A	ENST00000370128.4	+	10	1079	c.910G>A	c.(910-912)Gca>Aca	p.A304T	RTCA_ENST00000260563.4_Missense_Mutation_p.A317T	NM_003729.3	NP_003720.1	O00442	RTC1_HUMAN	RNA 3'-terminal phosphate cyclase	304					RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity										TGTTTTCATGGCATTAGCCAA	0.338000													3	42					0	0	0.009096	0	0
CNOT1	23019	broad.mit.edu	37	16	58610398	58610398	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:58610398G>A	ENST00000317147.5	-	14	2005	c.1673C>T	c.(1672-1674)tCt>tTt	p.S558F	CNOT1_ENST00000569240.1_Missense_Mutation_p.S558F|CNOT1_ENST00000441024.2_Missense_Mutation_p.S558F	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	558					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AAGTATTCGAGACAATTTGGC	0.483000													7	39					0	0	0.003080	0	0
ZNF668	79759	broad.mit.edu	37	16	31072519	31072519	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:31072519C>A	ENST00000538906.1	-	3	2514	c.1730G>T	c.(1729-1731)tGt>tTt	p.C577F	ZNF668_ENST00000300849.4_Missense_Mutation_p.C577F|ZNF668_ENST00000426488.2_Missense_Mutation_p.C600F|ZNF668_ENST00000539836.3_Missense_Mutation_p.C600F|ZNF668_ENST00000535577.1_Missense_Mutation_p.C577F|ZNF668_ENST00000394983.2_Missense_Mutation_p.C577F	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	577					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GGCCTTGGGACAATGGGGGCA	0.652000													14	60					1.33834e-09	1.53051e-09	0.007413	1	0
ANK2	287	broad.mit.edu	37	4	114274404	114274404	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:114274404G>C	ENST00000357077.4	+	38	4683	c.4630G>C	c.(4630-4632)Gag>Cag	p.E1544Q	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E1511Q|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1511					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGCTGAGGAAGAGCCAGGAGA	0.433000													13	47					0	0	0.001855	0	0
HMCN1	83872	broad.mit.edu	37	1	185939517	185939517	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:185939517G>T	ENST00000271588.4	+	15	2492	c.2263G>T	c.(2263-2265)Gga>Tga	p.G755*	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Nonsense_Mutation_p.G755*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	755	Ig-like C2-type 4.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCCTCTCTTGGGACTTTTGAA	0.408000													84	191					7.68447e-34	1.09498e-33	0.014410	1	0
TTN	7273	broad.mit.edu	37	2	179611834	179611834	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:179611834G>A	ENST00000360870.5	-	46	15515	c.15293C>T	c.(15292-15294)cCc>cTc	p.P5098L	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1206	Ig-like 31.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTCCTGGGGGTGTGGAGTA	0.522000													58	89					0	0	0.014410	0	0
ABCA13	154664	broad.mit.edu	37	7	48443311	48443311	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:48443311C>T	ENST00000435803.1	+	39	11929	c.11905C>T	c.(11905-11907)Cag>Tag	p.Q3969*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3969	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AACTCAGCATCAGCACAAACA	0.478000													24	18					0	0	0.016522	0	0
ADAM8	101	broad.mit.edu	37	10	135084731	135084731	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:135084731C>T	ENST00000445355.3	-	13	1397	c.1347G>A	c.(1345-1347)gcG>gcA	p.A449A	ADAM8_ENST00000485491.2_Silent_p.A410A|ADAM8_ENST00000415217.3_Silent_p.A449A	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN	ADAM metallopeptidase domain 8	410					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity	p.A449A(1)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		AGGTACCGTGCGCACACTGGG	0.687000													4	9					0	0	0.014758	0	0
GALNT2	2590	broad.mit.edu	37	1	230338962	230338962	+	Silent	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:230338962C>G	ENST00000366672.4	+	3	372	c.300C>G	c.(298-300)gcC>gcG	p.A100A	GALNT2_ENST00000541865.1_Silent_p.A10A|GALNT2_ENST00000543760.1_Silent_p.A62A	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	100					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				ACCCTTACGCCCGCAACAAGT	0.552000													38	114					0	0	0.006230	0	0
PAK7	57144	broad.mit.edu	37	20	9525142	9525142	+	Splice_Site	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:9525142C>A	ENST00000378429.3	-	9	2290		c.e9-1		PAK7_ENST00000378423.1_Splice_Site|PAK7_ENST00000353224.5_Splice_Site	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7								ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ACAACTTTATCTGAAAAGGAA	0.388000													12	45					4.3838e-07	4.83954e-07	0.001855	1	0
NCKAP5	344148	broad.mit.edu	37	2	133721320	133721320	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:133721320C>T	ENST00000409261.1	-	8	925	c.552G>A	c.(550-552)ttG>ttA	p.L184L	NCKAP5_ENST00000317721.6_Silent_p.L184L|NCKAP5_ENST00000409213.1_Silent_p.L184L|NCKAP5_ENST00000405974.3_Silent_p.L184L	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	184							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCTCTAATAGCAATTTGGTCT	0.368000													48	102					0	0	0.014410	0	0
DNAH7	56171	broad.mit.edu	37	2	196891496	196891496	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:196891496T>A	ENST00000312428.6	-	7	755	c.655A>T	c.(655-657)Agg>Tgg	p.R219W	DNAH7_ENST00000410072.1_Missense_Mutation_p.R219W	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	219	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATGGATTTCCTTACACTAAGA	0.294000													8	23					0	0	0.006214	0	0
LOC150776	150776	broad.mit.edu	37	2	132277805	132277805	+	RNA	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:132277805A>T	ENST00000438378.2	+	0	2444					NR_026922.1																						GGCCGGCCACACCCGCGGCCC	0.682000													8	5					0	0	0.004482	0	0
SLIT3	6586	broad.mit.edu	37	5	168671713	168671713	+	Silent	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:168671713G>T	ENST00000519560.1	-	3	756	c.337C>A	c.(337-339)Cga>Aga	p.R113R	SLIT3_ENST00000521130.1_5'UTR|SLIT3_ENST00000404867.3_Silent_p.R113R|SLIT3_ENST00000332966.8_Silent_p.R113R	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	113					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTTACAGTCGCTCTAGCTGC	0.413000													10	22					9.70103e-10	1.118e-09	0.008291	1	0
MPP5	64398	broad.mit.edu	37	14	67768786	67768786	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:67768786G>T	ENST00000261681.4	+	6	1413	c.752G>T	c.(751-753)gGa>gTa	p.G251V	MPP5_ENST00000555925.1_Missense_Mutation_p.G217V	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	251					tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		CAGTATGGAGGAGAAACTGTA	0.418000													35	36					2.05212e-20	2.72394e-20	0.005524	1	0
SLC22A12	116085	broad.mit.edu	37	11	64359366	64359366	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:64359366C>G	ENST00000377574.1	+	1	1085	c.338C>G	c.(337-339)aCg>aGg	p.T113R	SLC22A12_ENST00000377567.2_Missense_Mutation_p.T113R|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000336464.7_Missense_Mutation_p.T113R|SLC22A12_ENST00000377572.1_Missense_Mutation_p.T113R	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	113					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						GAGGCCGACACGGAGCCGTGT	0.672000													9	26					0	0	0.004482	0	0
TNR	7143	broad.mit.edu	37	1	175306678	175306678	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:175306678C>A	ENST00000367674.1	-	19	4228	c.3520G>T	c.(3520-3522)Ggg>Tgg	p.G1174W	TNR_ENST00000263525.2_Missense_Mutation_p.G1174W	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1174	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CAGCCGCCCCCGTCGGTGGTC	0.507000													35	52					2.87052e-16	3.60634e-16	0.005524	1	0
ACAN	176	broad.mit.edu	37	15	89382097	89382097	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:89382097G>T	ENST00000439576.2	+	3	648	c.274G>T	c.(274-276)Ggg>Tgg	p.G92W	ACAN_ENST00000558207.1_Missense_Mutation_p.G92W|ACAN_ENST00000352105.7_Missense_Mutation_p.G92W|ACAN_ENST00000559004.1_Missense_Mutation_p.G92W|ACAN_ENST00000561243.1_Missense_Mutation_p.G92W	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	92					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGCCACTGAAGGGCGCGTGCG	0.632000													7	86					1.06961e-07	1.19262e-07	0.003080	1	0
ATRX	546	broad.mit.edu	37	X	76938209	76938209	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chrX:76938209A>T	ENST00000373344.5	-	9	2753	c.2539T>A	c.(2539-2541)Ttt>Att	p.F847I	ATRX_ENST00000395603.3_Missense_Mutation_p.F809I|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	847					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GAAGAGTCAAAATCTTTTGTA	0.348000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						101	175					0	0	0.014410	0	0
SNHG14	104472715	broad.mit.edu	37	15	25337128	25337128	+	RNA	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:25337128G>T	ENST00000546682.1	+	0	969				SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						GTCCACTTTGGATCAAAGGGA	0.532000													14	20					9.31168e-06	1.00801e-05	0.001855	1	0
ROBO1	6091	broad.mit.edu	37	3	78701019	78701019	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:78701019T>A	ENST00000436010.2	-	17	3555	c.2558A>T	c.(2557-2559)gAt>gTt	p.D853V	ROBO1_ENST00000464233.1_Missense_Mutation_p.D892V|ROBO1_ENST00000495273.1_Missense_Mutation_p.D856V|ROBO1_ENST00000467549.1_Missense_Mutation_p.D856V			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	892	Fibronectin type-III 3.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CTTCACCACATCTGAAATCTG	0.498000													51	39					0	0	0.014410	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156717623	156717623	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:156717623T>A	ENST00000264424.8	+	8	1020	c.938T>A	c.(937-939)tTa>tAa	p.L313*	GUCY1B3_ENST00000505154.1_Nonsense_Mutation_p.L245*|GUCY1B3_ENST00000513437.1_Nonsense_Mutation_p.L245*|GUCY1B3_ENST00000507146.1_Nonsense_Mutation_p.L245*|GUCY1B3_ENST00000502959.1_Nonsense_Mutation_p.L335*|GUCY1B3_ENST00000503520.1_Nonsense_Mutation_p.L313*|GUCY1B3_ENST00000505764.1_Nonsense_Mutation_p.L293*	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	313					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		ATGATCTACTTACCTGAAGCA	0.373000													11	25					0	0	0.013537	0	0
CAPN6	827	broad.mit.edu	37	X	110495672	110495672	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chrX:110495672C>A	ENST00000324068.1	-	5	729	c.562G>T	c.(562-564)Gac>Tac	p.D188Y	CAPN6_ENST00000541758.1_Intron	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	188	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCCGTGAAGTCCACAATAATA	0.433000													35	14					6.70999e-13	8.13221e-13	0.004289	1	0
GHSR	2693	broad.mit.edu	37	3	172163255	172163255	+	Splice_Site	SNP	G	G	C	rs147508651		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:172163255G>C	ENST00000241256.2	-	2	839	c.796_splice	c.e2-1	p.A266_splice		NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	266					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	p.A266D(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CACCACTACAGCTAAAAGGAC	0.428000													15	24					0	0	0.003163	0	0
MATR3	9782	broad.mit.edu	37	5	138654693	138654693	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:138654693C>T	ENST00000394800.2	+	12	1954	c.1405C>T	c.(1405-1407)Cat>Tat	p.H469Y	MATR3_ENST00000503811.1_Missense_Mutation_p.H181Y|MATR3_ENST00000502929.1_Missense_Mutation_p.H469Y|MATR3_ENST00000502499.1_Missense_Mutation_p.H131Y|MATR3_ENST00000361059.2_Missense_Mutation_p.H469Y|MATR3_ENST00000510056.1_Missense_Mutation_p.H469Y|MATR3_ENST00000394805.3_Missense_Mutation_p.H469Y|MATR3_ENST00000504203.1_Missense_Mutation_p.H131Y|MATR3_ENST00000509990.1_Missense_Mutation_p.H469Y			P43243	MATR3_HUMAN	matrin 3	469	RRM 1.					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGTGAGAGTTCATTTATCCCA	0.348000													9	23					0	0	0.004482	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3469391	3469391	+	Silent	SNP	G	G	C	rs116179331	byFrequency	TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:3469391G>C	ENST00000324266.5	+	9	1896	c.1701G>C	c.(1699-1701)gcG>gcC	p.A567A	TRAPPC12_ENST00000469147.1_3'UTR|TRAPPC12_ENST00000382110.2_Silent_p.A567A	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	567							binding										CCGTGGAGGCGTATCATTCGG	0.527000													53	67					0	0	0.014410	0	0
NLRX1	79671	broad.mit.edu	37	11	119050721	119050721	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:119050721A>T	ENST00000409109.1	+	7	2578	c.1991A>T	c.(1990-1992)aAg>aTg	p.K664M	NLRX1_ENST00000525863.1_Missense_Mutation_p.K664M|NLRX1_ENST00000409265.4_Missense_Mutation_p.K664M|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000292199.2_Missense_Mutation_p.K664M|NLRX1_ENST00000409991.1_Missense_Mutation_p.K664M			Q86UT6	NLRX1_HUMAN	NLR family member X1	664	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AAGCTGGGCAAGCTGGGCCGG	0.602000													5	22					0	0	0.014758	0	0
CCDC25	55246	broad.mit.edu	37	8	27606107	27606107	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:27606107T>C	ENST00000356537.4	-	6	346	c.253A>G	c.(253-255)Atg>Gtg	p.M85V	RP11-16P20.3_ENST00000521510.1_RNA|CCDC25_ENST00000539095.1_Missense_Mutation_p.M17V|CCDC25_ENST00000522915.1_Missense_Mutation_p.M17V	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	85										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		ACGTTGTTCATCTTGCAGCCT	0.488000													18	111					0	0	0.006122	0	0
UBR5	51366	broad.mit.edu	37	8	103373366	103373366	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:103373366G>A	ENST00000520539.1	-	3	782	c.176C>T	c.(175-177)gCc>gTc	p.A59V	UBR5_ENST00000220959.4_Missense_Mutation_p.A59V|UBR5_ENST00000521922.1_Missense_Mutation_p.A59V	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	59					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AAGAAGAAAGGCAGCATGATT	0.333000													9	44					0	0	0.010729	0	0
SLC39A6	25800	broad.mit.edu	37	18	33689681	33689681	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr18:33689681T>A	ENST00000269187.5	-	10	2356	c.2143A>T	c.(2143-2145)Agt>Tgt	p.S715C	SLC39A6_ENST00000590986.1_Missense_Mutation_p.S715C	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	715						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						CCATGGTCACTAGCATCATTG	0.328000													33	69					0	0	0.010818	0	0
VPS13C	54832	broad.mit.edu	37	15	62182498	62182498	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:62182498G>A	ENST00000261517.5	-	67	9280	c.9207C>T	c.(9205-9207)gcC>gcT	p.A3069A	VPS13C_ENST00000395898.3_Silent_p.A3026A|VPS13C_ENST00000249837.3_Silent_p.A3026A|VPS13C_ENST00000395896.4_Silent_p.A3069A	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3069					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGGAAACCAAGGCAACATCAT	0.438000													10	55					0	0	0.006214	0	0
FAIM3	9214	broad.mit.edu	37	1	207095236	207095236	+	Translation_Start_Site	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:207095236C>A	ENST00000367091.3	-	0	107				FAIM3_ENST00000528654.1_5'UTR|FAIM3_ENST00000442471.2_De_novo_Start_OutOfFrame	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3						anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					CCAAGAGCCCCTAGAGAGGGG	0.517000													19	34					1.00905e-13	1.24319e-13	0.008871	1	0
ZNF585B	92285	broad.mit.edu	37	19	37676276	37676276	+	Silent	SNP	A	A	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:37676276A>G	ENST00000532828.2	-	5	2414	c.2163T>C	c.(2161-2163)gcT>gcC	p.A721A	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Silent_p.A666A|ZNF585B_ENST00000312908.5_Silent_p.A309A|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	721					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCCCACACTCAGCACACACGT	0.463000													37	115					0	0	0.004878	0	0
LRFN5	145581	broad.mit.edu	37	14	42356760	42356760	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:42356760G>T	ENST00000554171.1	+	5	3364	c.932G>T	c.(931-933)aGg>aTg	p.R311M	LRFN5_ENST00000554120.1_Missense_Mutation_p.R311M|LRFN5_ENST00000298119.4_Missense_Mutation_p.R311M			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	311	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGCAAAGCCAGGGGAGACCCT	0.468000										HNSCC(30;0.082)			42	47					3.09479e-21	4.14497e-21	0.006999	1	0
OR6F1	343169	broad.mit.edu	37	1	247875907	247875907	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:247875907T>G	ENST00000302084.2	-	1	198	c.151A>C	c.(151-153)Acc>Ccc	p.T51P	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGATGGGAGGTGCTCACCAAC	0.473000													41	80					0	0	0.006999	0	0
SOGA1	140710	broad.mit.edu	37	20	35422872	35422872	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:35422872C>A	ENST00000237536.4	-	14	3954	c.3613G>T	c.(3613-3615)Ggg>Tgg	p.G1205W	SOGA1_ENST00000357779.3_Missense_Mutation_p.G967W|SOGA1_ENST00000279034.5_Missense_Mutation_p.G967W|SOGA1_ENST00000456801.2_Missense_Mutation_p.G808W	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	967										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TCTGGATCCCCTGGCTCGGAG	0.612000													28	32					1.77063e-15	2.19973e-15	0.005443	1	0
C10orf71	118461	broad.mit.edu	37	10	50531202	50531202	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:50531202C>A	ENST00000374144.3	+	3	900	c.612C>A	c.(610-612)aaC>aaA	p.N204K	C10orf71_ENST00000323868.4_Missense_Mutation_p.N204K			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	204										endometrium(1)	1						AAGTTTCCAACACCCATCAGA	0.532000													6	17					0.00198382	0.00205286	0.001984	1	0
RHCG	51458	broad.mit.edu	37	15	90020344	90020344	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:90020344C>T	ENST00000268122.4	-	8	1274	c.1206G>A	c.(1204-1206)ctG>ctA	p.L402L	RHCG_ENST00000544600.1_Silent_p.L402L	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	402					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					GGGCCATGGCCAGGGTCACCA	0.567000													27	88					0	0	0.005443	0	0
PAM	5066	broad.mit.edu	37	5	102343267	102343267	+	Silent	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:102343267G>T	ENST00000438793.3	+	19	2591	c.2121G>T	c.(2119-2121)cgG>cgT	p.R707R	PAM_ENST00000348126.2_Silent_p.R600R|PAM_ENST00000379787.4_Silent_p.R87R|PAM_ENST00000274392.9_Silent_p.R610R|PAM_ENST00000455264.2_Silent_p.R707R|PAM_ENST00000346918.2_Silent_p.R707R|PAM_ENST00000304400.7_Silent_p.R707R	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	707	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	AAAATGGTCGGATCCAGTGTT	0.433000													21	56					4.35082e-09	4.93757e-09	0.010504	1	0
AGTR1	185	broad.mit.edu	37	3	148459210	148459210	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:148459210A>T	ENST00000542281.1	+	4	834	c.388A>T	c.(388-390)Att>Ttt	p.I130F	AGTR1_ENST00000404754.2_Missense_Mutation_p.I130F|AGTR1_ENST00000349243.3_Missense_Mutation_p.I130F|AGTR1_ENST00000418473.2_Missense_Mutation_p.I130F|AGTR1_ENST00000474935.1_Missense_Mutation_p.I130F|AGTR1_ENST00000461609.1_Missense_Mutation_p.I130F|AGTR1_ENST00000475347.1_Missense_Mutation_p.I130F|AGTR1_ENST00000497524.1_Missense_Mutation_p.I130F|AGTR1_ENST00000402260.1_Missense_Mutation_p.I130F	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	130					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	ATACCTGGCTATTGTTCACCC	0.498000													64	225					0	0	0.014410	0	0
ZFP82	284406	broad.mit.edu	37	19	36884242	36884242	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:36884242C>A	ENST00000392161.3	-	5	1242	c.1000G>T	c.(1000-1002)Ggt>Tgt	p.G334C	ZFP82_ENST00000392171.1_Missense_Mutation_p.G334C	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGTTTCTCACCAGTATGAAGT	0.433000													25	102					1.64293e-13	2.00753e-13	0.003330	1	0
KIF6	221458	broad.mit.edu	37	6	39512286	39512286	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:39512286C>G	ENST00000538893.1	-	12	1495	c.1471G>C	c.(1471-1473)Gaa>Caa	p.E491Q	KIF6_ENST00000373213.4_Intron|KIF6_ENST00000373215.3_Intron|KIF6_ENST00000373216.3_Intron|KIF6_ENST00000287152.7_Intron			Q6ZMV9	KIF6_HUMAN	kinesin family member 6	499					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTACCCCTTTCAAACCAGGAT	0.423000													10	23					0	0	0.006214	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110488740	110488740	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:110488740G>A	ENST00000378402.5	+	52	8865	c.8761G>A	c.(8761-8763)Gaa>Aaa	p.E2921K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2921					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)			TTTATAGGAAGAAGACTATGT	0.259000										HNSCC(38;0.096)			3	4					0	0	0.004672	0	0
HIST1H2AG	8969	broad.mit.edu	37	6	27101036	27101036	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:27101036G>A	ENST00000359193.2	+	1	205	c.186G>A	c.(184-186)gaG>gaA	p.E62E		NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	62					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						TGACCGCCGAGATCCTGGAAC	0.667000													24	44					0	0	0.003954	0	0
CCDC181	57821	broad.mit.edu	37	1	169391451	169391451	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:169391451T>A	ENST00000545005.1	-	4	725	c.218A>T	c.(217-219)cAg>cTg	p.Q73L	CCDC181_ENST00000367806.3_Missense_Mutation_p.Q73L|CCDC181_ENST00000367805.3_Missense_Mutation_p.Q73L|CCDC181_ENST00000491570.1_5'UTR					coiled-coil domain containing 181																		GACCTCATCCTGCAAAGATTT	0.398000													28	26					0	0	0.007291	0	0
RARS2	57038	broad.mit.edu	37	6	88229969	88229969	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:88229969A>T	ENST00000369536.5	-	13	1086	c.1041T>A	c.(1039-1041)gaT>gaA	p.D347E		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	347					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		TTTGTCCTTTATCTGTCTTGG	0.313000													48	86					0	0	0.014410	0	0
ZNF518A	9849	broad.mit.edu	37	10	97917430	97917430	+	RNA	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:97917430G>A	ENST00000534948.1	+	0	2208							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CAAGATGATGGATGGAAAACA	0.373000													24	80					0	0	0.016522	0	0
ALMS1	7840	broad.mit.edu	37	2	73718480	73718480	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:73718480C>T	ENST00000264448.6	+	10	9502	c.9391C>T	c.(9391-9393)Ctt>Ttt	p.L3131F	ALMS1_ENST00000409009.1_Missense_Mutation_p.L3089F	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3131					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACAGCCTTCTCTTCCAGACAG	0.393000													42	67					0	0	0.008740	0	0
FOSL2	2355	broad.mit.edu	37	2	28634831	28634831	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:28634831T>C	ENST00000264716.4	+	4	1360	c.497T>C	c.(496-498)cTg>cCg	p.L166P	FOSL2_ENST00000379619.1_Missense_Mutation_p.L158P|FOSL2_ENST00000545753.1_Missense_Mutation_p.L127P	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	166	Leucine-zipper.				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					AAGTCAGGCCTGCAGAAGGAG	0.582000													3	58					0	0	0.009096	0	0
GABRG2	2566	broad.mit.edu	37	5	161576255	161576255	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:161576255C>A	ENST00000356592.3	+	8	1524	c.1064C>A	c.(1063-1065)aCc>aAc	p.T355N	GABRG2_ENST00000414552.2_Missense_Mutation_p.T395N|GABRG2_ENST00000393933.4_Missense_Mutation_p.T260N|GABRG2_ENST00000361925.4_Missense_Mutation_p.T355N	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	355					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GAGTATGGCACCTTGCATTAT	0.423000													12	43					1.49906e-05	1.60716e-05	0.002450	1	0
ZIC1	7545	broad.mit.edu	37	3	147128846	147128846	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:147128846C>G	ENST00000282928.4	+	1	1676	c.947C>G	c.(946-948)tCc>tGc	p.S316C		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	316					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S316C(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TTCGCGCGCTCCGAGAATTTA	0.552000													30	31					0	0	0.009535	0	0
TCF21	6943	broad.mit.edu	37	6	134210906	134210906	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:134210906C>T	ENST00000367882.4	+	1	631	c.371C>T	c.(370-372)gCg>gTg	p.A124V	RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.A124V	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	124	Helix-loop-helix motif.				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		CTCAGGCTGGCGTCCAGCTAC	0.617000													17	63					0	0	0.007413	0	0
POLQ	10721	broad.mit.edu	37	3	121260261	121260261	+	Silent	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:121260261G>T	ENST00000264233.5	-	3	537	c.409C>A	c.(409-411)Cgg>Agg	p.R137R		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	137	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GCTTTCTTCCGCATTTCCAAA	0.353000								DNA polymerases (catalytic subunits)					47	176					1.00776e-21	1.35788e-21	0.014410	1	0
OCA2	4948	broad.mit.edu	37	15	28090152	28090152	+	Silent	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:28090152C>G	ENST00000354638.3	-	23	2540	c.2385G>C	c.(2383-2385)ggG>ggC	p.G795G	OCA2_ENST00000353809.5_Silent_p.G771G	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	795			G -> R (in OCA2).		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GTTCTGCAATCCCTGCACACA	0.403000									Oculocutaneous Albinism				10	60					0	0	0.008291	0	0
FAT1	2195	broad.mit.edu	37	4	187534263	187534263	+	Splice_Site	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:187534263C>T	ENST00000441802.2	-	13	9672	c.9463_splice	c.e13+1	p.G3155_splice		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3155	Cadherin 29.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGGGAGATACCTGCGTCGGCA	0.567000										HNSCC(5;0.00058)			4	11					0	0	0.014758	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147183129	147183129	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:147183129C>A	ENST00000361727.3	+	11	2289	c.1773C>A	c.(1771-1773)caC>caA	p.H591Q		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	591	EGF-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCACCTGCCACAACTGTGAGT	0.458000										HNSCC(39;0.1)			19	38					3.51602e-12	4.23823e-12	0.008871	1	0
IGKV1D-8	28904	broad.mit.edu	37	2	90260112	90260112	+	RNA	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:90260112C>G	ENST00000471857.1	+	0	396																											CTGATCTATGCTGCATCCACT	0.493000													95	124					0	0	0.014410	0	0
PLOD1	5351	broad.mit.edu	37	1	12016977	12016977	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:12016977A>T	ENST00000196061.4	+	7	674	c.647A>T	c.(646-648)gAg>gTg	p.E216V	PLOD1_ENST00000376369.3_Missense_Mutation_p.E263V|PLOD1_ENST00000485046.1_3'UTR	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	216					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCCCCAGATGAGGTCGTGCTC	0.587000													17	13					0	0	0.007413	0	0
CDCA4	55038	broad.mit.edu	37	14	105477874	105477874	+	Silent	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:105477874T>A	ENST00000336219.3	-	2	548	c.393A>T	c.(391-393)ccA>ccT	p.P131P	CDCA4_ENST00000392590.3_Silent_p.P131P	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	131						nucleus				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		CTGAGGTGACTGGGCAAAGGT	0.607000													20	44					0	0	0.012319	0	0
OR6K2	81448	broad.mit.edu	37	1	158669573	158669573	+	Silent	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:158669573G>T	ENST00000359610.2	-	1	913	c.870C>A	c.(868-870)atC>atA	p.I290I		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TCAGGCTATAGATAATGGGGT	0.403000													19	27					6.94344e-10	8.04357e-10	0.006122	1	0
C3orf33	285315	broad.mit.edu	37	3	155493562	155493562	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:155493562G>A	ENST00000534941.1	-	4	390	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	C3orf33_ENST00000340171.2_Missense_Mutation_p.R84C	NM_173657.1	NP_775928.1	Q96NB5	Q96NB5_HUMAN	chromosome 3 open reading frame 33	41							hydrolase activity, acting on ester bonds|nucleic acid binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)	8			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTTATTCGGCGTAATCGTCCA	0.303000													37	110					0	0	0.015359	0	0
OR6C76	390326	broad.mit.edu	37	12	55820894	55820894	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:55820894T>C	ENST00000328314.3	+	1	857	c.857T>C	c.(856-858)aTt>aCt	p.I286T		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AATCCATTTATTTACACTCTA	0.348000													23	20					0	0	0.003330	0	0
PCLO	27445	broad.mit.edu	37	7	82785474	82785474	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:82785474G>C	ENST00000423517.2	-	2	820	c.483C>G	c.(481-483)aaC>aaG	p.N161K	PCLO_ENST00000333891.8_Missense_Mutation_p.N161K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	161					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CACTTAAAGCGTTAACCTCTG	0.403000													32	73					0	0	0.012213	0	0
DMXL1	1657	broad.mit.edu	37	5	118485227	118485227	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:118485227G>C	ENST00000311085.8	+	18	3785	c.3705G>C	c.(3703-3705)atG>atC	p.M1235I	DMXL1_ENST00000539542.1_Missense_Mutation_p.M1235I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1235										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ACTGTGAAATGCATGTGTATT	0.433000													21	55					0	0	0.008871	0	0
FAM13C	220965	broad.mit.edu	37	10	61012595	61012595	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:61012595G>T	ENST00000373867.3	-	13	1709	c.1244C>A	c.(1243-1245)cCa>cAa	p.P415Q	FAM13C_ENST00000277705.6_Missense_Mutation_p.P519Q|FAM13C_ENST00000442566.3_Missense_Mutation_p.P520Q|FAM13C_ENST00000435852.2_Missense_Mutation_p.P499Q|FAM13C_ENST00000468840.2_Missense_Mutation_p.P416Q|FAM13C_ENST00000373868.2_Missense_Mutation_p.P499Q|FAM13C_ENST00000419214.2_Missense_Mutation_p.P401Q	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	499										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGAGAGAGCTGGTGGTTTTAC	0.448000													30	50					1.06801e-11	1.27362e-11	0.009535	1	0
WWC1	23286	broad.mit.edu	37	5	167891755	167891755	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:167891755C>T	ENST00000265293.4	+	21	3440	c.2938C>T	c.(2938-2940)Cgc>Tgc	p.R980C	WWC1_ENST00000521089.1_Missense_Mutation_p.R986C|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	980	Interaction with PRKCZ.|Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CAAGTCGCTGCGCTCCGAGCG	0.597000													7	24					0	0	0.001984	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151153189	151153189	+	Missense_Mutation	SNP	G	G	T	rs113595784		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:151153189G>T	ENST00000367328.1	+	16	3254	c.2942G>T	c.(2941-2943)cGg>cTg	p.R981L	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.R981L	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	981					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ATGATGGCTCGGCAGTACAGT	0.507000													55	105					4.78724e-31	6.75668e-31	0.014410	1	0
FRYL	285527	broad.mit.edu	37	4	48512142	48512142	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:48512142C>G	ENST00000537810.1	-	59	8932	c.8328G>C	c.(8326-8328)aaG>aaC	p.K2776N	FRYL_ENST00000503238.1_Missense_Mutation_p.K2776N|FRYL_ENST00000264319.7_Missense_Mutation_p.K172N|FRYL_ENST00000507873.2_Missense_Mutation_p.K172N|FRYL_ENST00000358350.4_Missense_Mutation_p.K2776N			O94915	FRYL_HUMAN	FRY-like	2776					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AAACACCAAACTTGAGTGTTT	0.408000													19	62					0	0	0.012319	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216207	20216207	+	Silent	SNP	G	G	C	rs150293428	byFrequency	TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:20216207G>C	ENST00000331723.1	+	1	621	c.621G>C	c.(619-621)ctG>ctC	p.L207L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGGTCTGCTGTCTCTTGTCT	0.488000													26	95					0	0	0.004656	0	0
LOC643733	643733	broad.mit.edu	37	11	104778324	104778324	+	RNA	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:104778324C>A	ENST00000532510.1	-	0	1108																											GCAGCAAATGCCCACAGCAAT	0.478000													10	11					2.17888e-05	2.33041e-05	0.006214	1	0
OR8B3	390271	broad.mit.edu	37	11	124267068	124267068	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:124267068G>A	ENST00000354597.3	-	1	196	c.180C>T	c.(178-180)taC>taT	p.Y60Y		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AGAGGAAATAGTACATTGGTG	0.378000													23	22					0	0	0.003330	0	0
GATA2	2624	broad.mit.edu	37	3	128202703	128202703	+	Splice_Site	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:128202703C>T	ENST00000341105.2	-	4	1348	c.1017_splice	c.e4+1	p.L339_splice	GATA2_ENST00000430265.2_Splice_Site_p.L339_splice|GATA2_ENST00000487848.1_Splice_Site_p.L339_splice	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	339					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		CCGCTCCTACCAGTCTTCGCT	0.602000			Mis		AML(CML blast transformation)								3	49					0	0	0.004672	0	0
NEDD1	121441	broad.mit.edu	37	12	97303599	97303599	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:97303599C>G	ENST00000266742.4	+	3	401	c.62C>G	c.(61-63)tCt>tGt	p.S21C	NEDD1_ENST00000555114.1_Intron|NEDD1_ENST00000429527.2_Missense_Mutation_p.S21C|NEDD1_ENST00000557644.1_Missense_Mutation_p.S28C|NEDD1_ENST00000411739.2_Intron	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	21					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						GATGCTTCATCTATGACATTG	0.348000													14	17					0	0	0.004007	0	0
RGS7	6000	broad.mit.edu	37	1	240966253	240966253	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:240966253C>T	ENST00000366565.1	-	16	1691	c.1310G>A	c.(1309-1311)cGt>cAt	p.R437H	RGS7_ENST00000366563.1_Missense_Mutation_p.R437H|RGS7_ENST00000366564.1_Missense_Mutation_p.R437H|RGS7_ENST00000446183.2_Missense_Mutation_p.R353H|RGS7_ENST00000348120.2_Missense_Mutation_p.R384H|RGS7_ENST00000407727.1_Missense_Mutation_p.R437H|RGS7_ENST00000366562.4_Missense_Mutation_p.R437H|RGS7_ENST00000401882.1_Missense_Mutation_p.R384H|RGS7_ENST00000331110.7_Missense_Mutation_p.R411H	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	437	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCTTATAAAACGTGGGTATGA	0.343000													54	80					0	0	0.014410	0	0
RAD23A	5886	broad.mit.edu	37	19	13060139	13060139	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:13060139A>T	ENST00000586534.1	+	7	791	c.730A>T	c.(730-732)Atg>Ttg	p.M244L	RAD23A_ENST00000592268.1_Missense_Mutation_p.M244L|RAD23A_ENST00000316856.3_Missense_Mutation_p.M243L|RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000541222.1_Missense_Mutation_p.M79L			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	244					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						GTTCCAGAACATGCGGCAGGT	0.637000								Nucleotide excision repair (NER)					34	14					0	0	0.012213	0	0
DOCK3	1795	broad.mit.edu	37	3	51399418	51399418	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:51399418A>T	ENST00000266037.9	+	48	5158	c.5135A>T	c.(5134-5136)cAc>cTc	p.H1712L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1712						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GACCTGTACCACCACATGCAG	0.552000													9	5					0	0	0.004482	0	0
GLYATL2	219970	broad.mit.edu	37	11	58604861	58604861	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:58604861C>T	ENST00000287275.1	-	4	586	c.196G>A	c.(196-198)Gat>Aat	p.D66N	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Missense_Mutation_p.D66N	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	66						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TCCTGGTCATCTTTCATCTCC	0.363000													8	64					0	0	0.004482	0	0
CD81	975	broad.mit.edu	37	11	2411680	2411680	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:2411680C>T	ENST00000263645.5	+	2	361	c.105C>T	c.(103-105)ctC>ctT	p.L35L	CD81_ENST00000381036.3_Silent_p.L73L|CD81_ENST00000526072.1_5'UTR|CD81_ENST00000524805.1_3'UTR|CD81_ENST00000492627.1_5'UTR	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	35					activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCCTGTGGCTCCGCCATGACC	0.622000													24	36					0	0	0.003954	0	0
TTN	7273	broad.mit.edu	37	2	179613197	179613197	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:179613197G>A	ENST00000360870.5	-	46	14152	c.13930C>T	c.(13930-13932)Cat>Tat	p.H4644Y	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	758	Ig-like 26.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTATAATGTATTTCCTGC	0.358000													68	124					0	0	0.014410	0	0
MLIP	90523	broad.mit.edu	37	6	54025221	54025221	+	Silent	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:54025221A>T	ENST00000514921.1	+	6	2426	c.2313A>T	c.(2311-2313)ccA>ccT	p.P771P	MLIP_ENST00000370876.2_Intron|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000274897.5_Silent_p.P247P|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370877.2_Silent_p.P171P|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000502396.1_Silent_p.P782P			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	247						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CATTAGAACCACCAGTGGAGG	0.398000													6	22					0	0	0.001168	0	0
IPMK	253430	broad.mit.edu	37	10	59956302	59956302	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:59956302C>T	ENST00000373935.3	-	6	1108	c.786G>A	c.(784-786)caG>caA	p.Q262Q		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	262						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						TAGTGGTTGGCTGAGATGAAC	0.353000													13	31					0	0	0.013537	0	0
OR8H2	390151	broad.mit.edu	37	11	55872956	55872956	+	Silent	SNP	T	T	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:55872956T>G	ENST00000313503.1	+	1	438	c.438T>G	c.(436-438)acT>acG	p.T146T		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTCTCATCACTGGGCCTTATG	0.453000										HNSCC(53;0.14)			66	100					0	0	0.014410	0	0
NPAP1	23742	broad.mit.edu	37	15	24922763	24922763	+	Silent	SNP	A	A	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:24922763A>G	ENST00000329468.2	+	1	2223	c.1749A>G	c.(1747-1749)ccA>ccG	p.P583P		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CTACTGCCCCATCTCAGGTTG	0.488000													27	70					0	0	0.004656	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19856854	19856854	+	RNA	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:19856854C>T	ENST00000548109.1	+	0	72																											CTCATGTCATCTACAGCACTC	0.343000													15	43					0	0	0.003163	0	0
ZBTB6	10773	broad.mit.edu	37	9	125673995	125673995	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr9:125673995G>A	ENST00000373659.3	-	2	445	c.357C>T	c.(355-357)tgC>tgT	p.C119C		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						AAGCTTCTGTGCACTTTTCCA	0.388000													17	73					0	0	0.004007	0	0
SYNE1	23345	broad.mit.edu	37	6	152786476	152786476	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:152786476G>T	ENST00000367255.5	-	18	2450	c.1849C>A	c.(1849-1851)Cgc>Agc	p.R617S	SYNE1_ENST00000367253.4_Missense_Mutation_p.R617S|SYNE1_ENST00000448038.1_Missense_Mutation_p.R624S|SYNE1_ENST00000466159.2_Missense_Mutation_p.R617S|SYNE1_ENST00000413186.2_Missense_Mutation_p.R617S|SYNE1_ENST00000495090.2_Missense_Mutation_p.R184S|SYNE1_ENST00000367248.3_Missense_Mutation_p.R607S|SYNE1_ENST00000341594.5_Missense_Mutation_p.R624S|SYNE1_ENST00000423061.1_Missense_Mutation_p.R624S|SYNE1_ENST00000265368.4_Missense_Mutation_p.R617S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	617					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGCCATAGCGATCCCAGTTA	0.448000										HNSCC(10;0.0054)			29	55					1.08312e-15	1.34936e-15	0.009535	1	0
LAMP3	27074	broad.mit.edu	37	3	182841990	182841990	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:182841990G>T	ENST00000265598.3	-	6	1385	c.1130C>A	c.(1129-1131)tCg>tAg	p.S377*	LAMP3_ENST00000466939.1_Nonsense_Mutation_p.S353*	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	377					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GTAGTCAGACGAGCACTCATC	0.463000													16	129					2.48551e-13	3.02878e-13	0.004990	1	0
DDX60	55601	broad.mit.edu	37	4	169138107	169138107	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:169138107A>C	ENST00000393743.3	-	38	5407	c.5116T>G	c.(5116-5118)Tgg>Ggg	p.W1706G		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1706							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AACTTTTCCCAAAAAGTTGTA	0.338000													16	34					0	0	0.006122	0	0
FLT4	2324	broad.mit.edu	37	5	180053207	180053207	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:180053207C>T	ENST00000261937.6	-	9	1240	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.E388K|FLT4_ENST00000393347.3_Missense_Mutation_p.E388K	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	388	Ig-like C2-type 4.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCTGTCACCTCCTTGAGCACC	0.627000													14	46					0	0	0.002450	0	0
ABCB11	8647	broad.mit.edu	37	2	169780147	169780147	+	Silent	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:169780147T>C	ENST00000263817.6	-	28	4075	c.3951A>G	c.(3949-3951)ggA>ggG	p.G1317G		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1317					bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TGATGGGGGATCCAGTGGTGA	0.468000													19	58					0	0	0.010504	0	0
COL21A1	81578	broad.mit.edu	37	6	55939064	55939064	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:55939064C>A	ENST00000244728.5	-	20	2328	c.1931G>T	c.(1930-1932)gGc>gTc	p.G644V	COL21A1_ENST00000370808.2_Missense_Mutation_p.G44V|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Missense_Mutation_p.G644V|COL21A1_ENST00000370819.1_Missense_Mutation_p.G641V	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	644	Collagen-like 3.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCCTGGTGAGCCATTGCTTCC	0.328000													37	60					5.71845e-15	7.0649e-15	0.005524	1	0
GDF10	2662	broad.mit.edu	37	10	48428899	48428899	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:48428899C>T	ENST00000224605.2	-	2	1252	c.987G>A	c.(985-987)cgG>cgA	p.R329R		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	329					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GTTTCAGCGCCCGGAAGGGGC	0.682000													8	18					0	0	0.004482	0	0
NFATC2IP	84901	broad.mit.edu	37	16	28967303	28967303	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:28967303C>G	ENST00000320805.4	+	4	658	c.583C>G	c.(583-585)Ctg>Gtg	p.L195V	NFATC2IP_ENST00000562977.1_Intron|NFATC2IP_ENST00000564978.1_Intron	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	195						cytoplasm|nucleus		p.L195M(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						CTACAGGGATCTGGACAACTC	0.527000													20	55					0	0	0.010504	0	0
SNRNP200	23020	broad.mit.edu	37	2	96963242	96963242	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:96963242C>A	ENST00000323853.5	-	11	1313	c.1236G>T	c.(1234-1236)gaG>gaT	p.E412D	SNRNP200_ENST00000349783.5_Missense_Mutation_p.E412D	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	412						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						AAACCAGGTCCTCCAAGTCCA	0.512000													11	18					5.16669e-11	6.11231e-11	0.010729	1	0
SETX	23064	broad.mit.edu	37	9	135205410	135205410	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr9:135205410G>A	ENST00000372169.2	-	10	1757	c.1575C>T	c.(1573-1575)tcC>tcT	p.S525S	SETX_ENST00000224140.5_Silent_p.S525S|SETX_ENST00000393220.1_Silent_p.S525S			Q7Z333	SETX_HUMAN	senataxin	525					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TAGATGGCATGGAATGCAATG	0.438000													102	35					0	0	0.014410	0	0
SEMA5B	54437	broad.mit.edu	37	3	122629074	122629074	+	Silent	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:122629074C>A	ENST00000357599.3	-	23	3758	c.3372G>T	c.(3370-3372)acG>acT	p.T1124T	SEMA5B_ENST00000195173.4_3'UTR|SEMA5B_ENST00000451055.2_Silent_p.T1178T	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	1124					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)		AGTAAGTAGTCGTGTACACAT	0.547000													12	54					1.36491e-13	1.677e-13	0.001855	1	0
COX16	51241	broad.mit.edu	37	14	70795900	70795900	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:70795900C>T	ENST00000389912.6	-	3	338	c.195G>A	c.(193-195)tcG>tcA	p.S65S	RP11-718G2.3_ENST00000555276.1_RNA|COX16_ENST00000557612.1_5'UTR	NM_016468.6	NP_057552.1			COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)											large_intestine(1)|lung(2)	3						CCTCATATTCCGACTCTAAAG	0.294000													20	26					0	0	0.008871	0	0
THSD1	55901	broad.mit.edu	37	13	52951683	52951683	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr13:52951683C>G	ENST00000349258.4	-	4	2807	c.2263G>C	c.(2263-2265)Gag>Cag	p.E755Q	THSD1_ENST00000544466.1_Missense_Mutation_p.E429Q|THSD1_ENST00000258613.4_Missense_Mutation_p.E808Q	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	808						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		AAGGCAAACTCAGGGTGAGTG	0.488000													32	31					0	0	0.013726	0	0
METTL12	751071	broad.mit.edu	37	11	62434253	62434253	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:62434253G>A	ENST00000532971.1	+	3	710	c.453G>A	c.(451-453)gtG>gtA	p.V151V	METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000532208.1_Intron|C11orf48_ENST00000431002.2_Intron|C11orf48_ENST00000354588.3_Intron	NM_001043229.1	NP_001036694.1	A8MUP2	MTL12_HUMAN	methyltransferase like 12	151						mitochondrion	methyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						TGGGGGCTGTGGCTTCTTCAG	0.592000													14	51					0	0	0.004990	0	0
DCHS2	54798	broad.mit.edu	37	4	155253699	155253699	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:155253699C>A	ENST00000357232.3	-	9	2163	c.2164G>T	c.(2164-2166)Gga>Tga	p.G722*	DCHS2_ENST00000339452.1_Nonsense_Mutation_p.G1221*	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	722	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCATTCTTTCCAGAGTCCATG	0.398000													11	57					1.08611e-07	1.20799e-07	0.010729	1	0
CHRNA6	8973	broad.mit.edu	37	8	42620299	42620299	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:42620299G>C	ENST00000276410.2	-	2	483	c.128C>G	c.(127-129)tCt>tGt	p.S43C	CHRNA6_ENST00000530869.1_5'UTR|CHRNA6_ENST00000534622.1_Missense_Mutation_p.S43C	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	43						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GTTGTAATGAGAAAACAGTTT	0.557000													22	106					0	0	0.010504	0	0
SSPO	23145	broad.mit.edu	37	7	149474083	149474083	+	RNA	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:149474083G>T	ENST00000378016.2	+	0	293							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCCCAGGCTGGGGGGGCGCC	0.622000													12	54					1.05317e-09	1.2106e-09	0.002450	1	0
USH2A	7399	broad.mit.edu	37	1	216040365	216040365	+	Silent	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:216040365C>A	ENST00000366943.2	-	44	9215	c.8829G>T	c.(8827-8829)gtG>gtT	p.V2943V	USH2A_ENST00000307340.3_Silent_p.V2943V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2943	Fibronectin type-III 16.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAGCCCACCTCACGTCGATGG	0.448000										HNSCC(13;0.011)			35	57					1.04594e-18	1.37203e-18	0.006230	1	0
MYT1	4661	broad.mit.edu	37	20	62837126	62837126	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:62837126G>T	ENST00000536311.1	+	6	734	c.370G>T	c.(370-372)Gag>Tag	p.E124*	MYT1_ENST00000328439.1_Nonsense_Mutation_p.E124*|MYT1_ENST00000360149.4_Nonsense_Mutation_p.E124*			Q01538	MYT1_HUMAN	myelin transcription factor 1	124					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGGACAGGACGAGATTCATCG	0.587000													7	24					8.12818e-05	8.57014e-05	0.001984	1	0
KLHL1	57626	broad.mit.edu	37	13	70314562	70314562	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr13:70314562G>T	ENST00000377844.4	-	8	2525	c.1766C>A	c.(1765-1767)gCt>gAt	p.A589D	KLHL1_ENST00000545028.1_Missense_Mutation_p.A396D	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	589					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TGTGCTCCGAGCAATTGACAT	0.378000													22	36					5.35356e-11	6.28339e-11	0.016522	1	0
RSL1D1	26156	broad.mit.edu	37	16	11935671	11935671	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:11935671C>A	ENST00000571133.1	-	7	808	c.736G>T	c.(736-738)Gag>Tag	p.E246*	RSL1D1_ENST00000542106.1_Nonsense_Mutation_p.E26*	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	246					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TTCACGCTCTCCCACTTCTGA	0.393000													17	24					9.16793e-09	1.03255e-08	0.004990	1	0
PZP	5858	broad.mit.edu	37	12	9318716	9318716	+	Silent	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:9318716T>C	ENST00000261336.2	-	18	2218	c.2190A>G	c.(2188-2190)tcA>tcG	p.S730S	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Silent_p.S599S	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GGACTGGCCCTGAACTTTGTT	0.413000													41	96					0	0	0.006230	0	0
POU4F3	5459	broad.mit.edu	37	5	145719943	145719943	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:145719943T>C	ENST00000230732.4	+	2	1042	c.953T>C	c.(952-954)gTg>gCg	p.V318A	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	318					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGAACGTGGTGAGAGTCTGG	0.547000													9	27					0	0	0.004482	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869128	36869128	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:36869128G>T	ENST00000279024.4	-	3	1676	c.1405C>A	c.(1405-1407)Cct>Act	p.P469T		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	469										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TTGAGCCCAGGAGTGGGGGGC	0.552000													17	43					4.75885e-15	5.89569e-15	0.004990	1	0
CEP85L	387119	broad.mit.edu	37	6	118887220	118887220	+	Silent	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:118887220G>C	ENST00000368491.3	-	3	1113	c.492C>G	c.(490-492)gcC>gcG	p.A164A	CEP85L_ENST00000368488.5_Silent_p.A167A|CEP85L_ENST00000360290.3_Silent_p.A62A|CEP85L_ENST00000419517.2_Silent_p.A164A|CEP85L_ENST00000472713.1_5'UTR|CEP85L_ENST00000392500.3_Silent_p.A167A	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	164						centrosome											AGTTATCCGGGGCAGTGAGTT	0.498000													29	50					0	0	0.007291	0	0
T	6862	broad.mit.edu	37	6	166578115	166578115	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:166578115G>A	ENST00000296946.2	-	6	1176	c.708C>T	c.(706-708)agC>agT	p.S236S	T_ENST00000366871.3_Silent_p.S236S	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	236					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CAGGTTGCTGGCTGTCTCCGG	0.418000									Chordoma, Familial Clustering of				29	58					0	0	0.013726	0	0
MUC16	94025	broad.mit.edu	37	19	9045667	9045667	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:9045667G>A	ENST00000397910.4	-	5	36167	c.35964C>T	c.(35962-35964)gcC>gcT	p.A11988A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11990	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGTTGTCTTGGCCACAGTGG	0.493000													11	47					0	0	0.010729	0	0
ZNF177	7730	broad.mit.edu	37	19	9492182	9492182	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:9492182G>C	ENST00000541595.2	+	12	1324	c.695G>C	c.(694-696)gGa>gCa	p.G232A	ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000602738.1_Missense_Mutation_p.G232A|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000434737.2_Missense_Mutation_p.G392A|ZNF177_ENST00000589262.1_Missense_Mutation_p.G392A|ZNF177_ENST00000343499.4_Missense_Mutation_p.G232A	NM_001172650.2	NP_001166121.1	Q13360	ZN177_HUMAN	zinc finger protein 177	232					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						TCTCACACTGGAGAGAAGCCT	0.468000													34	92					0	0	0.012213	0	0
FAM179B	23116	broad.mit.edu	37	14	45537659	45537659	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:45537659T>A	ENST00000361462.2	+	18	4965	c.4782T>A	c.(4780-4782)gaT>gaA	p.D1594E	FAM179B_ENST00000361577.3_Missense_Mutation_p.D1541E|FAM179B_ENST00000382233.2_3'UTR			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1541							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GACTTCATGATTCTAATAGTA	0.279000													9	35					0	0	0.006214	0	0
EPS15L1	58513	broad.mit.edu	37	19	16528864	16528864	+	Silent	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:16528864C>A	ENST00000602009.1	-	5	1435	c.540G>T	c.(538-540)gcG>gcT	p.A180A	EPS15L1_ENST00000594975.1_Silent_p.A334A|EPS15L1_ENST00000535753.2_Silent_p.A334A|EPS15L1_ENST00000248070.6_Silent_p.A334A|EPS15L1_ENST00000455140.2_Silent_p.A334A|EPS15L1_ENST00000597937.1_Silent_p.A334A			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	334	EF-hand.|EH 2.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						ACATAGCTAACGCGAATTGGT	0.562000											OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	20					6.19805e-25	8.5583e-25	0.005524	1	0
SLCO1C1	53919	broad.mit.edu	37	12	20864365	20864365	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:20864365C>A	ENST00000381552.1	+	5	818	c.450C>A	c.(448-450)agC>agA	p.S150R	SLCO1C1_ENST00000545102.1_Missense_Mutation_p.S32R|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S150R|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.S150R|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.S150R			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	150					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CCACTCTCAGCATCTCTCCGT	0.348000													22	114					5.35356e-11	6.28339e-11	0.016522	1	0
C9orf152	401546	broad.mit.edu	37	9	112963437	112963437	+	Missense_Mutation	SNP	C	C	T	rs138966973	byFrequency	TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr9:112963437C>T	ENST00000400613.4	-	2	1120	c.511G>A	c.(511-513)Gga>Aga	p.G171R	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	171										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TCTGGGATTCCGGTTCCTTGC	0.493000													26	114					0	0	0.004656	0	0
ZNF696	79943	broad.mit.edu	37	8	144378762	144378762	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:144378762C>A	ENST00000330143.3	+	3	1326	c.917C>A	c.(916-918)tCc>tAc	p.S306Y		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AGCCGCAGCTCCTTCCTCCGC	0.731000													3	10					0.004672	0.00482341	0.004672	1	0
AHI1	54806	broad.mit.edu	37	6	135679271	135679271	+	Splice_Site	SNP	G	G	T	rs73559947	by1000genomes	TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:135679271G>T	ENST00000367800.4	-	22	3380	c.3165_splice	c.e22+1	p.T1055_splice	AHI1_ENST00000417892.2_Splice_Site_p.T409_splice|AHI1_ENST00000457866.2_Splice_Site_p.T1055_splice	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	1055	SH3.					adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTGTCTTACCGTTGGTGCTGT	0.358000													48	203					8.00217e-19	1.05279e-18	0.014410	1	0
UGT2B11	10720	broad.mit.edu	37	4	70080094	70080094	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:70080094A>C	ENST00000446444.1	-	1	355	c.347T>G	c.(346-348)cTg>cGg	p.L116R	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	116					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TAATTCCCACAGGATTTCTTG	0.294000													17	52					0	0	0.007413	0	0
WDR36	134430	broad.mit.edu	37	5	110448824	110448824	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:110448824A>G	ENST00000506538.2	+	16	2509	c.1936A>G	c.(1936-1938)Att>Gtt	p.I646V	WDR36_ENST00000513710.2_Missense_Mutation_p.I646V	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	646					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GGATTGCTCTATTAGGACTTG	0.289000													19	45					0	0	0.014323	0	0
KRT72	140807	broad.mit.edu	37	12	52979944	52979944	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:52979944C>A	ENST00000293745.2	-	9	1443	c.1358G>T	c.(1357-1359)aGc>aTc	p.S453I	KRT72_ENST00000354310.4_Missense_Mutation_p.S411I|KRT72_ENST00000398066.3_Missense_Mutation_p.S265I|KRT72_ENST00000537672.2_Missense_Mutation_p.S453I	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	453	Tail.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		AGCATTGGTGCTGCTGATGAC	0.587000													17	18					9.16793e-09	1.03255e-08	0.004990	1	0
ENHO	375704	broad.mit.edu	37	9	34521615	34521615	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr9:34521615A>G	ENST00000399775.2	-	2	504	c.79T>C	c.(79-81)Tgg>Cgg	p.W27R	RP11-296L22.8_ENST00000439960.1_RNA	NM_198573.2	NP_940975.2	Q6UWT2	ENHO_HUMAN	energy homeostasis associated	27						extracellular region				endometrium(1)|lung(1)	2						AGGATGACCCAGAGCAGCAGC	0.632000													9	49					0	0	0.004482	0	0
BCAR1	9564	broad.mit.edu	37	16	75276935	75276935	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:75276935G>A	ENST00000418647.3	-	3	487	c.204C>T	c.(202-204)ctC>ctT	p.L68L	BCAR1_ENST00000393422.2_Silent_p.L40L|BCAR1_ENST00000546196.1_5'UTR|BCAR1_ENST00000162330.5_Silent_p.L22L|BCAR1_ENST00000420641.3_Silent_p.L40L|BCAR1_ENST00000542031.2_Silent_p.L20L|BCAR1_ENST00000538440.2_Silent_p.L22L|BCAR1_ENST00000535626.2_Silent_p.L22L|BCAR1_ENST00000393420.6_Silent_p.L22L	NM_001170714.1	NP_001164185.1	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	22					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGCGGAAGGAGAGCTCATCCG	0.627000													14	12					0	0	0.002450	0	0
CADM2	253559	broad.mit.edu	37	3	85984983	85984983	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:85984983C>A	ENST00000383699.3	+	7	1394	c.767C>A	c.(766-768)aCt>aAt	p.T256N	CADM2_ENST00000405615.2_Missense_Mutation_p.T249N|CADM2_ENST00000407528.2_Missense_Mutation_p.T247N	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	247	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TTAATTTTGACTTGTGAATCC	0.308000													57	43					6.12789e-21	8.18275e-21	0.014410	1	0
KIAA0556	23247	broad.mit.edu	37	16	27752188	27752188	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:27752188C>G	ENST00000261588.4	+	15	2589	c.2570C>G	c.(2569-2571)tCa>tGa	p.S857*		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	857										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGGAGGGGCTCAAGGAAGGAT	0.597000													9	14					0	0	0.004482	0	0
DACT1	51339	broad.mit.edu	37	14	59113678	59113678	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:59113678C>T	ENST00000395153.3	+	4	2373	c.2226C>T	c.(2224-2226)agC>agT	p.S742S	DACT1_ENST00000541264.2_Silent_p.S498S|DACT1_ENST00000395151.3_Silent_p.S498S|DACT1_ENST00000556859.1_Silent_p.S498S|DACT1_ENST00000335867.4_Silent_p.S779S	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	779					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CTGAAGAAAGCGGGGGCTTAA	0.542000													25	87					0	0	0.016522	0	0
SNX27	81609	broad.mit.edu	37	1	151641106	151641106	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:151641106C>T	ENST00000368843.3	+	7	1264	c.1144C>T	c.(1144-1146)Cat>Tat	p.H382Y	SNX27_ENST00000482791.1_3'UTR|SNX27_ENST00000458013.2_Missense_Mutation_p.H382Y|SNX27_ENST00000368838.1_Missense_Mutation_p.H289Y	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	382					cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTACTTCTTTCATCAGGTAGG	0.388000													19	45					0	0	0.007413	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43944888	43944888	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:43944888G>T	ENST00000389420.3	-	2	276	c.277C>A	c.(277-279)Ctg>Atg	p.L93M	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.L93M	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	93						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCGGCGGTCAGGTTCAGCTGG	0.667000													22	20					3.7963e-18	4.95074e-18	0.003330	1	0
ITGB8	3696	broad.mit.edu	37	7	20371492	20371492	+	Silent	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:20371492A>T	ENST00000222573.3	+	1	747	c.63A>T	c.(61-63)cgA>cgT	p.R21R	ITGB8_ENST00000537992.1_Intron	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	21					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						ACGACCGGCGAGGTCCCGCCT	0.557000													23	44					0	0	0.005443	0	0
C1orf94	84970	broad.mit.edu	37	1	34667770	34667770	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:34667770C>T	ENST00000488417.1	+	4	1476	c.1356C>T	c.(1354-1356)acC>acT	p.T452T	C1orf94_ENST00000373374.3_Silent_p.T262T	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	262							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CAGCCATGACCTCAGCAACCC	0.507000													38	11					0	0	0.004289	0	0
TFCP2L1	29842	broad.mit.edu	37	2	121995390	121995390	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:121995390G>A	ENST00000263707.5	-	9	994	c.897C>T	c.(895-897)ccC>ccT	p.P299P		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	299					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CACTGCCCACGGGCAGGGCCT	0.652000													13	22					0	0	0.002450	0	0
STK32C	282974	broad.mit.edu	37	10	134041490	134041490	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:134041490A>G	ENST00000368622.1	-	3	491	c.110T>C	c.(109-111)gTg>gCg	p.V37A	STK32C_ENST00000368625.4_Missense_Mutation_p.V167A			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	154							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CCAGAGGTTCACCAGGAAGAC	0.592000													7	9					0	0	0.004482	0	0
MFN1	55669	broad.mit.edu	37	3	179103449	179103449	+	Silent	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:179103449A>T	ENST00000471841.1	+	15	1881	c.1755A>T	c.(1753-1755)gtA>gtT	p.V585V	MFN1_ENST00000280653.7_Silent_p.V474V|MFN1_ENST00000263969.5_Silent_p.V585V	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	585					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TTACATTAGTAACAGGATTGG	0.403000													33	120					0	0	0.015359	0	0
COL11A1	1301	broad.mit.edu	37	1	103449722	103449722	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:103449722G>T	ENST00000358392.2	-	31	2881	c.2564C>A	c.(2563-2565)cCa>cAa	p.P855Q	COL11A1_ENST00000370096.3_Missense_Mutation_p.P843Q|COL11A1_ENST00000353414.4_Missense_Mutation_p.P804Q|COL11A1_ENST00000512756.1_Missense_Mutation_p.P727Q	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	843	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGGATATCCTGGTAATCCTGG	0.264000													7	9					1.12685e-05	1.21103e-05	0.004482	1	0
SPHKAP	80309	broad.mit.edu	37	2	228884000	228884000	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:228884000C>G	ENST00000392056.3	-	7	1616	c.1570G>C	c.(1570-1572)Gtg>Ctg	p.V524L	SPHKAP_ENST00000344657.5_Missense_Mutation_p.V524L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	524						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCGAGACCACTTGCTCCATT	0.512000													30	16					0	0	0.009535	0	0
MIOS	54468	broad.mit.edu	37	7	7636045	7636045	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:7636045G>A	ENST00000340080.4	+	11	2775	c.2354G>A	c.(2353-2355)tGt>tAt	p.C785Y	MIOS_ENST00000405785.1_Missense_Mutation_p.C785Y	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	785										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTCCTCGATGTGCGCTTTGT	0.403000													60	96					0	0	0.014410	0	0
FAM98C	147965	broad.mit.edu	37	19	38893838	38893838	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:38893838C>T	ENST00000252530.5	+	1	64	c.45C>T	c.(43-45)gcC>gcT	p.A15A	FAM98C_ENST00000588262.1_Silent_p.A15A|FAM98C_ENST00000343358.7_Silent_p.A15A	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	15										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCGCGGTGGCCCAGGACCTGC	0.697000													18	11					0	0	0.014323	0	0
USH1C	10083	broad.mit.edu	37	11	17532004	17532004	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:17532004A>T	ENST00000005226.7	-	17	1477	c.1478T>A	c.(1477-1479)cTc>cAc	p.L493H	USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0	PDZ 3.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CGTTTGACAGAGCCTCTCCAC	0.502000													3	13					0	0	0.004672	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161039369	161039369	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:161039369G>A	ENST00000368013.3	-	1	366	c.46C>T	c.(46-48)Cgg>Tgg	p.R16W	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R16W|ARHGAP30_ENST00000368015.1_Intron	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	16					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCAAAAACCCGCTCCTTTGCG	0.642000													32	61					0	0	0.006999	0	0
SAV1	60485	broad.mit.edu	37	14	51132094	51132094	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:51132094G>A	ENST00000324679.4	-	2	701	c.338C>T	c.(337-339)tCt>tTt	p.S113F		NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador homolog 1 (Drosophila)	113					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					AAATGACTGAGAAGAACCATA	0.388000													13	13					0	0	0.010504	0	0
GYS1	2997	broad.mit.edu	37	19	49484827	49484827	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:49484827C>A	ENST00000323798.3	-	8	1325	c.1129G>T	c.(1129-1131)Gtg>Ttg	p.V377L	GYS1_ENST00000541188.1_Missense_Mutation_p.V297L|GYS1_ENST00000544287.1_Missense_Mutation_p.V10L|GYS1_ENST00000263276.6_Missense_Mutation_p.V313L|GYS1_ENST00000540532.1_3'UTR	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	377					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		AGGGTTTCCACGTTGAAATTG	0.597000													26	18					2.49534e-26	3.47789e-26	0.010818	1	0
BMP1	649	broad.mit.edu	37	8	22056620	22056620	+	Silent	SNP	C	C	T	rs148038163		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:22056620C>T	ENST00000397816.3	+	16	2412	c.2193C>T	c.(2191-2193)ccC>ccT	p.P731P	BMP1_ENST00000306349.8_Intron|BMP1_ENST00000354870.5_Intron|BMP1_ENST00000306385.5_Intron			P13497	BMP1_HUMAN	bone morphogenetic protein 1	0	EGF-like 2; calcium-binding (Potential).				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ACACTGTGCCCGCCCCACCCT	0.622000													12	52					0	0	0.010729	0	0
PIK3R4	30849	broad.mit.edu	37	3	130405134	130405134	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:130405134C>T	ENST00000356763.3	-	15	3953	c.3396G>A	c.(3394-3396)gcG>gcA	p.A1132A	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1132					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TTAAAGTCCACGCATTGCTTG	0.473000													26	45					0	0	0.004656	0	0
TRIML1	339976	broad.mit.edu	37	4	189060960	189060960	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:189060960C>A	ENST00000332517.3	+	1	388	c.248C>A	c.(247-249)tCc>tAc	p.S83Y		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	83					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CAGCTCCGGTCCCAGGTGCTG	0.637000													7	26					0.000157383	0.00016516	0.003080	1	0
ST8SIA6	338596	broad.mit.edu	37	10	17432614	17432614	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:17432614T>C	ENST00000377602.4	-	3	280	c.206A>G	c.(205-207)tAt>tGt	p.Y69C	ST8SIA6-AS1_ENST00000457649.2_RNA|ST8SIA6-AS1_ENST00000377597.2_RNA|ST8SIA6-AS1_ENST00000451225.2_RNA	NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	69					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						CTCATTCAGATATGTGCTGTT	0.318000													30	71					0	0	0.010818	0	0
DOK5	55816	broad.mit.edu	37	20	53227044	53227044	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:53227044G>C	ENST00000262593.5	+	6	1067	c.717G>C	c.(715-717)caG>caC	p.Q239H	DOK5_ENST00000395939.1_Missense_Mutation_p.Q131H	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	239							insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			GCTTGCTACAGAGTGTGAAAA	0.498000													11	31					0	0	0.010729	0	0
TBC1D4	9882	broad.mit.edu	37	13	75898460	75898460	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr13:75898460G>A	ENST00000377636.3	-	11	2457	c.2111C>T	c.(2110-2112)tCt>tTt	p.S704F	TBC1D4_ENST00000431480.2_Missense_Mutation_p.S704F|TBC1D4_ENST00000377625.2_Intron|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	704	Ser-rich.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GGAAGGGGCAGAGAAGGAAGT	0.443000													27	34					0	0	0.003954	0	0
VRK2	7444	broad.mit.edu	37	2	58373570	58373570	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:58373570G>T	ENST00000435505.2	+	15	1888	c.1143G>T	c.(1141-1143)gaG>gaT	p.E381D	VRK2_ENST00000440705.2_Missense_Mutation_p.E358D|VRK2_ENST00000417641.2_Missense_Mutation_p.E381D|VRK2_ENST00000340157.4_Missense_Mutation_p.E381D|VRK2_ENST00000412104.2_Missense_Mutation_p.E381D			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	381						integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						TGCAGAAAGAGGAGAAACTGA	0.403000													11	40					2.80697e-09	3.19365e-09	0.010729	1	0
CNTNAP2	26047	broad.mit.edu	37	7	147869371	147869371	+	Silent	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:147869371C>A	ENST00000361727.3	+	18	3327	c.2811C>A	c.(2809-2811)atC>atA	p.I937I	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	937	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGGGCTGCATCCGCTCCTTGA	0.537000										HNSCC(39;0.1)			23	49					1.64293e-13	2.00753e-13	0.003330	1	0
PTPN7	5778	broad.mit.edu	37	1	202121728	202121728	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:202121728C>T	ENST00000309017.3	-	8	1905	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K	PTPN7_ENST00000544762.1_Missense_Mutation_p.E49K|PTPN7_ENST00000543735.1_Missense_Mutation_p.E102K|PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000367279.4_Missense_Mutation_p.E312K|PTPN7_ENST00000308986.5_Missense_Mutation_p.E273K	NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	273						cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						TCCTCCACCTCTGCCACTAGG	0.642000													16	33					0	0	0.004007	0	0
RDH12	145226	broad.mit.edu	37	14	68192857	68192857	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:68192857G>A	ENST00000551171.1	+	6	757	c.433G>A	c.(433-435)Gga>Aga	p.G145R	RDH12_ENST00000539142.1_Missense_Mutation_p.G145R|RDH12_ENST00000267502.3_Missense_Mutation_p.G145R	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	145			G -> E (in retinal dystrophy; exhibits a profound loss of catalytic activity).		photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	AACCCACCTGGGAGTCAACCA	0.433000													80	90					0	0	0.014410	0	0
PEX11A	8800	broad.mit.edu	37	15	90229763	90229763	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:90229763G>A	ENST00000300056.3	-	2	220	c.71C>T	c.(70-72)aCa>aTa	p.T24I	PEX11A_ENST00000559170.1_Intron|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561257.1_Missense_Mutation_p.T24I|PEX11A_ENST00000561224.1_Missense_Mutation_p.T24I	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	24					cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane				endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CAACATGCATGTGTACTGAGT	0.378000													55	48					0	0	0.014410	0	0
PIWIL1	9271	broad.mit.edu	37	12	130847589	130847589	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:130847589G>A	ENST00000245255.3	+	18	2367	c.2095G>A	c.(2095-2097)Gtg>Atg	p.V699M		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	699	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CCGGATCATCGTGTACCGCGA	0.488000													8	44					0	0	0.003080	0	0
DENND5A	23258	broad.mit.edu	37	11	9182329	9182329	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:9182329C>T	ENST00000328194.3	-	12	2687	c.2367G>A	c.(2365-2367)gaG>gaA	p.E789E	DENND5A_ENST00000530044.1_Silent_p.E789E|DENND5A_ENST00000527700.1_Silent_p.E132E	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	789	RUN 1.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCAGGGTGTTCTCTTCCACCC	0.512000													29	55					0	0	0.007291	0	0
ZBTB11	27107	broad.mit.edu	37	3	101390839	101390839	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:101390839T>A	ENST00000312938.4	-	2	1109	c.529A>T	c.(529-531)Aaa>Taa	p.K177*	ZBTB11_ENST00000461821.1_Nonsense_Mutation_p.K177*	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGTTCATGTTTGGATACTGGC	0.388000													14	59					0	0	0.004990	0	0
CLMP	79827	broad.mit.edu	37	11	122944443	122944443	+	Silent	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:122944443G>C	ENST00000448775.2	-	7	1201	c.861C>G	c.(859-861)ccC>ccG	p.P287P	CLMP_ENST00000530371.1_5'UTR	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	287						integral to membrane|tight junction				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						AAGAGGAGCTGGGTTTCACAA	0.507000													17	76					0	0	0.007413	0	0
GPR37	2861	broad.mit.edu	37	7	124387352	124387352	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:124387352T>A	ENST00000303921.2	-	2	1719	c.1069A>T	c.(1069-1071)Ata>Tta	p.I357L		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	357						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AAGCGGTCTATGCACAGAGCA	0.493000													13	66					0	0	0.001855	0	0
DIAPH3	81624	broad.mit.edu	37	13	60737866	60737866	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr13:60737866G>A	ENST00000400324.4	-	1	255	c.35C>T	c.(34-36)gCc>gTc	p.A12V	DIAPH3_ENST00000400320.1_Missense_Mutation_p.A12V|DIAPH3_ENST00000377908.2_Missense_Mutation_p.A12V|DIAPH3_ENST00000400330.1_Missense_Mutation_p.A12V|DIAPH3_ENST00000267215.4_Missense_Mutation_p.A12V|DIAPH3_ENST00000400319.1_Missense_Mutation_p.A12V	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	12					actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TGAGCCTTGGGCCGGGTGGTG	0.682000													11	8					0	0	0.010729	0	0
OR8H2	390151	broad.mit.edu	37	11	55873223	55873223	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:55873223G>C	ENST00000313503.1	+	1	705	c.705G>C	c.(703-705)caG>caC	p.Q235H		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q235Q(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CAGGAAAGCAGAAAGCTTTCT	0.383000										HNSCC(53;0.14)			39	43					0	0	0.006230	0	0
KCNK10	54207	broad.mit.edu	37	14	88707125	88707125	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:88707125C>A	ENST00000340700.5	-	3	878	c.427G>T	c.(427-429)Gga>Tga	p.G143*	KCNK10_ENST00000319231.5_Nonsense_Mutation_p.G148*|KCNK10_ENST00000312350.5_Nonsense_Mutation_p.G148*	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	143					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GAAGAGTTTCCTATTGGACTG	0.418000													28	87					2.79863e-10	3.27609e-10	0.004656	1	0
PIK3CD	5293	broad.mit.edu	37	1	9776604	9776604	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:9776604C>T	ENST00000536656.1	+	6	915	c.707C>T	c.(706-708)cCg>cTg	p.P236L	PIK3CD_ENST00000377346.4_Missense_Mutation_p.P236L|PIK3CD_ENST00000361110.2_Missense_Mutation_p.P236L			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	236					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		GTGGAGCAGCCGGAAGACTAC	0.642000													3	4					0	0	0.004672	0	0
DLK1	8788	broad.mit.edu	37	14	101198399	101198399	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:101198399G>A	ENST00000341267.4	+	4	525	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	DLK1_ENST00000331224.6_Missense_Mutation_p.A95T	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	95	EGF-like 3.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CTGCTCCTCGGCCCCCTGTGC	0.597000													22	27					0	0	0.003954	0	0
MOGS	7841	broad.mit.edu	37	2	74691753	74691753	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:74691753A>C	ENST00000233616.4	-	2	611	c.449T>G	c.(448-450)tTc>tGc	p.F150C	MOGS_ENST00000452063.2_Missense_Mutation_p.F44C|MOGS_ENST00000462443.1_Intron|MOGS_ENST00000535045.1_Intron|MOGS_ENST00000409065.1_Missense_Mutation_p.F150C	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	150					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GCCGTCGTGGAACTCCCAGCC	0.657000													26	55					0	0	0.006320	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140764014	140764014	+	Silent	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:140764014G>C	ENST00000518325.1	+	1	1548	c.1548G>C	c.(1546-1548)gcG>gcC	p.A516A	PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGTACGCGCTGCAATCCT	0.517000													9	21					0	0	0.006214	0	0
CPAMD8	27151	broad.mit.edu	37	19	17039991	17039991	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:17039991G>T	ENST00000443236.1	-	24	3077	c.3046C>A	c.(3046-3048)Cgc>Agc	p.R1016S		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	969						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CGGGTGAGGCGCAGTGGCCGC	0.582000													19	13					2.4624e-09	2.80877e-09	0.008871	1	0
PCDHGA1	56114	broad.mit.edu	37	5	140712201	140712201	+	Silent	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:140712201C>A	ENST00000517417.1	+	1	1950	c.1950C>A	c.(1948-1950)ggC>ggA	p.G650G	PCDHGA1_ENST00000378105.3_Silent_p.G650G	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGACCACGGCCAGCCCCCGC	0.706000													16	27					1.99824e-07	2.21695e-07	0.004990	1	0
HYDIN	54768	broad.mit.edu	37	16	70843905	70843905	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:70843905C>T	ENST00000393567.2	-	85	14814	c.14664G>A	c.(14662-14664)acG>acA	p.T4888T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4888										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CAAATGAGAACGTGCCCTGGA	0.488000													46	175					0	0	0.013114	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768373	140768373	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:140768373G>C	ENST00000519479.1	+	1	922	c.922G>C	c.(922-924)Gaa>Caa	p.E308Q	PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTAGATTTTGAAGAAGTCAA	0.398000													7	20					0	0	0.003080	0	0
FAM160B2	64760	broad.mit.edu	37	8	21960044	21960044	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:21960044C>T	ENST00000289921.7	+	16	2044	c.1998C>T	c.(1996-1998)atC>atT	p.I666I		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	666										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						TGTAGGTGATCGGGGACTTGA	0.617000													2	0					0	0	0.004672	0	0
ZC3H18	124245	broad.mit.edu	37	16	88696916	88696916	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:88696916G>C	ENST00000301011.5	+	17	2790	c.2590G>C	c.(2590-2592)Ggg>Cgg	p.G864R	ZC3H18_ENST00000452588.2_Missense_Mutation_p.G888R	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	864						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GAAGTCAGGTGGGAGACTGGG	0.637000													8	24					0	0	0.004482	0	0
AURKC	6795	broad.mit.edu	37	19	57744010	57744010	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:57744010C>G	ENST00000302804.7	+	4	583	c.397C>G	c.(397-399)Cag>Gag	p.Q133E	AURKC_ENST00000448930.1_Missense_Mutation_p.Q99E|AURKC_ENST00000598785.1_Missense_Mutation_p.Q99E|AURKC_ENST00000599062.1_Missense_Mutation_p.Q130E|AURKC_ENST00000415300.2_Missense_Mutation_p.Q114E	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	133	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		CAAGGAGCTGCAGAAAAGCGA	0.542000													15	67					0	0	0.004007	0	0
MICAL3	57553	broad.mit.edu	37	22	18273802	18273802	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr22:18273802C>A	ENST00000441493.2	-	31	6138	c.5786G>T	c.(5785-5787)cGa>cTa	p.R1929L	MICAL3_ENST00000580469.1_5'UTR|XXbac-B461K10.4_ENST00000476405.1_RNA	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1929						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTGCTGCAGTCGACTCTGCCG	0.662000													9	14					1.12685e-05	1.21103e-05	0.004482	1	0
ZNF608	57507	broad.mit.edu	37	5	123982854	123982854	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:123982854C>A	ENST00000306315.5	-	4	3658	c.3223G>T	c.(3223-3225)Gct>Tct	p.A1075S	ZNF608_ENST00000504926.1_Missense_Mutation_p.A648S	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1075						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		AGTGACTGAGCCAGGGCAGGA	0.483000													10	31					5.16669e-11	6.11231e-11	0.010729	1	0
KCNH7	90134	broad.mit.edu	37	2	163393462	163393462	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:163393462G>T	ENST00000332142.5	-	3	535	c.436C>A	c.(436-438)Cca>Aca	p.P146T	KCNH7_ENST00000328032.4_Missense_Mutation_p.P146T	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	146					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GGTAATATTGGGTTTACCCTC	0.378000													63	98					1.84395e-34	2.6359e-34	0.014410	1	0
GFRAL	389400	broad.mit.edu	37	6	55223861	55223861	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:55223861T>A	ENST00000340465.2	+	6	963	c.877T>A	c.(877-879)Tgt>Agt	p.C293S		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	293						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCAATGTACCTGTAGGACCAT	0.398000													31	63					0	0	0.010818	0	0
FANCI	55215	broad.mit.edu	37	15	89804006	89804006	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:89804006C>G	ENST00000310775.7	+	4	306	c.220C>G	c.(220-222)Cag>Gag	p.Q74E	FANCI_ENST00000567996.1_Missense_Mutation_p.Q74E|FANCI_ENST00000451393.2_5'UTR|FANCI_ENST00000300027.8_Missense_Mutation_p.Q74E	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	74					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TTGTTGTATCCAGTTGGTGGA	0.423000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				16	83					0	0	0.004007	0	0
RIMBP3	85376	broad.mit.edu	37	22	20458180	20458180	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr22:20458180T>A	ENST00000426804.1	-	1	3606	c.3122A>T	c.(3121-3123)tAc>tTc	p.Y1041F		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CTGGAAGGTGTAGCAGCTCAC	0.642000													4	29					0	0	0.001168	0	0
ITIH5	80760	broad.mit.edu	37	10	7708844	7708844	+	Silent	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:7708844C>A	ENST00000256861.6	-	1	90	c.12G>T	c.(10-12)ctG>ctT	p.L4L	ITIH5_ENST00000397145.2_Silent_p.L4L|ITIH5_ENST00000397146.2_Silent_p.L4L|ITIH5_ENST00000446830.2_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	4					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ACAGCCCCAGCAGCAGGAGCA	0.731000													5	18					8.12818e-05	8.57014e-05	0.001984	1	0
NTRK3	4916	broad.mit.edu	37	15	88420304	88420304	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:88420304G>A	ENST00000394480.1	-	19	2661	c.2340C>T	c.(2338-2340)gtC>gtT	p.V780V	NTRK3_ENST00000360948.2_Silent_p.V794V|NTRK3_ENST00000557856.1_Silent_p.V772V|NTRK3_ENST00000357724.2_Silent_p.V786V|NTRK3_ENST00000355254.2_Silent_p.V780V	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	794	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTTTGGGGCAGACTCGGGGCC	0.522000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			7	42					0	0	0.001984	0	0
PIK3CD	5293	broad.mit.edu	37	1	9775652	9775652	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:9775652C>T	ENST00000536656.1	+	4	403	c.195C>T	c.(193-195)ccC>ccT	p.P65P	PIK3CD_ENST00000377346.4_Silent_p.P65P|PIK3CD_ENST00000361110.2_Silent_p.P65P			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	65					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		TCAGTGGCCCCGAGGCCTATG	0.647000													10	21					0	0	0.010729	0	0
ERBB4	2066	broad.mit.edu	37	2	212495206	212495206	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:212495206C>A	ENST00000342788.4	-	17	2370	c.2060G>T	c.(2059-2061)aGa>aTa	p.R687I	ERBB4_ENST00000402597.1_Missense_Mutation_p.R677I|ERBB4_ENST00000436443.1_Missense_Mutation_p.R687I	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	687					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CAAGAATCTTCTCAAGGCTCT	0.388000										TSP Lung(8;0.080)			25	75					3.08376e-08	3.45567e-08	0.003330	1	0
FBN1	2200	broad.mit.edu	37	15	48776017	48776017	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:48776017A>G	ENST00000316623.5	-	31	4291	c.3836T>C	c.(3835-3837)gTa>gCa	p.V1279A		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1279	EGF-like 20; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTGCTTACCTACACAAGTCTT	0.383000													14	45					0	0	0.003163	0	0
DENND4A	10260	broad.mit.edu	37	15	65968863	65968863	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:65968863G>A	ENST00000443035.3	-	24	4501	c.4286C>T	c.(4285-4287)tCt>tTt	p.S1429F	DENND4A_ENST00000431932.2_Missense_Mutation_p.S1386F	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GGTCTCTTGAGAGGAGATAGG	0.458000													20	13					0	0	0.008871	0	0
SLC24A5	283652	broad.mit.edu	37	15	48434324	48434324	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:48434324G>T	ENST00000341459.3	+	9	1352	c.1279G>T	c.(1279-1281)Gga>Tga	p.G427*	SLC24A5_ENST00000449382.2_Nonsense_Mutation_p.G367*|MYEF2_ENST00000267836.6_3'UTR|MYEF2_ENST00000324324.7_3'UTR	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	427					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		ATTTATAAATGGATCAGCTCC	0.363000													53	62					5.13769e-22	6.94366e-22	0.014410	1	0
F5	2153	broad.mit.edu	37	1	169505920	169505920	+	Splice_Site	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:169505920T>C	ENST00000367796.3	-	14	5013		c.e14-2		F5_ENST00000367797.3_Splice_Site			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)						cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCTGTTTCCCTGAAATAATAA	0.323000													19	37					0	0	0.014323	0	0
GRM8	2918	broad.mit.edu	37	7	126410105	126410105	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:126410105C>G	ENST00000339582.2	-	7	1979	c.1171G>C	c.(1171-1173)Gct>Cct	p.A391P	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.A391P|GRM8_ENST00000405249.1_Missense_Mutation_p.A391P|GRM8_ENST00000358373.3_Missense_Mutation_p.A391P			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	391					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GAATCCCGAGCAATTCGCTCC	0.388000										HNSCC(24;0.065)			12	18					0	0	0.002450	0	0
PENK	5179	broad.mit.edu	37	8	57353839	57353839	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:57353839T>C	ENST00000314922.3	-	2	872	c.796A>G	c.(796-798)Aga>Gga	p.R266G	PENK_ENST00000451791.2_Missense_Mutation_p.R266G	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	266					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TATTAAAATCTCATAAATCCT	0.478000													3	177					0	0	0.004672	0	0
FAM227B	196951	broad.mit.edu	37	15	49833958	49833958	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:49833958C>A	ENST00000299338.6	-	10	1096	c.793G>T	c.(793-795)Gaa>Taa	p.E265*	FAM227B_ENST00000561064.1_Nonsense_Mutation_p.E231*	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		GGAAATGCTTCATGGAACGTT	0.264000													24	95					1.17739e-12	1.42308e-12	0.005443	1	0
GABRA5	2558	broad.mit.edu	37	15	27159966	27159966	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:27159966G>T	ENST00000335625.5	+	7	1402	c.514G>T	c.(514-516)Gag>Tag	p.E172*	GABRA5_ENST00000557449.1_3'UTR|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000400081.3_Nonsense_Mutation_p.E172*|GABRA5_ENST00000355395.5_Nonsense_Mutation_p.E172*	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	172					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CATCTCTGCAGAGTGCCCCAT	0.478000													7	41					0.000157383	0.00016516	0.003080	1	0
DAAM2	23500	broad.mit.edu	37	6	39843198	39843198	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:39843198G>T	ENST00000538976.1	+	11	1437	c.1255G>T	c.(1255-1257)Gac>Tac	p.D419Y	DAAM2_ENST00000398904.2_Missense_Mutation_p.D419Y|DAAM2_ENST00000274867.4_Missense_Mutation_p.D419Y	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	419					actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGTGGACCCTGACCTGGCTCC	0.572000													24	40					5.35356e-11	6.28339e-11	0.016522	1	0
ELTD1	64123	broad.mit.edu	37	1	79403504	79403504	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:79403504A>T	ENST00000370742.3	-	6	811	c.748T>A	c.(748-750)Tca>Aca	p.S250T		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	250					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ATATCCGTTGAATTTGTATCA	0.378000													61	51					0	0	0.014410	0	0
CUTC	51076	broad.mit.edu	37	10	101510142	101510142	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:101510142T>C	ENST00000370476.5	+	7	719	c.590T>C	c.(589-591)gTg>gCg	p.V197A		NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	197					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		GGCAGGATTGTGGTAATGCCA	0.338000													20	41					0	0	0.010504	0	0
ITIH6	347365	broad.mit.edu	37	X	54784525	54784525	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chrX:54784525G>C	ENST00000218436.6	-	8	2011	c.1982C>G	c.(1981-1983)tCa>tGa	p.S661*		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	661					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										CACAGGCCTTGATTTGGGGGA	0.542000													12	47					0	0	0.013537	0	0
MTCH2	23788	broad.mit.edu	37	11	47653242	47653242	+	Missense_Mutation	SNP	G	G	C	rs146228351	by1000genomes	TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:47653242G>C	ENST00000302503.3	-	6	548	c.391C>G	c.(391-393)Cgt>Ggt	p.R131G	MTCH2_ENST00000542981.1_Intron	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	131					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GCAGCAGAACGAGCGATCATC	0.423000													16	45					0	0	0.004990	0	0
CSMD3	114788	broad.mit.edu	37	8	114389005	114389005	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:114389005C>A	ENST00000343508.3	-	2	190	c.20G>T	c.(19-21)tGc>tTc	p.C7F	CSMD3_ENST00000297405.5_Intron|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Intron	NM_198124.1	NP_937757.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	46						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGTTTCCAGCAAAGGAACCA	0.542000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			37	43					3.21399e-22	4.35697e-22	0.004878	1	0
PANK1	53354	broad.mit.edu	37	10	91404850	91404850	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:91404850C>T	ENST00000307534.4	-	1	365	c.210G>A	c.(208-210)gcG>gcA	p.A70A		NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	70					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	gccccccgcgcgccggcccca	0.801000													3	2					0	0	0.004672	0	0
ACSM5	54988	broad.mit.edu	37	16	20451218	20451218	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:20451218G>A	ENST00000331849.4	+	13	1780	c.1633G>A	c.(1633-1635)Gct>Act	p.A545T		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	545					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						AAGGGTGACTGCTCCATACAA	0.537000													21	56					0	0	0.003954	0	0
SPOP	8405	broad.mit.edu	37	17	47696729	47696729	+	Silent	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:47696729G>C	ENST00000393331.3	-	6	689	c.219C>G	c.(217-219)ccC>ccG	p.P73P	SPOP_ENST00000393328.2_Silent_p.P73P|SPOP_ENST00000503676.1_Silent_p.P73P|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000347630.2_Silent_p.P73P|SPOP_ENST00000504102.1_Silent_p.P73P	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	73	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CTAACCCTTTGGGGTTTACTC	0.398000										Prostate(2;0.17)			15	27					0	0	0.004007	0	0
HMHA1	23526	broad.mit.edu	37	19	1080350	1080350	+	Silent	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:1080350T>A	ENST00000313093.2	+	14	2031	c.1800T>A	c.(1798-1800)acT>acA	p.T600T	HMHA1_ENST00000590214.1_Silent_p.T627T|HMHA1_ENST00000536472.1_Silent_p.T440T|HMHA1_ENST00000586866.1_Silent_p.T604T|HMHA1_ENST00000543365.1_Silent_p.T483T|HMHA1_ENST00000539243.2_Silent_p.T616T|HMHA1_ENST00000590577.1_Silent_p.T235T	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	600					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGGTGCACTGAGGGCACAC	0.706000													6	29					0	0	0.001168	0	0
ZFYVE27	118813	broad.mit.edu	37	10	99512906	99512906	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:99512906C>T	ENST00000393677.4	+	10	1213	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W	ZFYVE27_ENST00000356257.4_Missense_Mutation_p.R342W|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.R212W|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.R330W|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.R330W|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.R298W|ZFYVE27_ENST00000370610.3_Missense_Mutation_p.R237W|ZFYVE27_ENST00000357540.4_Missense_Mutation_p.R244W	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	337					cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		GCTCACGGAGCGGCTCCGCAA	0.672000													3	9					0	0	0.001984	0	0
GLYCTK	132158	broad.mit.edu	37	3	52327209	52327209	+	Splice_Site	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:52327209G>T	ENST00000471180.1	+	5	827		c.e5+1		GLYCTK_ENST00000354773.4_3'UTR|GLYCTK_ENST00000436784.2_3'UTR|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000473032.1_Splice_Site			Q8IVS8	GLCTK_HUMAN	glycerate kinase						protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		GCAGAGCAAGGTTGGTCCTCA	0.567000													5	7					0.014758	0.015166	0.014758	1	0
NID2	22795	broad.mit.edu	37	14	52509605	52509605	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:52509605G>C	ENST00000216286.5	-	6	1473	c.1474C>G	c.(1474-1476)Cac>Gac	p.H492D	NID2_ENST00000541773.1_Missense_Mutation_p.H439D	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	492	EGF-like 1.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CATTGTCTGTGGTTGTGTTCA	0.458000													30	46					0	0	0.008361	0	0
SEL1L2	80343	broad.mit.edu	37	20	13847424	13847424	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:13847424G>A	ENST00000284951.5	-	15	1402	c.1328C>T	c.(1327-1329)cCc>cTc	p.P443L	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.P443L			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	443						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AATGGCAAGGGGCTGCCCACT	0.408000													32	41					0	0	0.010818	0	0
EPRS	2058	broad.mit.edu	37	1	220156625	220156625	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:220156625T>A	ENST00000366923.3	-	22	3475	c.3206A>T	c.(3205-3207)aAg>aTg	p.K1069M		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1069	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	ACCAAGTTTCTTGATCTCAGC	0.423000													53	68					0	0	0.014410	0	0
KCNH7	90134	broad.mit.edu	37	2	163374347	163374347	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:163374347C>A	ENST00000332142.5	-	4	884	c.785G>T	c.(784-786)aGa>aTa	p.R262I	KCNH7_ENST00000328032.4_Missense_Mutation_p.R262I|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	262					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTCCCTTGATCTGGAATGGGA	0.493000													42	56					4.32679e-17	5.54526e-17	0.006999	1	0
GAD2	2572	broad.mit.edu	37	10	26581417	26581417	+	Silent	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:26581417T>C	ENST00000376261.3	+	14	1913	c.1410T>C	c.(1408-1410)caT>caC	p.H470H	GAD2_ENST00000259271.3_Silent_p.H470H	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	470					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TTGAAGCGCATGTTGATAAAT	0.438000													12	20					0	0	0.002450	0	0
CD1E	913	broad.mit.edu	37	1	158326571	158326571	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:158326571G>A	ENST00000444681.2	+	5	1048	c.755G>A	c.(754-756)gGa>gAa	p.G252E	CD1E_ENST00000368155.3_Missense_Mutation_p.G194E|CD1E_ENST00000368167.3_Missense_Mutation_p.G351E|CD1E_ENST00000452291.2_Missense_Mutation_p.G162E|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368166.3_Missense_Mutation_p.G150E|CD1E_ENST00000368154.1_Missense_Mutation_p.G107E|CD1E_ENST00000368156.1_Missense_Mutation_p.G249E|CD1E_ENST00000368163.3_Missense_Mutation_p.G284E|CD1E_ENST00000368160.3_Missense_Mutation_p.G339E|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368157.1_Missense_Mutation_p.G95E|CD1E_ENST00000368165.3_Missense_Mutation_p.G261E	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	351	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TTTCTCATGGGAGCCAACACT	0.428000													45	58					0	0	0.011902	0	0
NPM1	4869	broad.mit.edu	37	5	170818333	170818333	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:170818333G>A	ENST00000296930.5	+	3	464	c.163G>A	c.(163-165)Gat>Aat	p.D55N	NPM1_ENST00000351986.6_Missense_Mutation_p.D55N|NPM1_ENST00000393820.2_Missense_Mutation_p.D55N|NPM1_ENST00000517671.1_Missense_Mutation_p.D55N	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	55	Necessary for interaction with APEX1.|Required for interaction with SENP3.				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGTGCAAAGGATGAGTTGCA	0.403000			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""								21	29					0	0	0.016522	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766927	77766927	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:77766927C>T	ENST00000521891.2	+	10	8218	c.7770C>T	c.(7768-7770)tgC>tgT	p.C2590C	ZFHX4_ENST00000455469.2_Silent_p.C2545C|ZFHX4_ENST00000050961.6_Silent_p.C2545C|ZFHX4_ENST00000518282.1_Silent_p.C2564C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2545						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATAATAATTGCAGTGAAAAAG	0.473000										HNSCC(33;0.089)			10	24					0	0	0.006214	0	0
VSIG1	340547	broad.mit.edu	37	X	107310364	107310364	+	Splice_Site	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chrX:107310364G>A	ENST00000415430.3	+	4	681	c.520_splice	c.e4+1	p.V174_splice	VSIG1_ENST00000485533.1_3'UTR|VSIG1_ENST00000217957.5_Splice_Site_p.V138_splice	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	138	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						CAGTGTGTTAGGTATGAGCAC	0.438000													73	16					0	0	0.014410	0	0
SPRY3	10251	broad.mit.edu	37	X	155003585	155003585	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chrX:155003585C>T	ENST00000302805.2	+	2	483	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	18					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TATTGAACAGCTGCGCTCTAC	0.488000													74	39					0	0	0.014410	0	0
FCHO1	23149	broad.mit.edu	37	19	17892276	17892276	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:17892276C>T	ENST00000594202.1	+	22	2035	c.1756C>T	c.(1756-1758)Ccc>Tcc	p.P586S	FCHO1_ENST00000252771.7_Missense_Mutation_p.P586S|FCHO1_ENST00000539407.1_Missense_Mutation_p.P586S|FCHO1_ENST00000600676.1_Missense_Mutation_p.P586S|FCHO1_ENST00000595033.1_Missense_Mutation_p.P536S|FCHO1_ENST00000389133.4_Missense_Mutation_p.P586S|FCHO1_ENST00000597512.1_Missense_Mutation_p.P593S|FCHO1_ENST00000596951.1_Missense_Mutation_p.P586S|FCHO1_ENST00000596536.1_Missense_Mutation_p.P586S	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	586										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TTCCCTGAGCCCCTCCCCACT	0.637000													18	12					0	0	0.012319	0	0
TTN	7273	broad.mit.edu	37	2	179587165	179587165	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:179587165A>T	ENST00000589042.1	-	77	22573	c.22349T>A	c.(22348-22350)gTg>gAg	p.V7450E	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V6206E|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V7133E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7133	Ig-like 56.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACCAGCACACTTGGATGGG	0.388000													63	82					0	0	0.014410	0	0
EPM2AIP1	9852	broad.mit.edu	37	3	37034472	37034472	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:37034472C>A	ENST00000322716.5	-	1	323	c.97G>T	c.(97-99)Gag>Tag	p.E33*		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	33						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						CCATCGCCCTCCGGAGGCTCC	0.607000													23	15					3.83957e-06	4.16654e-06	0.016522	1	0
MPP5	64398	broad.mit.edu	37	14	67768785	67768785	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:67768785G>T	ENST00000261681.4	+	6	1412	c.751G>T	c.(751-753)Gga>Tga	p.G251*	MPP5_ENST00000555925.1_Nonsense_Mutation_p.G217*	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	251					tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		CCAGTATGGAGGAGAAACTGT	0.413000													36	36					4.14481e-20	5.48541e-20	0.006230	1	0
VPS33B	26276	broad.mit.edu	37	15	91546342	91546342	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:91546342G>T	ENST00000333371.3	-	17	1598	c.1245C>A	c.(1243-1245)taC>taA	p.Y415*	VPS33B_ENST00000535906.1_Nonsense_Mutation_p.Y388*|VPS33B_ENST00000535843.1_Nonsense_Mutation_p.Y324*	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	415					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					TCAGAGATCGGTAATCCTTGG	0.458000													73	60					6.86016e-32	9.71312e-32	0.014410	1	0
MOS	4342	broad.mit.edu	37	8	57025647	57025647	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:57025647G>C	ENST00000311923.1	-	1	894	c.895C>G	c.(895-897)Ctc>Gtc	p.L299V		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	299	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GCAGCGGAGAGGGACGGGCGC	0.687000													13	26					0	0	0.013537	0	0
TTN	7273	broad.mit.edu	37	2	179466061	179466061	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:179466061C>T	ENST00000589042.1	-	287	55887	c.55663G>A	c.(55663-55665)Gca>Aca	p.A18555T	TTN_ENST00000359218.5_Missense_Mutation_p.A9615T|TTN_ENST00000342992.6_Missense_Mutation_p.A15987T|TTN_ENST00000342175.6_Missense_Mutation_p.A9682T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A16914T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A9490T|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16914	Fibronectin type-III 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGGTTTTCTGCTCGCACACGG	0.433000													30	51					0	0	0.012213	0	0
SPATA2	9825	broad.mit.edu	37	20	48522917	48522917	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:48522917G>T	ENST00000422556.1	-	3	1151	c.802C>A	c.(802-804)Ctg>Atg	p.L268M	SPATA2_ENST00000543716.1_Missense_Mutation_p.L131M|SPATA2_ENST00000289431.5_Missense_Mutation_p.L268M	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	268					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GAGGCCTTCAGGGGTGGCTTC	0.617000													30	38					2.85442e-18	3.73334e-18	0.010818	1	0
FASLG	356	broad.mit.edu	37	1	172628386	172628386	+	Silent	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:172628386G>C	ENST00000367721.2	+	1	229	c.45G>C	c.(43-45)gtG>gtC	p.V15V	FASLG_ENST00000340030.3_Silent_p.V15V	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	15	Pro-rich.				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						TCTACTGGGTGGACAGCAGTG	0.592000													5	61					0	0	0.014758	0	0
PLXNA1	5361	broad.mit.edu	37	3	126739087	126739087	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:126739087A>T	ENST00000393409.2	+	20	3938	c.3938A>T	c.(3937-3939)gAc>gTc	p.D1313V	PLXNA1_ENST00000251772.4_Missense_Mutation_p.D1290V	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1313					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTGACCAATGACCTGGACGGT	0.627000													20	37					0	0	0.008871	0	0
SIN3B	23309	broad.mit.edu	37	19	16962311	16962311	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:16962311C>T	ENST00000379803.1	+	6	829	c.815C>T	c.(814-816)cCc>cTc	p.P272L	SIN3B_ENST00000248054.5_Missense_Mutation_p.P272L|SIN3B_ENST00000596802.1_Missense_Mutation_p.P272L	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	272					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CGCTCCCGGCCCTCGCTCCTC	0.652000													11	49					0	0	0.013537	0	0
SLC35F5	80255	broad.mit.edu	37	2	114500440	114500440	+	Silent	SNP	A	A	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:114500440A>G	ENST00000245680.2	-	7	992	c.579T>C	c.(577-579)cgT>cgC	p.R193R	SLC35F5_ENST00000409342.1_Silent_p.R187R	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	193					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						TGAACCTCACACGAGACTTTT	0.353000													19	52					0	0	0.008871	0	0
NINL	22981	broad.mit.edu	37	20	25456905	25456905	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:25456905C>A	ENST00000278886.6	-	17	3095	c.3022G>T	c.(3022-3024)Ggg>Tgg	p.G1008W	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1008					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TTGTGACACCCAGGCTCCAGG	0.677000													35	25					1.60099e-16	2.02852e-16	0.004878	1	0
ECH1	1891	broad.mit.edu	37	19	39322049	39322049	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:39322049T>A	ENST00000221418.4	-	2	392	c.160A>T	c.(160-162)Agc>Tgc	p.S54C	AC104534.3_ENST00000594769.1_Silent_p.T223T|ECH1_ENST00000597805.1_Intron	NM_001398.2	NP_001389.2			enoyl CoA hydratase 1, peroxisomal											cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GACTCATAGCTGTGGTCTGGG	0.567000													40	80					0	0	0.009718	0	0
LRRC66	339977	broad.mit.edu	37	4	52861265	52861265	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:52861265G>A	ENST00000343457.3	-	4	1929	c.1923C>T	c.(1921-1923)tcC>tcT	p.S641S		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	641						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CCCTTGCCCCGGACAGCCTTG	0.527000													3	44					0	0	0.004672	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31142969	31142969	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:31142969G>T	ENST00000304166.4	+	14	1454	c.1165G>T	c.(1165-1167)Ggc>Tgc	p.G389C	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.G368C|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.G417C|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.G445C	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	389					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GCTGGGGCTGGGCTCCTTCCA	0.547000													13	67					4.3838e-07	4.83954e-07	0.001855	1	0
PRR23B	389151	broad.mit.edu	37	3	138738793	138738793	+	Silent	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:138738793C>A	ENST00000329447.5	-	1	975	c.711G>T	c.(709-711)ccG>ccT	p.P237P	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	237	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCCCACGCACGGAGAGGGAG	0.662000													14	18					7.93312e-07	8.73623e-07	0.002450	1	0
UIMC1	51720	broad.mit.edu	37	5	176396024	176396024	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:176396024G>A	ENST00000377219.2	-	6	898	c.732C>T	c.(730-732)ctC>ctT	p.L244L	UIMC1_ENST00000506128.1_Intron|UIMC1_ENST00000511320.1_Silent_p.L244L|UIMC1_ENST00000377227.4_Silent_p.L244L	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	244					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACAGCTTTGAGAAAAGCAG	0.517000													14	68					0	0	0.004007	0	0
ZNF629	23361	broad.mit.edu	37	16	30793202	30793202	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:30793202C>A	ENST00000262525.4	-	3	2654	c.2447G>T	c.(2446-2448)gGc>gTc	p.G816V		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	816					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AGGGGTCTCGCCCTCACCTTC	0.612000													68	72					6.25564e-26	8.66465e-26	0.014410	1	0
HIST1H1T	3010	broad.mit.edu	37	6	26108148	26108148	+	Silent	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:26108148T>A	ENST00000338379.4	-	1	216	c.174A>T	c.(172-174)cgA>cgT	p.R58R		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	58	H15.				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						ACATACCTACTCGTTCCTGTG	0.532000													24	56					0	0	0.003954	0	0
SKI	6497	broad.mit.edu	37	1	2160628	2160628	+	Silent	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:2160628G>C	ENST00000378536.4	+	1	495	c.423G>C	c.(421-423)gcG>gcC	p.A141A		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	141					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		AGATCAACGCGGTGTGCGACG	0.632000													12	3					0	0	0.013537	0	0
NPAS3	64067	broad.mit.edu	37	14	34269385	34269385	+	Silent	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:34269385C>A	ENST00000346562.2	+	11	1850	c.1776C>A	c.(1774-1776)ggC>ggA	p.G592G	NPAS3_ENST00000356141.4_Silent_p.G624G|NPAS3_ENST00000551492.1_Silent_p.G629G|NPAS3_ENST00000357798.5_Silent_p.G611G|NPAS3_ENST00000548645.1_Silent_p.G594G	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	624					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CGAGCCCAGGCGGCCTGGACG	0.672000													17	6					3.52763e-06	3.83737e-06	0.004990	1	0
MUC5AC	4586	broad.mit.edu	37	11	1162107	1162107	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:1162107G>A	ENST00000356191.2	+	19	1689	c.1689G>A	c.(1687-1689)caG>caA	p.Q563Q						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		TCCGTGGGCAGACCTGCGGTA	0.657000													3	5					0	0	0.004672	0	0
MME	4311	broad.mit.edu	37	3	154860118	154860118	+	Splice_Site	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:154860118A>T	ENST00000460393.1	+	12	1307	c.1188_splice	c.e12+1	p.K396_splice	MME_ENST00000360490.2_Splice_Site_p.K396_splice|MME_ENST00000462745.1_Splice_Site_p.K396_splice|MME_ENST00000492661.1_Splice_Site_p.K396_splice|MME_ENST00000493237.1_Splice_Site_p.K396_splice	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	396					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GCTTTCCGCAAGGTGAAGAAA	0.388000													10	107					0	0	0.006214	0	0
LINGO2	158038	broad.mit.edu	37	9	27949285	27949285	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr9:27949285A>G	ENST00000379992.2	-	6	1834	c.1385T>C	c.(1384-1386)gTg>gCg	p.V462A	LINGO2_ENST00000308675.3_Missense_Mutation_p.V462A	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	462	Ig-like C2-type.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		ATCACCCAACACGGTGGCTCT	0.537000													23	17					0	0	0.014323	0	0
ADRBK2	157	broad.mit.edu	37	22	26040617	26040617	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr22:26040617G>A	ENST00000324198.5	+	3	441	c.249G>A	c.(247-249)gtG>gtA	p.V83V		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	83	N-terminal.|RGS.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	TACCTCAGGTGAAGTTTTATG	0.279000													8	15					0	0	0.003080	0	0
WDR62	284403	broad.mit.edu	37	19	36557244	36557244	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:36557244C>A	ENST00000401500.2	+	5	511	c.476C>A	c.(475-477)gCg>gAg	p.A159E	WDR62_ENST00000388999.3_Missense_Mutation_p.A159E|WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000270301.7_Missense_Mutation_p.A159E	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	159					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TATGGTGTGGCGTGTGTGGCC	0.562000													7	6					1.26484e-09	1.45018e-09	0.003080	1	0
IRGQ	126298	broad.mit.edu	37	19	44096234	44096234	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:44096234C>T	ENST00000422989.1	-	3	1971	c.1816G>A	c.(1816-1818)Gat>Aat	p.D606N	IRGQ_ENST00000602269.1_Missense_Mutation_p.D606N|IRGQ_ENST00000601520.1_Intron|L34079.2_ENST00000594374.1_Intron	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	606	Ala-rich.						protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CGCATCTCATCGAGAGCCTGC	0.682000													16	93					0	0	0.004007	0	0
SLC17A3	10786	broad.mit.edu	37	6	25851036	25851036	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:25851036C>T	ENST00000397060.4	-	7	891	c.782G>A	c.(781-783)tGg>tAg	p.W261*	SLC17A3_ENST00000360657.3_Nonsense_Mutation_p.W183*|SLC17A3_ENST00000361703.6_Nonsense_Mutation_p.W183*	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	183					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						GGTGCTTATCCATGGATAGGA	0.413000													13	37					0	0	0.001855	0	0
TANC1	85461	broad.mit.edu	37	2	160035608	160035608	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:160035608C>T	ENST00000263635.6	+	14	2681	c.2444C>T	c.(2443-2445)cCg>cTg	p.P815L	TANC1_ENST00000454300.1_Missense_Mutation_p.P709L	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	815						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TTCTGCCACCCGTCCTTCAGG	0.577000													45	73					0	0	0.014410	0	0
ADCY2	108	broad.mit.edu	37	5	7698397	7698397	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:7698397G>A	ENST00000338316.4	+	7	1108	c.1019G>A	c.(1018-1020)tGc>tAc	p.C340Y	ADCY2_ENST00000537121.1_Missense_Mutation_p.C160Y	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	340					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTAGGAGACTGCTACTACTGT	0.393000													39	162					0	0	0.007835	0	0
MYLK3	91807	broad.mit.edu	37	16	46771856	46771856	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:46771856C>T	ENST00000394809.4	-	3	883	c.768G>A	c.(766-768)gaG>gaA	p.E256E	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	256					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCCTGAGGTTCTCGCTGGGTG	0.647000													23	17					0	0	0.014323	0	0
TNFSF4	7292	broad.mit.edu	37	1	173157708	173157708	+	Splice_Site	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:173157708C>G	ENST00000281834.3	-	2	290	c.153_splice	c.e2-1	p.V52_splice	TNFSF4_ENST00000367718.1_Splice_Site_p.V2_splice|TNFSF4_ENST00000488053.1_5'UTR	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	52					acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						CGATGTGATACCTGAGGGAGG	0.328000													17	99					0	0	0.007413	0	0
DDX60L	91351	broad.mit.edu	37	4	169369891	169369891	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:169369891C>A	ENST00000511577.1	-	9	1283	c.1036G>T	c.(1036-1038)Gtt>Ttt	p.V346F	DDX60L_ENST00000505890.1_Missense_Mutation_p.V346F|DDX60L_ENST00000260184.7_Missense_Mutation_p.V346F			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	346							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CATCCAAAAACGTTTAAGTTG	0.303000													9	24					1.58986e-06	1.73794e-06	0.008291	1	0
KTI12	112970	broad.mit.edu	37	1	52499425	52499425	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:52499425G>A	ENST00000371614.1	-	1	63	c.9C>T	c.(7-9)ctC>ctT	p.L3L	TXNDC12_ENST00000472624.1_Intron|TXNDC12_ENST00000371626.4_Intron|RP11-91A18.4_ENST00000425802.1_RNA	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	3							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						AAAACACCACGAGCGGCATCC	0.662000													8	3					0	0	0.004482	0	0
CCDC88C	440193	broad.mit.edu	37	14	91739649	91739649	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:91739649G>A	ENST00000389857.6	-	30	5493	c.5407C>T	c.(5407-5409)Cgg>Tgg	p.R1803W	CCDC88C_ENST00000331194.7_Missense_Mutation_p.R327W	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1803				Missing (in Ref. 3; AAH35914).	microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTGAAGGCCCGGCTCAAGGAG	0.697000													3	7					0	0	0.004672	0	0
CD34	947	broad.mit.edu	37	1	208062192	208062192	+	Splice_Site	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:208062192C>G	ENST00000356522.4	-	7	1129		c.e7-1		CD34_ENST00000310833.7_Splice_Site|CD34_ENST00000485761.1_Splice_Site|CD34_ENST00000537704.1_Splice_Site|CD34_ENST00000367036.3_Splice_Site	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule						cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						GGATCCCCAGCTTGAAAAGAA	0.527000													64	128					0	0	0.014410	0	0
TRDN	10345	broad.mit.edu	37	6	123759228	123759228	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:123759228G>C	ENST00000334268.4	-	12	1348	c.1031C>G	c.(1030-1032)gCc>gGc	p.A344G	TRDN_ENST00000398178.3_Missense_Mutation_p.A344G			Q13061	TRDN_HUMAN	triadin	344					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CACATCAATGGCAGTTTCCTT	0.348000													4	11					0	0	0.009096	0	0
OPRL1	4987	broad.mit.edu	37	20	62729191	62729191	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:62729191C>G	ENST00000349451.3	+	5	682	c.270C>G	c.(268-270)atC>atG	p.I90M	OPRL1_ENST00000336866.2_Missense_Mutation_p.I90M|OPRL1_ENST00000355631.4_Missense_Mutation_p.I90M	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	90					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					ATATTTACATCTTTAACCTGG	0.577000													42	116					0	0	0.010771	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146536965	146536965	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:146536965G>T	ENST00000361727.3	+	3	887	c.371G>T	c.(370-372)tGg>tTg	p.W124L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	124	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGGAGAAACTGGAAACCCTAT	0.443000										HNSCC(39;0.1)			19	34					9.95505e-16	1.24718e-15	0.014323	1	0
MYH10	4628	broad.mit.edu	37	17	8396258	8396258	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:8396258C>T	ENST00000360416.3	-	33	4432	c.4294G>A	c.(4294-4296)Gcg>Acg	p.A1432T	MYH10_ENST00000379980.4_Missense_Mutation_p.A1417T|MYH10_ENST00000269243.4_Missense_Mutation_p.A1401T|MYH10_ENST00000396239.1_Missense_Mutation_p.A1422T	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1401					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AGGGCCTCCGCGTCCTTCAGA	0.537000													39	22					0	0	0.005524	0	0
TP53	7157	broad.mit.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	rs121912654		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:7578461C>A	ENST00000420246.2	-	5	601	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000269305.4_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	157	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (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.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(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)		ATGGCGCGGACGCGGGTGCCG	0.617000		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)			25	15					7.88262e-20	1.04013e-19	0.003330	1	0
BAI3	577	broad.mit.edu	37	6	69703783	69703783	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:69703783G>T	ENST00000370598.1	+	11	2679	c.1858G>T	c.(1858-1860)Gtg>Ttg	p.V620L		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	620					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCTGATGTCTGTGGAGATCCT	0.463000													53	70					1.86277e-20	2.47999e-20	0.014410	1	0
WNT2	7472	broad.mit.edu	37	7	116918348	116918348	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:116918348G>T	ENST00000265441.3	-	5	1243	c.944C>A	c.(943-945)aCc>aAc	p.T315N		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	315					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GACATGGGAGGTGTCGTAGCC	0.602000													32	24					1.08312e-15	1.34936e-15	0.009535	1	0
CACNA2D1	781	broad.mit.edu	37	7	81579768	81579768	+	Silent	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:81579768G>T	ENST00000356860.3	-	39	3554	c.3216C>A	c.(3214-3216)atC>atA	p.I1072I	CACNA2D1_ENST00000535308.1_Silent_p.I284I|CACNA2D1_ENST00000356253.5_Silent_p.I1084I	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1084						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GGATTCCAATGATATACCACA	0.388000													33	78					6.04164e-23	8.24028e-23	0.010818	1	0
ITIH6	347365	broad.mit.edu	37	X	54784495	54784495	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chrX:54784495G>C	ENST00000218436.6	-	8	2041	c.2012C>G	c.(2011-2013)tCc>tGc	p.S671C		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	671					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										AGTAGTTGAGGATAAGTAGAA	0.522000													17	64					0	0	0.004990	0	0
DEFB118	117285	broad.mit.edu	37	20	29960690	29960690	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:29960690G>C	ENST00000253381.2	+	2	122	c.89G>C	c.(88-90)aGa>aCa	p.R30T		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	30					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGCTGGAACAGATCAGGGCAC	0.403000													6	30					0	0	0.001168	0	0
LRRC37B	114659	broad.mit.edu	37	17	30358450	30358450	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:30358450G>T	ENST00000327564.7	+	5	2091	c.2030G>T	c.(2029-2031)tGg>tTg	p.W677L	LRRC37B_ENST00000543378.2_Missense_Mutation_p.W568L|LRRC37B_ENST00000341671.7_Missense_Mutation_p.W650L|LRRC37B_ENST00000584368.1_Intron|LRRC37B_ENST00000394713.3_Intron			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	650						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TTTCAGGCCTGGCACGGAATG	0.328000													11	95					0.000219431	0.000229733	0.002450	1	0
FAM227B	196951	broad.mit.edu	37	15	49868948	49868948	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:49868948T>C	ENST00000299338.6	-	7	839	c.536A>G	c.(535-537)cAt>cGt	p.H179R	FAM227B_ENST00000561064.1_Missense_Mutation_p.H179R|FAM227B_ENST00000558594.1_3'UTR	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		ATCAAAATTATGGGCTTTTAA	0.299000													23	10					0	0	0.016522	0	0
NOD1	10392	broad.mit.edu	37	7	30472736	30472736	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:30472736A>G	ENST00000222823.4	-	12	3206	c.2681T>C	c.(2680-2682)gTc>gCc	p.V894A		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	894					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CGTCTGGTTGACTTTCAACAT	0.358000													9	46					0	0	0.006214	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378425	114378425	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:114378425G>C	ENST00000312719.5	-	5	2225	c.1037C>G	c.(1036-1038)cCc>cGc	p.P346R	RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.P346R|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	346					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		ATTATTTTAGGGCCAGTTCAA	0.398000													17	44					0	0	0.004007	0	0
UGT2B15	7366	broad.mit.edu	37	4	69519769	69519769	+	Silent	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:69519769G>T	ENST00000338206.5	-	5	1308	c.1299C>A	c.(1297-1299)gtC>gtA	p.V433V		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	433					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										GGTCATTAATGACTGACTTCA	0.383000													5	107					2.0095e-06	2.19129e-06	0.001984	1	0
CNOT1	23019	broad.mit.edu	37	16	58594184	58594184	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:58594184G>A	ENST00000317147.5	-	17	2394	c.2062C>T	c.(2062-2064)Cca>Tca	p.P688S	CNOT1_ENST00000569240.1_Missense_Mutation_p.P688S|CNOT1_ENST00000441024.2_Missense_Mutation_p.P688S	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	688					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ACTCCAGGTGGTGGTTGTCTG	0.428000													29	43					0	0	0.008361	0	0
IGKV1D-43	28891	broad.mit.edu	37	2	90249395	90249395	+	RNA	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:90249395T>A	ENST00000468879.1	+	0	532																											ATAGTACCCCTCCCACAGTGT	0.517000													42	136					0	0	0.007835	0	0
SLC6A2	6530	broad.mit.edu	37	16	55690666	55690666	+	Silent	SNP	T	T	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:55690666T>G	ENST00000379906.2	+	1	315	c.60T>G	c.(58-60)ggT>ggG	p.G20G	SLC6A2_ENST00000561820.1_Silent_p.G20G|SLC6A2_ENST00000566163.1_Silent_p.G20G|SLC6A2_ENST00000414754.3_Silent_p.G20G|SLC6A2_ENST00000568943.1_Silent_p.G20G|SLC6A2_ENST00000219833.8_Silent_p.G20G	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	20					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CGGACACGGGTCCAGAGCAGC	0.697000													6	30					0	0	0.001168	0	0
IGKV1D-43	28891	broad.mit.edu	37	2	90249214	90249214	+	RNA	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:90249214G>T	ENST00000468879.1	+	0	351																											TATTTAGCCTGGTATCAGCAA	0.507000													48	191					3.21987e-24	4.43229e-24	0.014410	1	0
GPR158	57512	broad.mit.edu	37	10	25464376	25464376	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:25464376C>T	ENST00000376351.3	+	1	386	c.27C>T	c.(25-27)ctC>ctT	p.L9L	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	9						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ACCCCTTACTCCTCTGCCTCC	0.602000													23	29					0	0	0.003330	0	0
RYR2	6262	broad.mit.edu	37	1	237580388	237580388	+	Silent	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:237580388A>T	ENST00000366574.2	+	11	1130	c.813A>T	c.(811-813)gcA>gcT	p.A271A	RYR2_ENST00000542537.1_Silent_p.A255A|RYR2_ENST00000360064.6_Silent_p.A269A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	271	MIR 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGTTCATGCACGTTCCCTTT	0.423000													22	32					0	0	0.014323	0	0
CDKN2A	1029	broad.mit.edu	37	9	21970900	21970900	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr9:21970900C>A	ENST00000497750.1	-	2	379	c.305G>T	c.(304-306)gGt>gTt	p.G102V	CDKN2A_ENST00000579122.1_Intron|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000578845.2_Splice_Site|CDKN2A_ENST00000579755.1_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000446177.1_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			A -> E (in LFS; somatic mutation).|A -> T (in dbSNP:rs35741010).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(12)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCAGTCCTCACCTGAGGGACC	0.597000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			13	5					3.27435e-08	3.66005e-08	0.002450	1	0
ABCC1	4363	broad.mit.edu	37	16	16177363	16177363	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:16177363C>T	ENST00000399408.2	+	17	2431	c.2256C>T	c.(2254-2256)atC>atT	p.I752I	ABCC1_ENST00000346370.5_Silent_p.I752I|ABCC1_ENST00000349029.5_Intron|ABCC1_ENST00000345148.5_Silent_p.I752I|ABCC1_ENST00000351154.5_Intron|ABCC1_ENST00000399410.3_Silent_p.I752I			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	752	ABC transporter 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ACCTGGAAATCCTGCCCAGTG	0.517000													11	60					0	0	0.010729	0	0
MLXIPL	51085	broad.mit.edu	37	7	73010505	73010505	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:73010505A>C	ENST00000313375.3	-	13	2083	c.2036T>G	c.(2035-2037)cTc>cGc	p.L679R	MLXIPL_ENST00000395189.1_Missense_Mutation_p.L586R|MLXIPL_ENST00000354613.1_Missense_Mutation_p.L677R|MLXIPL_ENST00000434326.1_Missense_Mutation_p.L585R|MLXIPL_ENST00000429400.2_Missense_Mutation_p.L679R|MLXIPL_ENST00000414749.2_Missense_Mutation_p.L677R	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	679					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTGGGCACTGAGTGTGCTCAC	0.627000													12	55					0	0	0.013537	0	0
SPTA1	6708	broad.mit.edu	37	1	158641244	158641244	+	Splice_Site	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:158641244C>A	ENST00000368148.3	-	12	1669		c.e12-1		SPTA1_ENST00000368147.3_Splice_Site	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAGGAAGGCCTGTAGAAGAC	0.498000													15	36					3.41278e-10	3.97415e-10	0.004990	1	0
MAGEL2	54551	broad.mit.edu	37	15	23890312	23890312	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:23890312C>A	ENST00000532292.1	-	1	863	c.769G>T	c.(769-771)Gct>Tct	p.A257S		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGGGGGGCAGCTGCTGTAGCC	0.627000													17	53					1.02788e-11	1.23236e-11	0.004990	1	0
CTNND2	1501	broad.mit.edu	37	5	11411728	11411728	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:11411728C>G	ENST00000304623.8	-	5	548	c.359G>C	c.(358-360)gGt>gCt	p.G120A	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.G29A|CTNND2_ENST00000511377.1_Missense_Mutation_p.G29A|CTNND2_ENST00000359640.2_Missense_Mutation_p.G120A	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	120					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CAGCTCGAGACCTGTTGTAAG	0.368000													51	29					0	0	0.014410	0	0
TAF4	6874	broad.mit.edu	37	20	60584179	60584179	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:60584179T>A	ENST00000252996.3	-	5	1812	c.1813A>T	c.(1813-1815)Aaa>Taa	p.K605*		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	605	TAFH.				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GAAGCCAGTTTTATTAACGTA	0.348000													38	51					0	0	0.004878	0	0
PCDH11X	27328	broad.mit.edu	37	X	91131853	91131853	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chrX:91131853A>T	ENST00000373094.1	+	2	1459	c.614A>T	c.(613-615)aAg>aTg	p.K205M	PCDH11X_ENST00000373097.1_Missense_Mutation_p.K205M|PCDH11X_ENST00000406881.1_Missense_Mutation_p.K205M|PCDH11X_ENST00000373088.1_Missense_Mutation_p.K205M|PCDH11X_ENST00000361655.2_Missense_Mutation_p.K205M|PCDH11X_ENST00000395337.2_Missense_Mutation_p.K205M|PCDH11X_ENST00000298274.8_Missense_Mutation_p.K205M|PCDH11X_ENST00000361724.1_Missense_Mutation_p.K205M|PCDH11X_ENST00000504220.1_Missense_Mutation_p.K205M	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	205	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATTGTTCAAAAGGAGTTAGAT	0.398000													21	53					0	0	0.012319	0	0
TRIM35	23087	broad.mit.edu	37	8	27145527	27145527	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:27145527G>A	ENST00000305364.4	-	6	1105	c.1022C>T	c.(1021-1023)tCg>tTg	p.S341L	TRIM35_ENST00000521253.1_3'UTR	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	341	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GCAGGGCGCCGAGGAGAAGCG	0.682000													8	47					0	0	0.004482	0	0
COL11A1	1301	broad.mit.edu	37	1	103449723	103449723	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:103449723G>T	ENST00000358392.2	-	31	2880	c.2563C>A	c.(2563-2565)Cca>Aca	p.P855T	COL11A1_ENST00000370096.3_Missense_Mutation_p.P843T|COL11A1_ENST00000353414.4_Missense_Mutation_p.P804T|COL11A1_ENST00000512756.1_Missense_Mutation_p.P727T	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	843	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGATATCCTGGTAATCCTGGA	0.259000													7	9					1.12685e-05	1.21103e-05	0.004482	1	0
IFT88	8100	broad.mit.edu	37	13	21212594	21212594	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr13:21212594G>A	ENST00000382778.4	+	18	2655	c.1537G>A	c.(1537-1539)Gct>Act	p.A513T	IFT88_ENST00000351808.5_Missense_Mutation_p.A504T|IFT88_ENST00000537103.1_Missense_Mutation_p.A485T|IFT88_ENST00000319980.6_Missense_Mutation_p.A513T			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	513					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	p.A513T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TGAGAAGGCCGCTGAATTCTA	0.338000													73	52					0	0	0.014410	0	0
GRM1	2911	broad.mit.edu	37	6	146625871	146625871	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:146625871C>A	ENST00000392299.2	+	4	1545	c.1075C>A	c.(1075-1077)Ctg>Atg	p.L359M	GRM1_ENST00000282753.1_Missense_Mutation_p.L359M|GRM1_ENST00000492807.2_Missense_Mutation_p.L359M|GRM1_ENST00000355289.4_Missense_Mutation_p.L359M|GRM1_ENST00000361719.2_Missense_Mutation_p.L359M|GRM1_ENST00000507907.1_Missense_Mutation_p.L359M			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	359					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GAAACTGAGGCTGGACACTAA	0.493000													17	33					1.67942e-08	1.8867e-08	0.006122	1	0
NOS2	4843	broad.mit.edu	37	17	26108077	26108077	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:26108077G>A	ENST00000313735.6	-	8	1082	c.849C>T	c.(847-849)aaC>aaT	p.N283N		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	283					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TGAATTCCACGTTGGCAGGGT	0.632000													25	61					0	0	0.004656	0	0
SAMD9	54809	broad.mit.edu	37	7	92732854	92732854	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:92732854C>T	ENST00000379958.2	-	3	2826	c.2557G>A	c.(2557-2559)Gta>Ata	p.V853I		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	853						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCTGTATTACGGCAATACTG	0.333000													24	93					0	0	0.009535	0	0
AMZ1	155185	broad.mit.edu	37	7	2752343	2752343	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:2752343T>C	ENST00000312371.4	+	7	1696	c.1328T>C	c.(1327-1329)tTc>tCc	p.F443S	AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_3'UTR	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	443							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		TGGGAGATGTTCACGGGCCAG	0.687000													13	34					0	0	0.001855	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504404	151504404	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:151504404G>A	ENST00000317605.4	+	1	1328	c.223G>A	c.(223-225)Gag>Aag	p.E75K	LRBA_ENST00000510413.1_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	75					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		CACCGAATTTGAGGTGGTGCT	0.607000													9	19					0	0	0.010729	0	0
FUT10	84750	broad.mit.edu	37	8	33310959	33310959	+	Missense_Mutation	SNP	T	T	C	rs139365562		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:33310959T>C	ENST00000327671.5	-	3	782	c.151A>G	c.(151-153)Aaa>Gaa	p.K51E	FUT10_ENST00000524021.1_Missense_Mutation_p.K23E|FUT10_ENST00000518672.1_Missense_Mutation_p.K23E|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000335589.3_5'UTR	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	51					embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		TCCTCCATTTTTGTATGTCCA	0.378000													13	75					0	0	0.001855	0	0
KALRN	8997	broad.mit.edu	37	3	124048750	124048750	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:124048750G>A	ENST00000360013.3	+	8	1448	c.1321G>A	c.(1321-1323)Ggt>Agt	p.G441S	KALRN_ENST00000240874.3_Missense_Mutation_p.G441S|KALRN_ENST00000460856.1_Missense_Mutation_p.G441S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	441					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GTGCAGTGAAGGTGGTCTGCC	0.577000													33	32					0	0	0.015359	0	0
SMR3A	26952	broad.mit.edu	37	4	71232543	71232543	+	Silent	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:71232543C>A	ENST00000226460.4	+	3	333	c.237C>A	c.(235-237)tcC>tcA	p.S79S		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	79	Poly-Pro.|Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TCCCACCATCCCCTCCTCCAC	0.552000													42	68					8.68246e-10	1.00321e-09	0.014410	1	0
TRIL	9865	broad.mit.edu	37	7	28995715	28995715	+	RNA	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:28995715C>G	ENST00000322982.3	-	0	2219							Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine-rich repeats						inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										CCGCGCAGCTCGCGCAGCGTG	0.711000													2	7					0	0	0.004672	0	0
DCC	1630	broad.mit.edu	37	18	50731677	50731677	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr18:50731677C>A	ENST00000442544.2	+	10	2281	c.1665C>A	c.(1663-1665)aaC>aaA	p.N555K	DCC_ENST00000581580.1_Missense_Mutation_p.N210K|DCC_ENST00000412726.1_Missense_Mutation_p.N403K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	555	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCTATGCAAACGGTCCAGTCC	0.478000													47	102					1.32667e-27	1.86068e-27	0.014410	1	0
ANKRD36	375248	broad.mit.edu	37	2	97869830	97869830	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:97869830G>C	ENST00000420699.2	+	49	3229	c.2985G>C	c.(2983-2985)ttG>ttC	p.L995F	ANKRD36_ENST00000461153.2_Missense_Mutation_p.L995F	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	995										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CACCAGGCTTGAAGGTAATGA	0.308000													4	11					0	0	0.014758	0	0
INPP4B	8821	broad.mit.edu	37	4	143045799	143045799	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:143045799T>G	ENST00000513000.1	-	20	2268	c.1835A>C	c.(1834-1836)tAc>tCc	p.Y612S	INPP4B_ENST00000262992.4_Missense_Mutation_p.Y612S|INPP4B_ENST00000509777.1_Missense_Mutation_p.Y612S|INPP4B_ENST00000308502.4_Missense_Mutation_p.Y612S|INPP4B_ENST00000508116.1_Missense_Mutation_p.Y612S	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	612					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GGGCAAGCTGTACGCAAGTTC	0.502000													15	34					0	0	0.004007	0	0
OR11H6	122748	broad.mit.edu	37	14	20692620	20692620	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:20692620G>C	ENST00000315519.2	+	1	830	c.752G>C	c.(751-753)gGt>gCt	p.G251A		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TCTGGTGCTGGTCGAACTAAA	0.478000													15	12					0	0	0.008361	0	0
CRYGN	155051	broad.mit.edu	37	7	151133382	151133382	+	Silent	SNP	G	G	A	rs113942095	by1000genomes	TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:151133382G>A	ENST00000337323.2	-	3	426	c.300C>T	c.(298-300)ttC>ttT	p.F100F	RP4-555L14.4_ENST00000465549.1_RNA|CRYGN_ENST00000476631.1_5'UTR	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	100	Beta/gamma crystallin 'Greek key' 3.									central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCAACCCTCGAAGATTTCTA	0.537000													11	24					0	0	0.002450	0	0
ZDHHC3	51304	broad.mit.edu	37	3	45000811	45000811	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:45000811G>A	ENST00000296127.3	-	2	391	c.118C>T	c.(118-120)Cgt>Tgt	p.R40C	ZDHHC3_ENST00000424952.2_Missense_Mutation_p.R40C|ZDHHC3_ENST00000342790.4_Missense_Mutation_p.R40C	NM_016598.2	NP_057682.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	40						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		CAGCCGTCACGGATAAACCAC	0.547000													45	36					0	0	0.013114	0	0
SLC22A16	85413	broad.mit.edu	37	6	110746270	110746270	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:110746270C>T	ENST00000368919.3	-	8	1606	c.1540G>A	c.(1540-1542)Gcc>Acc	p.A514T	SLC22A16_ENST00000330550.4_Missense_Mutation_p.A480T	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	514					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CTCAGGAGGGCCATAGTCCCA	0.423000													30	49					0	0	0.009535	0	0
GK	2710	broad.mit.edu	37	X	30745636	30745636	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chrX:30745636A>T	ENST00000378943.3	+	19	1797	c.1618A>T	c.(1618-1620)Atg>Ttg	p.M540L	GK_ENST00000378945.3_Intron|GK_ENST00000427190.1_Missense_Mutation_p.M341L|GK_ENST00000378946.3_Intron	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	546					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						AGTGAGTAGCATGGTAATGTT	0.388000													10	5					0	0	0.010729	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204236663	204236663	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:204236663C>G	ENST00000272203.3	-	5	536	c.220G>C	c.(220-222)Gtt>Ctt	p.V74L	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.V74L	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	74	PH.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CACTGCTTAACCCCGGAGCTG	0.597000													18	51					0	0	0.007413	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755543	140755543	+	Silent	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:140755543C>G	ENST00000517434.1	+	1	1893	c.1893C>G	c.(1891-1893)gcC>gcG	p.A631A	PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCGCGCGCCCTGCTGGACA	0.701000													17	34					0	0	0.008871	0	0
RASA1	5921	broad.mit.edu	37	5	86675667	86675667	+	Splice_Site	SNP	C	C	T	rs138785106	by1000genomes	TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:86675667C>T	ENST00000456692.2	+	19	2187	c.2072_splice	c.e19+1	p.P691_splice	RASA1_ENST00000506290.1_Splice_Site_p.P702_splice|RASA1_ENST00000274376.6_Splice_Site_p.P868_splice|RASA1_ENST00000512763.1_Splice_Site_p.P701_splice	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	868					cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		ATACTTCCACCGTAAGTGGTG	0.303000													9	13					0	0	0.004482	0	0
S100A7A	338324	broad.mit.edu	37	1	153390678	153390678	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:153390678C>T	ENST00000368729.4	+	2	177	c.120C>T	c.(118-120)ttC>ttT	p.F40F	S100A7A_ENST00000329256.2_Silent_p.F40F|S100A7A_ENST00000368728.2_Silent_p.F40F	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	40	EF-hand 1.					cytoplasm	calcium ion binding	p.F40F(1)		cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGAGAACTTCCCCAATTTCC	0.488000													63	76					0	0	0.014410	0	0
PLCH1	23007	broad.mit.edu	37	3	155200709	155200709	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:155200709C>A	ENST00000460012.1	-	23	3373	c.3016G>T	c.(3016-3018)Gta>Tta	p.V1006L	PLCH1_ENST00000414191.1_Missense_Mutation_p.V1006L|PLCH1_ENST00000340059.7_Missense_Mutation_p.V1044L|PLCH1_ENST00000334686.6_Missense_Mutation_p.V1006L|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1044					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCAGTAGATACAATGGTGTCC	0.453000													38	160					7.53189e-24	1.03361e-23	0.007835	1	0
RAD21	5885	broad.mit.edu	37	8	117866561	117866561	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:117866561T>A	ENST00000297338.2	-	9	1371	c.1084A>T	c.(1084-1086)Atg>Ttg	p.M362L		NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	362	Interaction with STAG1.|Interaction with WAPAL and PDS5B.				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	p.M362L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TCTTTCCACATCATCAATTTC	0.383000													19	73					0	0	0.007413	0	0
COL25A1	84570	broad.mit.edu	37	4	109738585	109738585	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:109738585C>T	ENST00000399132.1	-	37	2460	c.1930G>A	c.(1930-1932)Gat>Aat	p.D644N		NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	644						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GGTAAGCCATCTGGCCCCTGT	0.388000													18	35					0	0	0.014323	0	0
TTN	7273	broad.mit.edu	37	2	179639115	179639115	+	Silent	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:179639115T>C	ENST00000589042.1	-	30	7100	c.6876A>G	c.(6874-6876)ccA>ccG	p.P2292P	TTN_ENST00000359218.5_Silent_p.P2246P|TTN_ENST00000342992.6_Silent_p.P2292P|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Silent_p.P2292P|TTN_ENST00000342175.6_Silent_p.P2246P|TTN_ENST00000591111.1_Silent_p.P2292P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.P2246P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2015	Ig-like 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTATATTTTCTGGGGATACAA	0.383000													60	95					0	0	0.014410	0	0
NRAP	4892	broad.mit.edu	37	10	115392938	115392938	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:115392938G>A	ENST00000369358.4	-	16	1781	c.1537C>T	c.(1537-1539)Cgt>Tgt	p.R513C	NRAP_ENST00000359988.3_Missense_Mutation_p.R513C|NRAP_ENST00000360478.3_Missense_Mutation_p.R478C|NRAP_ENST00000369360.3_Missense_Mutation_p.R478C			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	513						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TAGTCAGCACGGTAATTCACC	0.418000													15	42					0	0	0.004990	0	0
REPS1	85021	broad.mit.edu	37	6	139229952	139229952	+	Splice_Site	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:139229952C>T	ENST00000450536.2	-	18	2643	c.2067_splice	c.e18-1	p.S690_splice	REPS1_ENST00000409812.2_Splice_Site_p.S599_splice|REPS1_ENST00000258062.5_Splice_Site_p.S689_splice|REPS1_ENST00000415951.2_Splice_Site_p.S631_splice|REPS1_ENST00000367663.4_Splice_Site_p.S663_splice			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	690	Interaction with RALBP1 (By similarity).					coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TGTGCCTTTGCTCTTTAAGAC	0.363000													15	22					0	0	0.004990	0	0
NLRP8	126205	broad.mit.edu	37	19	56473475	56473475	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:56473475A>C	ENST00000291971.3	+	4	2156	c.2085A>C	c.(2083-2085)ttA>ttC	p.L695F	NLRP8_ENST00000590542.1_Missense_Mutation_p.L695F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	695						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GGCAAGACTTATGCTCTGTGT	0.493000													44	85					0	0	0.014410	0	0
MPRIP	23164	broad.mit.edu	37	17	17077275	17077275	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:17077275G>A	ENST00000395811.5	+	18	2564	c.2475G>A	c.(2473-2475)gaG>gaA	p.E825E	MPRIP_ENST00000395804.3_Silent_p.E825E|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000444976.1_Silent_p.E787E|MPRIP_ENST00000341712.4_Silent_p.E825E	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	825	Interaction with PPP1R12A.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TCCTCTCGGAGCAGTACTCGC	0.657000													8	21					0	0	0.003080	0	0
LCP1	3936	broad.mit.edu	37	13	46721147	46721147	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr13:46721147C>T	ENST00000398576.2	-	13	1458	c.1070G>A	c.(1069-1071)cGa>cAa	p.R357Q	LCP1_ENST00000323076.2_Missense_Mutation_p.R357Q			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	357	Actin-binding 1.|CH 2.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GGGGTTCCCTCGGACAACATC	0.547000			T	BCL6	NHL								10	86					0	0	0.006214	0	0
CCNA2	890	broad.mit.edu	37	4	122744744	122744744	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:122744744C>T	ENST00000274026.5	-	1	343	c.40G>A	c.(40-42)Gcg>Acg	p.A14T		NM_001237.3	NP_001228.1	P20248	CCNA2_HUMAN	cyclin A2	14					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						GCCGAGCCCGCCTCGCGGGTC	0.687000													3	4					0	0	0.009096	0	0
MYH4	4622	broad.mit.edu	37	17	10358338	10358338	+	Silent	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:10358338T>C	ENST00000255381.2	-	21	2465	c.2355A>G	c.(2353-2355)ctA>ctG	p.L785L	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	785	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGAGTTGAGCTAGCTTTTCAT	0.448000													14	39					0	0	0.003163	0	0
RP11-535M15.2	0	broad.mit.edu	37	9	99489210	99489210	+	RNA	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr9:99489210G>T	ENST00000602289.1	+	0	199																											TGAAGGACGTGGGAGCTGCCC	0.458000													44	13					3.33635e-10	3.89532e-10	0.011902	1	0
NRXN3	9369	broad.mit.edu	37	14	79181346	79181346	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:79181346G>T	ENST00000554719.1	+	5	1280	c.789G>T	c.(787-789)aaG>aaT	p.K263N	NRXN3_ENST00000335750.5_Missense_Mutation_p.K263N	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					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)		CGGGTGTCAAGTCCTCCTGTT	0.547000													29	21					1.06801e-11	1.27362e-11	0.009535	1	0
SEL1L2	80343	broad.mit.edu	37	20	13847353	13847353	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:13847353C>A	ENST00000284951.5	-	15	1473	c.1399G>T	c.(1399-1401)Gtg>Ttg	p.V467L	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.V467L			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	467						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TTTACCTCCACAGCAGTTCTG	0.398000													32	51					6.00712e-18	7.81101e-18	0.012213	1	0
BICC1	80114	broad.mit.edu	37	10	60560767	60560767	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:60560767C>A	ENST00000373886.3	+	14	1980	c.1976C>A	c.(1975-1977)aCa>aAa	p.T659K	BICC1_ENST00000263103.1_Missense_Mutation_p.T285K	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	659					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AAAAGGCAGACAGTGGAACTA	0.403000													25	46					4.16121e-05	4.42936e-05	0.016522	1	0
DDX23	9416	broad.mit.edu	37	12	49229995	49229995	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:49229995T>C	ENST00000308025.3	-	11	1370	c.1291A>G	c.(1291-1293)Atc>Gtc	p.I431V		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	431	Helicase ATP-binding.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						ACACCAATGATGTCACGATTC	0.507000													47	126					0	0	0.014410	0	0
LRRCC1	85444	broad.mit.edu	37	8	86047139	86047139	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:86047139A>T	ENST00000414626.2	+	12	2855	c.1966A>T	c.(1966-1968)Att>Ttt	p.I656F	LRRCC1_ENST00000360375.3_Missense_Mutation_p.I676F			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	676					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ACATGCTCTTATTTGGGCTCA	0.313000													17	53					0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179612195	179612195	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:179612195T>C	ENST00000360870.5	-	46	15154	c.14932A>G	c.(14932-14934)Agt>Ggt	p.S4978G	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1087	Ig-like 30.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTCTTCACTGGTTGTACTT	0.383000													34	92					0	0	0.013726	0	0
PNISR	25957	broad.mit.edu	37	6	99850546	99850546	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:99850546C>T	ENST00000369239.5	-	11	1401	c.1197G>A	c.(1195-1197)gaG>gaA	p.E399E	PNISR_ENST00000438806.1_Silent_p.E399E	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	399						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TGTCACTCCTCTCATCTTCAC	0.398000													59	130					0	0	0.014410	0	0
DPYSL4	10570	broad.mit.edu	37	10	134008362	134008362	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:134008362C>T	ENST00000338492.4	+	4	491	c.327C>T	c.(325-327)ttC>ttT	p.F109F	DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368627.1_Silent_p.F32F|DPYSL4_ENST00000368629.1_Silent_p.F32F	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	109					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		ACCACGTCTTCCCCGACACGG	0.647000													18	49					0	0	0.010504	0	0
RFWD2	64326	broad.mit.edu	37	1	176012927	176012927	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:176012927C>G	ENST00000367669.3	-	13	1963	c.1449G>C	c.(1447-1449)aaG>aaC	p.K483N	RFWD2_ENST00000308769.8_Missense_Mutation_p.K459N	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	483					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CTAACAGGTTCTTATGGTAAC	0.323000													55	276					0	0	0.014410	0	0
OR4D11	219986	broad.mit.edu	37	11	59271125	59271125	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:59271125T>A	ENST00000313253.1	+	1	77	c.77T>A	c.(76-78)gTc>gAc	p.V26D		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CAGAGTTTGGTCTTGTTTCTT	0.433000													25	72					0	0	0.016522	0	0
RGS6	9628	broad.mit.edu	37	14	72431525	72431525	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:72431525G>A	ENST00000553530.1	+	2	224	c.17G>A	c.(16-18)gGg>gAg	p.G6E	RGS6_ENST00000407322.4_Missense_Mutation_p.G6E|RGS6_ENST00000404301.2_Missense_Mutation_p.G6E|RGS6_ENST00000406236.4_Missense_Mutation_p.G6E|RGS6_ENST00000555571.1_Missense_Mutation_p.G6E|RGS6_ENST00000355512.6_Missense_Mutation_p.G6E|RGS6_ENST00000553525.1_Missense_Mutation_p.G6E|RGS6_ENST00000402788.2_Missense_Mutation_p.G6E|RGS6_ENST00000556437.1_Missense_Mutation_p.G6E|RGS6_ENST00000343854.6_Missense_Mutation_p.G6E	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	6					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CAAGGATCCGGGGATCAAAGA	0.463000													27	77					0	0	0.008361	0	0
OR2A12	346525	broad.mit.edu	37	7	143792691	143792691	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:143792691G>T	ENST00000408949.2	+	1	551	c.491G>T	c.(490-492)aGg>aTg	p.R164M		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					CTTATTCTGAGGCTGCCTTTT	0.458000													55	74					1.46357e-32	2.07883e-32	0.014410	1	0
PCDHGB3	56102	broad.mit.edu	37	5	140751806	140751806	+	Silent	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:140751806G>T	ENST00000576222.1	+	1	1976	c.1845G>T	c.(1843-1845)ggG>ggT	p.G615G	PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGCCCGGGCTGTTCAGCC	0.687000													22	48					5.26018e-13	6.39248e-13	0.012319	1	0
TNIK	23043	broad.mit.edu	37	3	170819288	170819288	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:170819288C>T	ENST00000436636.2	-	22	2885	c.2541G>A	c.(2539-2541)gaG>gaA	p.E847E	TNIK_ENST00000488470.1_Silent_p.E792E|TNIK_ENST00000341852.6_Silent_p.E763E|TNIK_ENST00000475336.1_Silent_p.E755E|TNIK_ENST00000470834.1_Silent_p.E810E|TNIK_ENST00000538048.1_Silent_p.E799E|TNIK_ENST00000460047.1_Silent_p.E784E|TNIK_ENST00000369326.5_Silent_p.E825E|TNIK_ENST00000357327.5_Silent_p.E818E|TNIK_ENST00000284483.8_Silent_p.E839E	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	847	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GGGTCTCGCTCTCTCCATCTT	0.498000													145	544					0	0	0.014410	0	0
TOR1B	27348	broad.mit.edu	37	9	132565578	132565578	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr9:132565578C>T	ENST00000259339.2	+	1	147	c.87C>T	c.(85-87)acC>acT	p.T29T	TOR1B_ENST00000486372.1_3'UTR	NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	29					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				AGCCCATCACCGTGGGCCTAG	0.726000													11	1					0	0	0.008291	0	0
POU4F2	5458	broad.mit.edu	37	4	147561662	147561662	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:147561662A>G	ENST00000281321.3	+	2	1180	c.932A>G	c.(931-933)aAt>aGt	p.N311S		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	311	POU-specific.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					TCCCACAATAATATGATCGCG	0.607000													6	21					0	0	0.001984	0	0
IMPA2	3613	broad.mit.edu	37	18	11999122	11999122	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr18:11999122G>A	ENST00000269159.3	+	2	408	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	IMPA2_ENST00000589238.1_5'UTR|IMPA2_ENST00000588927.1_5'UTR|IMPA2_ENST00000588752.1_3'UTR	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	56					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	TCTTGTGACAGAAACAGATCA	0.423000													18	50					0	0	0.006122	0	0
CXorf22	170063	broad.mit.edu	37	X	35969932	35969932	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chrX:35969932C>T	ENST00000297866.5	+	6	964	c.898C>T	c.(898-900)Caa>Taa	p.Q300*		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	300										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TACAGATATTCAACAAAGAAC	0.279000													5	8					0	0	0.014758	0	0
SNHG14	104472715	broad.mit.edu	37	15	25438547	25438547	+	RNA	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:25438547C>A	ENST00000424208.1	+	0	1406				SNHG14_ENST00000414175.1_RNA|SNHG14_ENST00000363358.1_RNA|SNHG14_ENST00000456576.1_RNA	NR_003305.1																						TACGCTGAGGCCCAGTCTAGG	0.502000													147	132					8.76995e-74	1.26583e-73	0.014410	1	0
COL11A2	1302	broad.mit.edu	37	6	33145004	33145004	+	Splice_Site	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:33145004T>A	ENST00000341947.2	-	24	2199		c.e24-2		COL11A2_ENST00000374708.4_Splice_Site|COL11A2_ENST00000361917.1_Splice_Site|COL11A2_ENST00000357486.1_Splice_Site|COL11A2_ENST00000374714.1_Splice_Site|COL11A2_ENST00000395197.1_Splice_Site|COL11A2_ENST00000374713.1_Splice_Site|COL11A2_ENST00000374712.1_Splice_Site|COL11A2_ENST00000477772.1_Splice_Site	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2						cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGAAGACCCTACATACAGGG	0.547000													26	38					0	0	0.004656	0	0
ARID1B	57492	broad.mit.edu	37	6	157488191	157488191	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:157488191G>A	ENST00000346085.5	+	10	2898	c.2897G>A	c.(2896-2898)gGc>gAc	p.G966D	ARID1B_ENST00000367148.1_Missense_Mutation_p.G953D|ARID1B_ENST00000350026.5_Missense_Mutation_p.G953D|ARID1B_ENST00000275248.4_Missense_Mutation_p.G895D|ARID1B_ENST00000478761.1_3'UTR	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	953					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGTTTCCCCGGCATGAACCAG	0.537000													4	239					0	0	0.014758	0	0
TRPC4	7223	broad.mit.edu	37	13	38357101	38357101	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr13:38357101C>A	ENST00000379705.3	-	2	1227	c.370G>T	c.(370-372)Gaa>Taa	p.E124*	TRPC4_ENST00000338947.5_Nonsense_Mutation_p.E124*|TRPC4_ENST00000379679.1_Nonsense_Mutation_p.E124*|TRPC4_ENST00000447043.1_Nonsense_Mutation_p.E124*|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.E124*|TRPC4_ENST00000358477.2_Nonsense_Mutation_p.E124*|TRPC4_ENST00000379673.2_Nonsense_Mutation_p.E124*|TRPC4_ENST00000379681.3_Nonsense_Mutation_p.E124*|TRPC4_ENST00000426868.2_Nonsense_Mutation_p.E124*			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	124	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ACCTGTTTTTCTCCACTAGGT	0.308000													42	30					7.05121e-23	9.58793e-23	0.010771	1	0
OR5D14	219436	broad.mit.edu	37	11	55563127	55563127	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:55563127G>A	ENST00000335605.1	+	1	96	c.96G>A	c.(94-96)gtG>gtA	p.V32V		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TCTTCCTTGTGTTTCTGCTCA	0.388000													15	76					0	0	0.004007	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													4	7					0	0	0.014758	0	0
GOLGA2P9	440518	broad.mit.edu	37	19	22784168	22784168	+	RNA	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:22784168C>A	ENST00000600260.1	+	0	602					NR_033899.1																						TTAGGAGCACCTGGAAGCTGC	0.637000													3	4					6.4e-05	6.78154e-05	0.004672	1	0
NPAP1	23742	broad.mit.edu	37	15	24921822	24921822	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:24921822T>C	ENST00000329468.2	+	1	1282	c.808T>C	c.(808-810)Tcc>Ccc	p.S270P		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CGTTGGCTGCTCCCTGCTGCA	0.637000													22	17					0	0	0.014323	0	0
TBC1D16	125058	broad.mit.edu	37	17	77921571	77921571	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:77921571G>A	ENST00000310924.2	-	9	1716	c.1601C>T	c.(1600-1602)tCg>tTg	p.S534L	TBC1D16_ENST00000570373.1_Missense_Mutation_p.S173L|TBC1D16_ENST00000572862.1_Missense_Mutation_p.S172L|TBC1D16_ENST00000576768.1_Missense_Mutation_p.S159L|TBC1D16_ENST00000340848.7_Missense_Mutation_p.S172L	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	534	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CACCAGGTCCGACATCCCTTG	0.602000													44	10					0	0	0.008740	0	0
HSPA8	3312	broad.mit.edu	37	11	122930365	122930365	+	Silent	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:122930365G>C	ENST00000534624.1	-	5	1212	c.936C>G	c.(934-936)ggC>ggG	p.G312G	HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000534319.1_Silent_p.G76G|HSPA8_ENST00000532636.1_Silent_p.G312G|HSPA8_ENST00000533540.1_Silent_p.G166G|HSPA8_ENST00000227378.3_Silent_p.G312G|HSPA8_ENST00000453788.2_Silent_p.G312G|HSPA8_ENST00000526110.1_Silent_p.G293G	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	312	Interaction with BAG1.				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GGTCCAGGGTGCCACGGAACA	0.478000													23	39					0	0	0.014323	0	0
ZNF608	57507	broad.mit.edu	37	5	123982855	123982855	+	Silent	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:123982855C>A	ENST00000306315.5	-	4	3657	c.3222G>T	c.(3220-3222)ctG>ctT	p.L1074L	ZNF608_ENST00000504926.1_Silent_p.L647L	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1074						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GTGACTGAGCCAGGGCAGGAT	0.483000													10	32					5.16669e-11	6.11231e-11	0.010729	1	0
AGRN	375790	broad.mit.edu	37	1	957724	957724	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:957724delC	ENST00000379370.2	+	2	395	c.345delC	c.(343-345)ttfs	p.F116fs		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	116	NtA.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCAGGATCTTCTTTGTGAACC	0.607													107	52	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187542674	187542675	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:187542674_187542675insCC	ENST00000441802.2	-	10	5274_5275	c.5065_5066insGG	c.(5065-5067)tacfs	p.Y1689fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1689	Cadherin 15.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGGGCTGTAACCATCCCAACG	0.386										HNSCC(5;0.00058)			28	55	---	---	---	---					
SLC27A6	28965	broad.mit.edu	37	5	128351610	128351610	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:128351610delG	ENST00000262462.4	+	5	2012	c.1002delG	c.(1000-1002)ttfs	p.L334fs	SLC27A6_ENST00000506176.1_Frame_Shift_Del_p.L334fs|SLC27A6_ENST00000395266.1_Frame_Shift_Del_p.L334fs			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	334					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGGTGCGTTTGGCAATTGGAA	0.328													19	29	---	---	---	---					
ADAMTS19	171019	broad.mit.edu	37	5	129001220	129001221	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:129001220_129001221insA	ENST00000274487.4	+	16	2581_2582	c.2436_2437insA	c.(2434-2439)gcgagcfs	p.S813fs	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	813	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGATACCTGCTGGAGCAAGAAG	0.406													7	6	---	---	---	---					
RBM27	54439	broad.mit.edu	37	5	145648991	145648992	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:145648991_145648992insT	ENST00000265271.5	+	17	2701_2702	c.2535_2536insT	c.(2533-2538)atccaafs	p.Q846fs	RBM27_ENST00000506502.1_Frame_Shift_Ins_p.Q791fs	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	846					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGATGTTAATATCCAAGTTAGA	0.243													8	20	---	---	---	---					
MDFIC	29969	broad.mit.edu	37	7	114563068	114563068	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:114563068delG	ENST00000257724.3	+	2	570	c.307delG	c.(307-309)cgfs	p.A103fs	MDFIC_ENST00000423503.1_5'UTR|MDFIC_ENST00000448022.1_5'UTR|MDFIC_ENST00000393486.1_5'UTR			Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing	0					activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						GCGGCGCGGCGCGGGCTCGGC	0.771													5	4	---	---	---	---					
CHD7	55636	broad.mit.edu	37	8	61693942	61693943	+	In_Frame_Ins	INS	-	-	AAAGCA			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:61693942_61693943insAAAGCA	ENST00000423902.2	+	3	2528_2529	c.2049_2050insAAAGCA	c.(2047-2052)aaaagc>aaAAAGCAaagc	p.683_684KS>KKQS	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_In_Frame_Ins_p.683_684KS>KKQS	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	683	Lys-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAAAGGAAAAGAAAGCAAAAAC	0.450													6	2	---	---	---	---					
RP11-586K2.1	0	broad.mit.edu	37	8	89498121	89498122	+	RNA	INS	-	-	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:89498121_89498122insA	ENST00000521433.1	+	0	179				RP11-586K2.1_ENST00000523254.1_RNA																							gaacagctatgaaaaaaaaaac	0.386													3	6	---	---	---	---					
C10orf12	26148	broad.mit.edu	37	10	98741349	98741372	+	In_Frame_Del	DEL	CGCCAGGATTTAGAGGCAAATGAA	CGCCAGGATTTAGAGGCAAATGAA	-	rs141108014		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:98741349_98741372delCGCCAGGATTTAGAGGCAAATGAA	ENST00000286067.2	+	1	309_332	c.202_225delCGCCAGGATTTAGAGGCAAATGAA	c.(202-225)del	p.RQDLEANE68del		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	68								p.R68L(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AACACCTTTGCGCCAGGATTTAGAGGCAAATGAACAAGATGCAA	0.429													10	72	---	---	---	---					
VAMP1	6843	broad.mit.edu	37	12	6573649	6573649	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:6573649delT	ENST00000396308.3	-	5	489	c.344delA	c.(343-345)tcfs	p.Y115fs	VAMP1_ENST00000535180.1_Intron|VAMP1_ENST00000361716.3_3'UTR|TAPBPL_ENST00000545700.1_Intron|VAMP1_ENST00000400911.3_Intron|VAMP1_ENST00000544432.1_Intron	NM_014231.3|NM_199245.1	NP_055046.1|NP_954740.1	P23763	VAMP1_HUMAN	vesicle-associated membrane protein 1 (synaptobrevin 1)	115					neurotransmitter secretion|vesicle-mediated transport	cell junction|endocytic vesicle membrane|integral to plasma membrane|mitochondrial outer membrane|synaptic vesicle membrane|synaptosome	protein binding			endometrium(1)|large_intestine(1)|prostate(1)	3					Botulinum Toxin Type B(DB00042)	AGTAAAAAAGTAGACTGGACA	0.473													2	4	---	---	---	---					
ACSM4	341392	broad.mit.edu	37	12	7457112	7457112	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:7457112delG	ENST00000399422.4	+	1	233	c.185delG	c.(184-186)tgfs	p.W62fs		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	62					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						CTGGACCAGTGGTCCCAAAAG	0.468													31	71	---	---	---	---					
CD163L1	283316	broad.mit.edu	37	12	7559427	7559446	+	Frame_Shift_Del	DEL	CTTAGTTCAAGATCACTACT	CTTAGTTCAAGATCACTACT	-			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:7559427_7559446delCTTAGTTCAAGATCACTACT	ENST00000313599.3	-	5	826_845	c.769_788delAGTAGTGATCTTGAACTAAG	c.(769-789)gfs	p.SSDLELR257fs	CD163L1_ENST00000396630.1_Frame_Shift_Del_p.SSDLELR257fs|CD163L1_ENST00000416109.2_Frame_Shift_Del_p.SSDLELR267fs			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	257						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ACCTACAAGCCTTAGTTCAAGATCACTACTATCTGAAACA	0.414													18	89	---	---	---	---					
RNASE3	6037	broad.mit.edu	37	14	21360216	21360216	+	Frame_Shift_Del	DEL	C	C	-	rs2073342	byFrequency	TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:21360216delC	ENST00000304639.3	+	2	429	c.371delC	c.(370-372)agfs	p.T124fs		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	124			T -> R (in dbSNP:rs2073342).		defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	TCAAACTGCACGTATGCAGAC	0.468													55	45	---	---	---	---					
MYH7	4625	broad.mit.edu	37	14	23887419	23887419	+	Splice_Site	DEL	T	T	-			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:23887419delT	ENST00000355349.3	-	30	4331	c.4169_splice	c.e30+1	p.K1392_splice		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1392					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CAGAACTCACTTGGCCTCCTC	0.617													49	28	---	---	---	---					
NOS2P1	645740	broad.mit.edu	37	17	25988693	25988702	+	RNA	DEL	CACAGGTGGC	CACAGGTGGC	-	rs3217511		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:25988693_25988702delCACAGGTGGC	ENST00000583179.1	-	0	1982_1991																											GATGTAAAAGCACAGGTGGCCACAGGTTAC	0.500													8	4	---	---	---	---					
ZNF750	79755	broad.mit.edu	37	17	80789871	80789872	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:80789871_80789872insT	ENST00000269394.3	-	2	1292_1293	c.459_460insA	c.(457-462)ctaaggfs	p.R154fs	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	154						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCTGCGCCTTCCAGAGCAGGCT	0.658													36	15	---	---	---	---					
PSG9	5678	broad.mit.edu	37	19	43772264	43772264	+	Frame_Shift_Del	DEL	G	G	-	rs143419745	byFrequency	TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:43772264delG	ENST00000244293.7	-	2	168	c.102delC	c.(100-102)gcfs	p.A34fs	PSG9_ENST00000593948.1_Frame_Shift_Del_p.A34fs|PSG9_ENST00000443718.3_Frame_Shift_Del_p.A34fs|PSG9_ENST00000291752.5_Frame_Shift_Del_p.A34fs|PSG9_ENST00000418820.2_Frame_Shift_Del_p.A34fs|PSG9_ENST00000270077.3_Frame_Shift_Del_p.A34fs|PSG9_ENST00000596730.1_Frame_Shift_Del_p.A34fs			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	34					female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TCGTGACTTCGGCAGTGGTGG	0.488													92	166	---	---	---	---					
DACH2	117154	broad.mit.edu	37	X	85969660	85969661	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chrX:85969660_85969661insA	ENST00000373131.1	+	5	1165_1166	c.1002_1003insA	c.(1000-1005)gcacatfs	p.H335fs	DACH2_ENST00000373125.4_Frame_Shift_Ins_p.H348fs|DACH2_ENST00000508860.1_Frame_Shift_Ins_p.H181fs|DACH2_ENST00000510272.1_Frame_Shift_Ins_p.H129fs	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						ATACTATTGCCAACATGGCTGC	0.446													21	33	---	---	---	---